| geneid | 25836 |
|---|---|
| ensemblid | ENSG00000164190.19 |
| hgncid | 28862 |
| symbol | NIPBL |
| name | NIPBL cohesin loading factor |
| refseq_nuc | NM_133433.4 |
| refseq_prot | NP_597677.2 |
| ensembl_nuc | ENST00000282516.13 |
| ensembl_prot | ENSP00000282516.8 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 36876769 |
| end | 37066413 |
| strand | + |
| ver | v1.2 |
| region | chr5:36876769-37066413 |
| region5000 | chr5:36871769-37071413 |
| regionname0 | NIPBL_chr5_36876769_37066413 |
| regionname5000 | NIPBL_chr5_36871769_37071413 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2804 | 274 | 72 | 46 | 123 | 11 | 20 | 93 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002 | 0/0 | 2804 | 41 | 9 | 9 | 16 | 1 | 6 | 11 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0003 | 0/0 | 2804 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0004 | 0/0 | 2804 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0005 | 0/0 | 2804 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0006 | 0/0 | 2804 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0007 | 0/0 | 2804 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0008 | 0/0 | 2804 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0009 | 0/0 | 2804 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0010 | 0/0 | 2804 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0011 | 0/0 | 2804 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 8415 | 184 | 48 | 34 | 77 | 9 | 14 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0002 | 0/0 | 8415 | 66 | 5 | 9 | 44 | 2 | 6 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0003 | 0/0 | 8415 | 40 | 8 | 9 | 16 | 1 | 6 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0004 | 0/0 | 8415 | 15 | 14 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0005 | 0/0 | 8415 | 4 | 4 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0006 | 0/0 | 8415 | 4 | 4 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0007 | 0/0 | 8415 | 2 | 0 | 0 | 2 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0008 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0009 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0010 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0011 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0012 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0013 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0014 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0015 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0016 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0017 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0018 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0019 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| c0020 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 2011 | 306 | 71 | 54 | 143 | 12 | 24 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0002 | 0/0 | 2010 | 16 | 15 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0003 | 0/0 | 2011 | 2 | 0 | 0 | 0 | 0 | 2 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0004 | 0/0 | 2011 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0005 | 0/0 | 2010 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0006 | 0/0 | 2011 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| t0007 | 0/0 | 2011 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0102 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0104 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0274 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0289 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0291 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0292 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0299 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0303 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0304 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0308 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0309 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0322 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| g0326 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 8415 | 184 | 48 | 34 | 77 | 9 | 14 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0002 | 0/0 | 8415 | 66 | 5 | 9 | 44 | 2 | 6 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0004 | 0/0 | 8415 | 15 | 14 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0006 | 0/0 | 8415 | 4 | 4 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0008 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0011 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0016 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0019 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0020 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002c0003 | 0/0 | 8415 | 40 | 8 | 9 | 16 | 1 | 6 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002c0015 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0003c0005 | 0/0 | 8415 | 4 | 4 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0004c0007 | 0/0 | 8415 | 2 | 0 | 0 | 2 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0005c0009 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0006c0018 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0007c0017 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0008c0014 | 0/0 | 8415 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0009c0012 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0010c0013 | 0/0 | 8415 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0011c0010 | 0/0 | 8415 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 10425 | 183 | 48 | 33 | 77 | 9 | 14 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0001t0004 | 0/0 | 10425 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0002t0001 | 0/0 | 10425 | 65 | 5 | 9 | 43 | 2 | 6 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0002t0007 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0004t0001 | 0/0 | 10425 | 2 | 2 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0004t0002 | 0/0 | 10424 | 12 | 11 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0004t0005 | 0/0 | 10424 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0006t0001 | 0/0 | 10425 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0006t0002 | 0/0 | 10424 | 3 | 3 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0008t0001 | 0/0 | 10425 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0011t0001 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0016t0001 | 0/0 | 10425 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0019t0001 | 0/0 | 10425 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0001c0020t0001 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002c0003t0001 | 0/0 | 10425 | 38 | 8 | 9 | 16 | 1 | 4 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002c0003t0003 | 0/0 | 10425 | 2 | 0 | 0 | 0 | 0 | 2 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0002c0015t0001 | 0/0 | 10425 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0003c0005t0001 | 0/0 | 10425 | 4 | 4 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0004c0007t0001 | 0/0 | 10425 | 2 | 0 | 0 | 2 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0005c0009t0006 | 0/0 | 10425 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0006c0018t0001 | 0/0 | 10425 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0007c0017t0001 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0008c0014t0002 | 0/0 | 10424 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0009c0012t0001 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0010c0013t0001 | 0/0 | 10425 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| a0011c0010t0001 | 0/0 | 10425 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | copy fasta | chr5 | 36871769 | 37071413 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0102 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0104 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0001g0326 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0001t0004g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0274 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0289 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0292 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0299 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0303 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0304 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0308 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0309 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0001g0322 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0002t0007g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0004t0005g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0006t0001g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0006t0002g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0006t0002g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0006t0002g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0008t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0011t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0016t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0019t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0001c0020t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0291 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0001g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0003g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0003t0003g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0002c0015t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0003c0005t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0003c0005t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0003c0005t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0003c0005t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0004c0007t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0004c0007t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0005c0009t0006g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0006c0018t0001g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0007c0017t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0008c0014t0002g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0009c0012t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0010c0013t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| a0011c0010t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0001 | g0299 | EUR | GBR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0053 | EUR | GBR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0064 | EUR | GBR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00140 | hp2 | a0001 | c0002 | t0001 | g0274 | EUR | GBR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0111 | EUR | FIN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0031 | EUR | FIN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00408 | hp1 | a0001 | c0002 | t0001 | g0115 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00423 | hp1 | a0001 | c0002 | t0001 | g0247 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00621 | hp1 | a0001 | c0002 | t0001 | g0280 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00642 | hp1 | a0002 | c0003 | t0001 | g0163 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00673 | hp2 | a0002 | c0003 | t0001 | g0130 | EAS | CHS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00733 | hp1 | a0001 | c0002 | t0001 | g0282 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0214 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00735 | hp2 | a0001 | c0002 | t0001 | g0246 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0209 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0101 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0207 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01074 | hp1 | a0001 | c0002 | t0001 | g0255 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01099 | hp2 | a0002 | c0003 | t0001 | g0323 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01109 | hp1 | a0002 | c0003 | t0001 | g0118 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01109 | hp2 | a0001 | c0004 | t0002 | g0194 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01167 | hp2 | a0001 | c0001 | t0004 | g0098 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01175 | hp1 | a0010 | c0013 | t0001 | g0094 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01175 | hp2 | a0001 | c0008 | t0001 | g0252 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0326 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0167 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01243 | hp2 | a0001 | c0019 | t0001 | g0176 | AMR | PUR | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0304 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0303 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01257 | hp2 | a0002 | c0003 | t0001 | g0160 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01258 | hp2 | a0001 | c0002 | t0001 | g0302 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0142 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0191 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0229 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01361 | hp2 | a0001 | c0002 | t0001 | g0285 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0216 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0017 | EUR | IBS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0212 | EUR | IBS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0241 | EUR | IBS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01517 | hp2 | a0002 | c0003 | t0001 | g0244 | EUR | IBS | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01884 | hp1 | a0002 | c0003 | t0001 | g0310 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01884 | hp2 | a0001 | c0002 | t0001 | g0248 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01891 | hp1 | a0002 | c0003 | t0001 | g0137 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01891 | hp2 | a0003 | c0005 | t0001 | g0108 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01952 | hp1 | a0002 | c0003 | t0001 | g0120 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0014 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01975 | hp1 | a0001 | c0002 | t0001 | g0114 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0215 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0218 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01993 | hp2 | a0002 | c0003 | t0001 | g0164 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0322 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02004 | hp2 | a0002 | c0003 | t0001 | g0159 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02027 | hp2 | a0001 | c0002 | t0001 | g0259 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02071 | hp1 | a0001 | c0002 | t0001 | g0301 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02074 | hp1 | a0001 | c0002 | t0001 | g0268 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02074 | hp2 | a0007 | c0017 | t0001 | g0040 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02080 | hp2 | a0001 | c0002 | t0001 | g0288 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0286 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02129 | hp1 | a0002 | c0003 | t0001 | g0133 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0261 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02132 | hp1 | a0002 | c0003 | t0001 | g0132 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02132 | hp2 | a0001 | c0002 | t0001 | g0256 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0249 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02145 | hp2 | a0001 | c0004 | t0002 | g0196 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | CDX | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | CDX | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | CDX | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02165 | hp2 | a0002 | c0003 | t0001 | g0134 | EAS | CDX | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02257 | hp1 | a0003 | c0005 | t0001 | g0109 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0181 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0324 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0169 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02293 | hp1 | a0002 | c0003 | t0001 | g0119 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02300 | hp1 | a0002 | c0003 | t0001 | g0162 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0096 | AMR | PEL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02451 | hp1 | a0001 | c0006 | t0002 | g0321 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02523 | hp1 | a0001 | c0002 | t0001 | g0283 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02523 | hp2 | a0002 | c0003 | t0001 | g0129 | EAS | KHV | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02572 | hp1 | a0002 | c0003 | t0001 | g0313 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02572 | hp2 | a0008 | c0014 | t0002 | g0319 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0213 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0093 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02615 | hp1 | a0001 | c0006 | t0002 | g0316 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0141 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02630 | hp1 | a0001 | c0004 | t0005 | g0197 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0237 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0175 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0047 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02683 | hp2 | a0002 | c0003 | t0001 | g0139 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02698 | hp2 | a0002 | c0003 | t0001 | g0161 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02717 | hp2 | a0001 | c0004 | t0002 | g0202 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02723 | hp2 | a0002 | c0003 | t0001 | g0311 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02818 | hp1 | a0001 | c0004 | t0002 | g0199 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0179 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0171 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02895 | hp1 | a0001 | c0004 | t0002 | g0205 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02895 | hp2 | a0001 | c0006 | t0001 | g0320 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02896 | hp1 | a0001 | c0004 | t0002 | g0195 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0187 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0189 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02897 | hp2 | a0001 | c0004 | t0002 | g0201 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0156 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0192 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0180 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02965 | hp2 | a0001 | c0004 | t0002 | g0193 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02970 | hp2 | a0001 | c0006 | t0002 | g0318 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03017 | hp2 | a0001 | c0002 | t0001 | g0289 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0185 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0172 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0325 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0186 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03139 | hp1 | a0002 | c0003 | t0001 | g0312 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03139 | hp2 | a0002 | c0015 | t0001 | g0110 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03209 | hp1 | a0001 | c0002 | t0001 | g0239 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03209 | hp2 | a0006 | c0018 | t0001 | g0317 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0158 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03453 | hp2 | a0001 | c0002 | t0001 | g0276 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0168 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03486 | hp2 | a0001 | c0004 | t0002 | g0203 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03490 | hp1 | a0001 | c0002 | t0001 | g0308 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0233 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0309 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0051 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03516 | hp2 | a0001 | c0004 | t0002 | g0204 | AFR | ESN | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03540 | hp1 | a0001 | c0004 | t0002 | g0200 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | GWD | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03579 | hp2 | a0002 | c0003 | t0001 | g0136 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03669 | hp1 | a0001 | c0002 | t0001 | g0292 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03704 | hp1 | a0002 | c0003 | t0001 | g0291 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0032 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03710 | hp1 | a0002 | c0003 | t0003 | g0240 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0013 | SAS | PJL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03831 | hp1 | a0001 | c0002 | t0001 | g0269 | SAS | BEB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03831 | hp2 | a0002 | c0003 | t0001 | g0116 | SAS | BEB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03942 | hp1 | a0002 | c0003 | t0003 | g0165 | SAS | BEB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | BEB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | STU | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0232 | SAS | STU | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0054 | SAS | STU | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG04228 | hp2 | a0001 | c0002 | t0001 | g0290 | SAS | STU | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | CHB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18612 | hp2 | a0001 | c0002 | t0001 | g0278 | EAS | CHB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0315 | AFR | YRI | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18906 | hp2 | a0005 | c0009 | t0006 | g0107 | AFR | YRI | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18939 | hp2 | a0001 | c0002 | t0001 | g0293 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18946 | hp1 | a0001 | c0002 | t0001 | g0257 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18947 | hp2 | a0001 | c0002 | t0001 | g0245 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18951 | hp1 | a0002 | c0003 | t0001 | g0124 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18952 | hp1 | a0002 | c0003 | t0001 | g0128 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18953 | hp1 | a0001 | c0002 | t0001 | g0260 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18954 | hp1 | a0001 | c0002 | t0001 | g0294 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18956 | hp2 | a0002 | c0003 | t0001 | g0122 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18960 | hp1 | a0001 | c0002 | t0001 | g0264 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18961 | hp1 | a0001 | c0002 | t0001 | g0307 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18968 | hp2 | a0002 | c0003 | t0001 | g0127 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18969 | hp1 | a0001 | c0002 | t0001 | g0287 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18975 | hp2 | a0001 | c0002 | t0001 | g0068 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18977 | hp2 | a0002 | c0003 | t0001 | g0125 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18979 | hp2 | a0002 | c0003 | t0001 | g0166 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18983 | hp2 | a0001 | c0002 | t0001 | g0250 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18986 | hp2 | a0001 | c0002 | t0001 | g0284 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18987 | hp1 | a0001 | c0002 | t0001 | g0295 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18987 | hp2 | a0002 | c0003 | t0001 | g0135 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18990 | hp2 | a0001 | c0002 | t0001 | g0270 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18991 | hp2 | a0001 | c0020 | t0001 | g0267 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18992 | hp1 | a0004 | c0007 | t0001 | g0037 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18992 | hp2 | a0001 | c0002 | t0001 | g0263 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18994 | hp1 | a0001 | c0002 | t0001 | g0258 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18998 | hp1 | a0001 | c0002 | t0007 | g0254 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19001 | hp1 | a0002 | c0003 | t0001 | g0131 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19004 | hp1 | a0001 | c0002 | t0001 | g0265 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19010 | hp2 | a0001 | c0002 | t0001 | g0262 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19011 | hp2 | a0001 | c0002 | t0001 | g0279 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19012 | hp2 | a0001 | c0002 | t0001 | g0271 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | LWK | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19043 | hp2 | a0001 | c0004 | t0001 | g0174 | AFR | LWK | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19054 | hp2 | a0001 | c0002 | t0001 | g0251 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19055 | hp1 | a0001 | c0002 | t0001 | g0296 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19055 | hp2 | a0002 | c0003 | t0001 | g0117 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19056 | hp2 | a0001 | c0002 | t0001 | g0297 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19065 | hp2 | a0002 | c0003 | t0001 | g0123 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0253 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19070 | hp1 | a0009 | c0012 | t0001 | g0272 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19070 | hp2 | a0001 | c0011 | t0001 | g0078 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19074 | hp2 | a0001 | c0002 | t0001 | g0275 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19077 | hp2 | a0001 | c0002 | t0001 | g0266 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19078 | hp1 | a0001 | c0001 | t0001 | g0314 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19078 | hp2 | a0001 | c0002 | t0001 | g0305 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19080 | hp1 | a0004 | c0007 | t0001 | g0033 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19082 | hp1 | a0001 | c0002 | t0001 | g0242 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19087 | hp1 | a0001 | c0002 | t0001 | g0281 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19088 | hp2 | a0001 | c0002 | t0001 | g0306 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19089 | hp1 | a0011 | c0010 | t0001 | g0298 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19090 | hp1 | a0002 | c0003 | t0001 | g0121 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0243 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20129 | hp1 | a0001 | c0016 | t0001 | g0003 | AFR | ASW | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20129 | hp2 | a0002 | c0003 | t0001 | g0126 | AFR | ASW | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0045 | EUR | TSI | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0112 | EUR | TSI | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02486 | hp1 | a0002 | c0003 | t0001 | g0138 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02559 | hp1 | a0003 | c0005 | t0001 | g0105 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0150 | AFR | ACB | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0177 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG03471 | hp2 | a0001 | c0004 | t0001 | g0173 | AFR | MSL | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0183 | AFR | USA | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| HG06807 | hp2 | a0001 | c0002 | t0001 | g0300 | AFR | USA | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA18955 | hp2 | a0001 | c0002 | t0001 | g0277 | EAS | JPT | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20300 | hp1 | a0001 | c0004 | t0002 | g0198 | AFR | USA | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | USA | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA21309 | hp1 | a0003 | c0005 | t0001 | g0106 | AFR | LWK | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0184 | AFR | LWK | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0102 | REF | REF | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0104 | REF | REF | NIPBL_chr5_36871769_37071413 | NIPBL | chr5 | 36871769 | 37071413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:36971954
|
T | G | 2 | a0003a0005 | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
missense_variant | MODERATE | c.781T>G | p.Ser261Ala | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/47 | 1270/10425 | 781/8415 | 261/2804 | chr5 | 36971954 | ||
| chr5:36975848
|
T | C | 1 | a0011 | 1 | NA19089.hp1 | missense_variant | MODERATE | c.941T>C | p.Ile314Thr | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/47 | 1430/10425 | 941/8415 | 314/2804 | chr5 | 36975848 | ||
| chr5:36976058
|
A | G | 1 | a0004 | 2 | NA18992.hp1 NA19080.hp1 |
missense_variant | MODERATE | c.1151A>G | p.Asn384Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/47 | 1640/10425 | 1151/8415 | 384/2804 | chr5 | 36976058 | ||
| chr5:36976228
|
A | G | 1 | a0006 | 1 | HG03209.hp2 | missense_variant | MODERATE | c.1321A>G | p.Thr441Ala | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/47 | 1810/10425 | 1321/8415 | 441/2804 | chr5 | 36976228 | ||
| chr5:36984763
|
C | T | 1 | a0007 | 1 | HG02074.hp2 | missense_variant | MODERATE | c.1583C>T | p.Thr528Met | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 2072/10425 | 1583/8415 | 528/2804 | chr5 | 36984763 | ||
| chr5:36985201
|
A | G | 1 | a0002 | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
missense_variant | MODERATE | c.2021A>G | p.Asn674Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 2510/10425 | 2021/8415 | 674/2804 | chr5 | 36985201 | ||
| chr5:36985494
|
T | G | 1 | a0005 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.2314T>G | p.Ser772Ala | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 2803/10425 | 2314/8415 | 772/2804 | chr5 | 36985494 | ||
| chr5:37024700
|
A | G | 1 | a0010 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.5690A>G | p.Asn1897Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/47 | 6179/10425 | 5690/8415 | 1897/2804 | chr5 | 37024700 | ||
| chr5:37060894
|
C | T | 1 | a0009 | 1 | NA19070.hp1 | missense_variant | MODERATE | c.7736C>T | p.Ala2579Val | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/47 | 8225/10425 | 7736/8415 | 2579/2804 | chr5 | 37060894 | ||
| chr5:37060965
|
A | T | 1 | a0008 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.7807A>T | p.Asn2603Tyr | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/47 | 8296/10425 | 7807/8415 | 2603/2804 | chr5 | 37060965 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:36958206
|
C | T | 1 | a0001c0020 | 1 | NA18991.hp2 | synonymous_variant | LOW | c.333C>T | p.Ser111Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/47 | 822/10425 | 333/8415 | 111/2804 | chr5 | 36958206 | ||
| chr5:36970880
|
G | A | 1 | a0001c0008 | 1 | HG01175.hp2 | synonymous_variant | LOW | c.615G>A | p.Ser205Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 7/47 | 1104/10425 | 615/8415 | 205/2804 | chr5 | 36970880 | ||
| chr5:36975855
|
A | G | 1 | a0001c0019 | 1 | HG01243.hp2 | synonymous_variant | LOW | c.948A>G | p.Leu316Leu | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/47 | 1437/10425 | 948/8415 | 316/2804 | chr5 | 36975855 | ||
| chr5:36984863
|
A | T | 1 | a0001c0016 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.1683A>T | p.Ser561Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 2172/10425 | 1683/8415 | 561/2804 | chr5 | 36984863 | ||
| chr5:36985649
|
A | G | 1 | a0001c0004 | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
synonymous_variant | LOW | c.2469A>G | p.Lys823Lys | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 2958/10425 | 2469/8415 | 823/2804 | chr5 | 36985649 | ||
| chr5:36986195
|
A | G | 1 | a0001c0004 | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
synonymous_variant | LOW | c.3015A>G | p.Leu1005Leu | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/47 | 3504/10425 | 3015/8415 | 1005/2804 | chr5 | 36986195 | ||
| chr5:37000855
|
A | C | 3 | a0001c0006a0006c0018a0008c0014 | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
synonymous_variant | LOW | c.3541A>C | p.Arg1181Arg | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 13/47 | 4030/10425 | 3541/8415 | 1181/2804 | chr5 | 37000855 | ||
| chr5:37006398
|
T | C | 1 | a0002c0015 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.3897T>C | p.Leu1299Leu | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 17/47 | 4386/10425 | 3897/8415 | 1299/2804 | chr5 | 37006398 | ||
| chr5:37036390
|
C | T | 5 | a0001c0002a0001c0008a0001c0020others(2): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
synonymous_variant | LOW | c.5874C>T | p.Ser1958Ser | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/47 | 6363/10425 | 5874/8415 | 1958/2804 | chr5 | 37036390 | ||
| chr5:37048638
|
A | G | 1 | a0001c0011 | 1 | NA19070.hp2 | synonymous_variant | LOW | c.6726A>G | p.Gln2242Gln | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 39/47 | 7215/10425 | 6726/8415 | 2242/2804 | chr5 | 37048638 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:36876951
|
C | T | 1 | a0002c0003t0003 | 2 | HG03710.hp1 HG03942.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-307C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/47 | chr5 | 36876951 | ||||||
| chr5:36877103
|
C | G | 1 | a0001c0002t0007 | 1 | NA18998.hp1 | 5_prime_UTR_variant | MODIFIER | c.-155C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/47 | 76594 | chr5 | 36877103 | |||||
| chr5:37065079
|
A | G | 1 | a0005c0009t0006 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*187A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 47/47 | 187 | chr5 | 37065079 | |||||
| chr5:37065226
|
G | A | 1 | a0001c0001t0004 | 1 | HG01167.hp2 | 3_prime_UTR_variant | MODIFIER | c.*334G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 47/47 | 334 | chr5 | 37065226 | |||||
| chr5:37065340
|
GA | G | 4 | a0001c0004t0002a0001c0004t0005a0001c0006t0002others(1): Show | 17 | HG01109.hp2 HG02145.hp2 HG02451.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*460delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 47/47 | 460 | INFO_REALIGN_3_PRIME | chr5 | 37065340 | ||||
| chr5:37065514
|
T | C | 1 | a0001c0004t0005 | 1 | HG02630.hp1 | 3_prime_UTR_variant | MODIFIER | c.*622T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 47/47 | 622 | chr5 | 37065514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:36877203
|
C | T | 1 | a0001c0001t0001g0326 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-80+25C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36877203 | ||||||
| chr5:36877294
|
C | T | 2 | a0001c0001t0001g0324a0001c0001t0001g0325 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-80+116C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36877294 | ||||||
| chr5:36877347
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.-80+169G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36877347 | ||||||
| chr5:36877409
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-80+231G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36877409 | ||||||
| chr5:36878067
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-80+889G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878067 | ||||||
| chr5:36878174
|
G | C | 1 | a0001c0001t0001g0009 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-80+996G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878174 | ||||||
| chr5:36878383
|
C | T | 1 | a0002c0003t0001g0323 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-80+1205C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878383 | ||||||
| chr5:36878469
|
G | C | 1 | a0001c0001t0001g0010 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-80+1291G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878469 | ||||||
| chr5:36878678
|
A | G | 227 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(224): Show | 229 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.-80+1500A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878678 | ||||||
| chr5:36878744
|
A | G | 1 | a0001c0002t0001g0322 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-80+1566A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878744 | ||||||
| chr5:36878974
|
G | C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+1796G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36878974 | ||||||
| chr5:36879133
|
C | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+1955C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36879133 | ||||||
| chr5:36879274
|
G | A | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-80+2096G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36879274 | ||||||
| chr5:36879320
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+2142T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36879320 | ||||||
| chr5:36879591
|
T | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+2413T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36879591 | ||||||
| chr5:36879760
|
A | G | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-80+2582A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36879760 | ||||||
| chr5:36880089
|
G | A | 1 | a0001c0001t0001g0113 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-80+2911G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880089 | ||||||
| chr5:36880138
|
C | CA | 325 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(322): Show | 327 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
intron_variant | MODIFIER | c.-80+2962dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36880138 | |||||
| chr5:36880238
|
A | G | 1 | a0001c0006t0002g0321 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-80+3060A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880238 | ||||||
| chr5:36880406
|
G | C | 2 | a0001c0002t0001g0114a0001c0002t0001g0115 | 2 | HG00408.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.-80+3228G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880406 | ||||||
| chr5:36880406
|
GTGCT | G | 20 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(17): Show | 20 | HG00673.hp2 HG01109.hp1 HG01952.hp1 others(17): Show |
intron_variant | MODIFIER | c.-80+3230_-80+3233d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36880406 | |||||
| chr5:36880422
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-80+3244G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880422 | ||||||
| chr5:36880483
|
A | G | 12 | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0096others(9): Show | 12 | HG00735.hp1 HG00738.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.-80+3305A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880483 | ||||||
| chr5:36880766
|
C | A | 3 | a0002c0003t0001g0136a0002c0003t0001g0137a0002c0003t0001g0138 | 3 | HG01891.hp1 HG02486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-80+3588C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880766 | ||||||
| chr5:36880769
|
C | T | 225 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.-80+3591C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880769 | ||||||
| chr5:36880796
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.-80+3618G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880796 | ||||||
| chr5:36880850
|
G | C | 2 | a0001c0006t0002g0316a0006c0018t0001g0317 | 2 | HG02615.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-80+3672G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880850 | ||||||
| chr5:36880954
|
A | G | 1 | a0001c0006t0001g0320 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-80+3776A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36880954 | ||||||
| chr5:36881044
|
C | T | 2 | a0001c0002t0001g0114a0001c0002t0001g0115 | 2 | HG00408.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.-80+3866C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36881044 | ||||||
| chr5:36881052
|
A | G | 5 | a0001c0001t0001g0314a0002c0003t0001g0310a0002c0003t0001g0311others(2): Show | 5 | HG01884.hp1 HG02572.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.-80+3874A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36881052 | ||||||
| chr5:36881199
|
C | T | 1 | a0001c0001t0001g0092 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-80+4021C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36881199 | ||||||
| chr5:36881296
|
A | AT | 8 | a0001c0001t0001g0091a0001c0001t0001g0103a0001c0001t0001g0111others(5): Show | 8 | HG00323.hp1 HG00738.hp1 HG01517.hp1 others(5): Show |
intron_variant | MODIFIER | c.-80+4130dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36881296 | |||||
| chr5:36881296
|
A | ATT | 72 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.-80+4129_-80+4130d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36881296 | |||||
| chr5:36881475
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-80+4297G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36881475 | ||||||
| chr5:36881505
|
C | T | 1 | a0002c0003t0003g0240 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-80+4327C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36881505 | ||||||
| chr5:36882020
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(2): Show | 7 | HG00639.hp2 HG00642.hp2 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.-80+4842T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882020 | ||||||
| chr5:36882108
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+4930C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882108 | ||||||
| chr5:36882369
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+5191A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882369 | ||||||
| chr5:36882531
|
C | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+5353C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882531 | ||||||
| chr5:36882710
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+5532A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882710 | ||||||
| chr5:36882859
|
C | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+5681C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882859 | ||||||
| chr5:36882885
|
T | A | 16 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(13): Show | 16 | HG00323.hp1 HG00544.hp1 HG01192.hp2 others(13): Show |
intron_variant | MODIFIER | c.-80+5707T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882885 | ||||||
| chr5:36882886
|
A | T | 116 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0090others(113): Show | 118 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(115): Show |
intron_variant | MODIFIER | c.-80+5708A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882886 | ||||||
| chr5:36882904
|
G | A | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-80+5726G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882904 | ||||||
| chr5:36882917
|
G | A | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.-80+5739G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882917 | ||||||
| chr5:36882986
|
G | T | 71 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.-80+5808G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36882986 | ||||||
| chr5:36883215
|
T | C | 1 | a0001c0001t0001g0206 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-80+6037T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883215 | ||||||
| chr5:36883218
|
A | C | 3 | a0001c0002t0001g0305a0001c0002t0001g0306a0001c0002t0001g0307 | 3 | NA18961.hp1 NA19078.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.-80+6040A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883218 | ||||||
| chr5:36883297
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+6119T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883297 | ||||||
| chr5:36883378
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+6200T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883378 | ||||||
| chr5:36883489
|
T | G | 1 | a0001c0001t0001g0154 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-80+6311T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883489 | ||||||
| chr5:36883516
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.-80+6338A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883516 | ||||||
| chr5:36883557
|
T | TAATA | 225 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.-80+6382_-80+6383i others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36883557 | |||||
| chr5:36883595
|
C | T | 1 | a0008c0014t0002g0319 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-80+6417C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883595 | ||||||
| chr5:36883605
|
G | T | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.-80+6427G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883605 | ||||||
| chr5:36883685
|
C | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+6507C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883685 | ||||||
| chr5:36883738
|
G | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+6560G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883738 | ||||||
| chr5:36883802
|
A | G | 1 | a0001c0001t0001g0112 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-80+6624A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883802 | ||||||
| chr5:36883809
|
A | G | 3 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0326 | 3 | HG01192.hp1 HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-80+6631A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883809 | ||||||
| chr5:36883819
|
G | GT | 9 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | HG01255.hp1 HG01256.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.-80+6652dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36883819 | |||||
| chr5:36883819
|
G | GTT | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+6651_-80+6652d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36883819 | |||||
| chr5:36883950
|
A | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+6772A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36883950 | ||||||
| chr5:36884064
|
A | G | 71 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.-80+6886A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884064 | ||||||
| chr5:36884212
|
T | G | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-80+7034T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884212 | ||||||
| chr5:36884230
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+7052A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884230 | ||||||
| chr5:36884383
|
T | C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+7205T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884383 | ||||||
| chr5:36884400
|
C | T | 1 | a0001c0002t0001g0239 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-80+7222C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884400 | ||||||
| chr5:36884682
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+7504A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884682 | ||||||
| chr5:36884792
|
A | G | 1 | a0001c0001t0001g0236 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-80+7614A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884792 | ||||||
| chr5:36884845
|
A | G | 12 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(9): Show | 12 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.-80+7667A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884845 | ||||||
| chr5:36884988
|
G | A | 69 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.-80+7810G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36884988 | ||||||
| chr5:36885100
|
T | A | 1 | a0001c0002t0001g0245 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-80+7922T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36885100 | ||||||
| chr5:36885505
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.-80+8327A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36885505 | ||||||
| chr5:36885743
|
G | A | 1 | a0001c0004t0002g0193 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-80+8565G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36885743 | ||||||
| chr5:36886228
|
C | T | 1 | a0001c0002t0001g0301 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-80+9050C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886228 | ||||||
| chr5:36886605
|
A | AT | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-80+9434dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36886605 | |||||
| chr5:36886734
|
C | T | 53 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(50): Show | 55 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.-80+9556C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886734 | ||||||
| chr5:36886780
|
G | C | 1 | a0002c0003t0003g0240 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-80+9602G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886780 | ||||||
| chr5:36886795
|
C | T | 1 | a0001c0001t0001g0326 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-80+9617C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886795 | ||||||
| chr5:36886886
|
T | A | 1 | a0001c0001t0001g0012 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-80+9708T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886886 | ||||||
| chr5:36886894
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+9716G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36886894 | ||||||
| chr5:36887096
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-80+9918C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887096 | ||||||
| chr5:36887470
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.-80+10292T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887470 | ||||||
| chr5:36887589
|
C | T | 2 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-80+10411C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887589 | ||||||
| chr5:36887793
|
T | C | 219 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(216): Show | 221 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(218): Show |
intron_variant | MODIFIER | c.-80+10615T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887793 | ||||||
| chr5:36887855
|
C | T | 1 | a0001c0001t0001g0235 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-80+10677C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887855 | ||||||
| chr5:36887943
|
C | T | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.-80+10765C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36887943 | ||||||
| chr5:36888491
|
G | C | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+11313G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888491 | ||||||
| chr5:36888515
|
C | T | 2 | a0001c0001t0001g0009a0001c0001t0001g0113 | 2 | HG02109.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.-80+11337C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888515 | ||||||
| chr5:36888724
|
C | G | 1 | a0002c0003t0001g0131 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.-80+11546C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888724 | ||||||
| chr5:36888889
|
T | C | 1 | a0001c0002t0001g0246 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-80+11711T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888889 | ||||||
| chr5:36888906
|
A | G | 1 | a0001c0001t0001g0234 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-80+11728A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888906 | ||||||
| chr5:36888976
|
T | C | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-80+11798T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36888976 | ||||||
| chr5:36889068
|
A | G | 72 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.-80+11890A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36889068 | ||||||
| chr5:36889478
|
A | G | 16 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(13): Show | 16 | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.-80+12300A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36889478 | ||||||
| chr5:36889486
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.-80+12308T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36889486 | ||||||
| chr5:36889734
|
T | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+12556T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36889734 | ||||||
| chr5:36889927
|
TACATGCT others(8): Show |
T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+12751_-80+1276 others(19): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36889927 | |||||
| chr5:36890102
|
T | C | 1 | a0001c0002t0001g0247 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-80+12924T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890102 | ||||||
| chr5:36890143
|
T | C | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+12965T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890143 | ||||||
| chr5:36890211
|
A | G | 2 | a0001c0001t0001g0324a0001c0001t0001g0325 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-80+13033A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890211 | ||||||
| chr5:36890247
|
GT | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+13075delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36890247 | |||||
| chr5:36890333
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+13155G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890333 | ||||||
| chr5:36890445
|
A | G | 66 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(63): Show | 68 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.-80+13267A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890445 | ||||||
| chr5:36890517
|
G | A | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.-80+13339G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890517 | ||||||
| chr5:36890564
|
T | C | 1 | a0001c0001t0001g0019 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-80+13386T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890564 | ||||||
| chr5:36890592
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-80+13414G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890592 | ||||||
| chr5:36890604
|
A | G | 1 | a0001c0001t0001g0084 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-80+13426A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890604 | ||||||
| chr5:36890652
|
G | A | 1 | a0001c0001t0001g0208 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-80+13474G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890652 | ||||||
| chr5:36890899
|
C | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+13721C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36890899 | ||||||
| chr5:36891156
|
T | C | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+13978T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36891156 | ||||||
| chr5:36891200
|
G | A | 2 | a0001c0002t0001g0242a0001c0002t0001g0250 | 2 | NA18983.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.-80+14022G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36891200 | ||||||
| chr5:36891288
|
T | C | 1 | a0001c0001t0001g0020 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-80+14110T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36891288 | ||||||
| chr5:36891591
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-80+14413C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36891591 | ||||||
| chr5:36891592
|
T | G | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-80+14414T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36891592 | ||||||
| chr5:36892025
|
A | G | 15 | a0002c0003t0001g0119a0002c0003t0001g0120a0002c0003t0001g0121others(12): Show | 15 | HG00673.hp2 HG01952.hp1 HG02165.hp2 others(12): Show |
intron_variant | MODIFIER | c.-80+14847A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892025 | ||||||
| chr5:36892327
|
T | C | 8 | a0002c0003t0001g0119a0002c0003t0001g0120a0002c0003t0001g0121others(5): Show | 8 | HG01952.hp1 HG02293.hp1 NA18951.hp1 others(5): Show |
intron_variant | MODIFIER | c.-80+15149T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892327 | ||||||
| chr5:36892331
|
T | C | 8 | a0002c0003t0001g0119a0002c0003t0001g0120a0002c0003t0001g0121others(5): Show | 8 | HG01952.hp1 HG02293.hp1 NA18951.hp1 others(5): Show |
intron_variant | MODIFIER | c.-80+15153T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892331 | ||||||
| chr5:36892336
|
G | T | 13 | a0001c0002t0001g0246a0001c0002t0001g0289a0001c0002t0001g0290others(10): Show | 13 | HG00099.hp1 HG00735.hp2 HG03017.hp2 others(10): Show |
intron_variant | MODIFIER | c.-80+15158G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892336 | ||||||
| chr5:36892337
|
T | G | 8 | a0002c0003t0001g0119a0002c0003t0001g0120a0002c0003t0001g0121others(5): Show | 8 | HG01952.hp1 HG02293.hp1 NA18951.hp1 others(5): Show |
intron_variant | MODIFIER | c.-80+15159T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892337 | ||||||
| chr5:36892502
|
G | A | 3 | a0002c0003t0001g0119a0002c0003t0001g0120a0002c0003t0001g0323 | 3 | HG01099.hp2 HG01952.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.-80+15324G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36892502 | ||||||
| chr5:36893128
|
T | C | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+15950T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893128 | ||||||
| chr5:36893325
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-80+16147T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893325 | ||||||
| chr5:36893332
|
A | G | 1 | a0001c0002t0001g0288 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-80+16154A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893332 | ||||||
| chr5:36893357
|
A | G | 3 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083 | 3 | HG02165.hp1 NA19074.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.-80+16179A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893357 | ||||||
| chr5:36893574
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-80+16396A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893574 | ||||||
| chr5:36893670
|
T | C | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+16492T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893670 | ||||||
| chr5:36893762
|
C | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+16584C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893762 | ||||||
| chr5:36893775
|
T | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+16597T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893775 | ||||||
| chr5:36893841
|
C | A | 1 | a0001c0002t0001g0251 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-80+16663C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893841 | ||||||
| chr5:36893955
|
A | G | 16 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(13): Show | 16 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.-80+16777A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893955 | ||||||
| chr5:36893997
|
T | C | 1 | a0001c0001t0001g0154 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-80+16819T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36893997 | ||||||
| chr5:36894651
|
C | T | 1 | a0001c0001t0001g0017 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-80+17473C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36894651 | ||||||
| chr5:36894804
|
T | G | 1 | a0001c0001t0001g0002 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-80+17626T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36894804 | ||||||
| chr5:36895066
|
A | G | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-80+17888A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895066 | ||||||
| chr5:36895093
|
C | G | 1 | a0001c0002t0001g0287 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.-80+17915C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895093 | ||||||
| chr5:36895168
|
A | G | 72 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.-80+17990A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895168 | ||||||
| chr5:36895421
|
T | C | 1 | a0002c0003t0001g0159 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.-80+18243T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895421 | ||||||
| chr5:36895422
|
A | G | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.-80+18244A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895422 | ||||||
| chr5:36895971
|
T | G | 72 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.-80+18793T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36895971 | ||||||
| chr5:36896019
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-80+18841C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896019 | ||||||
| chr5:36896062
|
GCACTTA | G | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-80+18887_-80+1889 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36896062 | |||||
| chr5:36896068
|
A | C | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-80+18890A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896068 | ||||||
| chr5:36896209
|
T | G | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-80+19031T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896209 | ||||||
| chr5:36896605
|
G | C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+19427G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896605 | ||||||
| chr5:36896666
|
C | T | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-80+19488C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896666 | ||||||
| chr5:36896699
|
A | G | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.-80+19521A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896699 | ||||||
| chr5:36896714
|
C | G | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-80+19536C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896714 | ||||||
| chr5:36896836
|
G | A | 5 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(2): Show | 5 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.-80+19658G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896836 | ||||||
| chr5:36896844
|
C | T | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.-80+19666C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896844 | ||||||
| chr5:36896859
|
C | G | 1 | a0001c0001t0001g0079 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-80+19681C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36896859 | ||||||
| chr5:36897007
|
A | AT | 8 | a0001c0002t0001g0286a0001c0006t0001g0320a0001c0006t0002g0316others(5): Show | 8 | HG01109.hp1 HG02083.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-80+19842dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36897007 | |||||
| chr5:36897007
|
AT | A | 14 | a0001c0001t0001g0021a0001c0001t0001g0183a0001c0001t0001g0184others(11): Show | 14 | HG02451.hp2 HG02630.hp2 HG02896.hp2 others(11): Show |
intron_variant | MODIFIER | c.-80+19842delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36897007 | |||||
| chr5:36897008
|
T | TA | 14 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0147others(11): Show | 14 | HG00738.hp2 HG02109.hp1 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.-80+19830_-80+1983 others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897008 | ||||||
| chr5:36897009
|
T | A | 65 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0141others(62): Show | 67 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.-80+19831T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897009 | ||||||
| chr5:36897010
|
T | A | 5 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(2): Show | 5 | HG00738.hp2 HG02109.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+19832T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897010 | ||||||
| chr5:36897065
|
C | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+19887C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897065 | ||||||
| chr5:36897171
|
T | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-80+19993T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897171 | ||||||
| chr5:36897291
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-80+20113C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897291 | ||||||
| chr5:36897834
|
A | G | 2 | a0001c0001t0001g0232a0001c0001t0001g0233 | 2 | HG03490.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.-80+20656A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897834 | ||||||
| chr5:36897888
|
G | GA | 44 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(41): Show | 46 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.-80+20727dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36897888 | |||||
| chr5:36897888
|
GA | G | 12 | a0001c0001t0001g0077a0001c0001t0001g0091a0001c0001t0001g0147others(9): Show | 12 | HG01192.hp2 HG02083.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.-80+20727delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36897888 | |||||
| chr5:36897889
|
A | G | 5 | a0001c0001t0001g0102a0001c0001t0001g0187a0001c0001t0001g0188others(2): Show | 5 | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+20711A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36897889 | ||||||
| chr5:36898098
|
T | A | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-80+20920T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898098 | ||||||
| chr5:36898511
|
C | CT | 69 | a0001c0001t0001g0008a0001c0001t0001g0072a0001c0001t0001g0073others(66): Show | 69 | HG00099.hp1 HG00642.hp1 HG00673.hp2 others(66): Show |
intron_variant | MODIFIER | c.-80+21350dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36898511 | |||||
| chr5:36898533
|
C | T | 1 | a0001c0001t0001g0230 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-80+21355C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898533 | ||||||
| chr5:36898584
|
T | G | 1 | a0001c0001t0001g0022 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-80+21406T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898584 | ||||||
| chr5:36898598
|
G | A | 1 | a0001c0001t0001g0023 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-80+21420G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898598 | ||||||
| chr5:36898660
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-80+21482C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898660 | ||||||
| chr5:36898666
|
C | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+21488C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898666 | ||||||
| chr5:36898700
|
G | C | 2 | a0001c0002t0001g0289a0001c0002t0001g0290 | 2 | HG03017.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.-80+21522G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898700 | ||||||
| chr5:36898883
|
A | G | 1 | a0001c0002t0001g0292 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-80+21705A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36898883 | ||||||
| chr5:36898980
|
G | GAATTTTA others(1): Show |
5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+21807_-80+2181 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36898980 | |||||
| chr5:36899190
|
GAC | G | 10 | a0001c0001t0001g0023a0001c0001t0001g0067a0001c0001t0001g0069others(7): Show | 10 | NA18950.hp1 NA18951.hp2 NA18953.hp2 others(7): Show |
intron_variant | MODIFIER | c.-80+22014_-80+2201 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36899190 | |||||
| chr5:36899412
|
G | A | 1 | a0001c0002t0001g0251 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-80+22234G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36899412 | ||||||
| chr5:36899565
|
G | A | 4 | a0001c0001t0001g0010a0001c0001t0001g0210a0001c0001t0001g0230others(1): Show | 4 | NA18965.hp1 NA18978.hp1 NA19080.hp2 others(1): Show |
intron_variant | MODIFIER | c.-80+22387G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36899565 | ||||||
| chr5:36899716
|
G | A | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-80+22538G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36899716 | ||||||
| chr5:36899849
|
T | C | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-80+22671T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36899849 | ||||||
| chr5:36899987
|
T | A | 1 | a0001c0001t0001g0177 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-80+22809T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36899987 | ||||||
| chr5:36900291
|
A | G | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-80+23113A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900291 | ||||||
| chr5:36900383
|
A | T | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+23205A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900383 | ||||||
| chr5:36900392
|
G | T | 1 | a0001c0002t0001g0243 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-80+23214G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900392 | ||||||
| chr5:36900409
|
C | T | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+23231C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900409 | ||||||
| chr5:36900448
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+23270A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900448 | ||||||
| chr5:36900741
|
G | A | 71 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0273others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(68): Show |
intron_variant | MODIFIER | c.-80+23563G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36900741 | ||||||
| chr5:36901228
|
A | G | 1 | a0001c0001t0001g0066 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.-80+24050A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901228 | ||||||
| chr5:36901490
|
C | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+24312C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901490 | ||||||
| chr5:36901500
|
C | CT | 53 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0060others(50): Show | 53 | HG00140.hp1 HG00544.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-80+24348dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901500
|
C | CTT | 33 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(30): Show | 33 | HG00673.hp2 HG01109.hp2 HG01192.hp2 others(30): Show |
intron_variant | MODIFIER | c.-80+24347_-80+2434 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901500
|
CT | C | 115 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(112): Show | 117 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.-80+24348delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901500
|
CTT | C | 12 | a0001c0001t0001g0091a0001c0001t0001g0111a0001c0001t0001g0112others(9): Show | 12 | HG00323.hp1 HG01346.hp2 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.-80+24347_-80+2434 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901500
|
CTTTTTTT others(7): Show |
C | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-80+24335_-80+2434 others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901500
|
CTTTTTTT others(8): Show |
C | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.-80+24334_-80+2434 others(19): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36901500 | |||||
| chr5:36901512
|
T | C | 13 | a0001c0001t0001g0024a0001c0001t0001g0093a0001c0001t0001g0095others(10): Show | 13 | HG00735.hp1 HG00738.hp1 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.-80+24334T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901512 | ||||||
| chr5:36901531
|
C | G | 1 | a0001c0001t0001g0326 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-80+24353C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901531 | ||||||
| chr5:36901655
|
G | A | 5 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180others(2): Show | 5 | HG02258.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+24477G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901655 | ||||||
| chr5:36901659
|
A | G | 1 | a0001c0001t0001g0237 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-80+24481A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901659 | ||||||
| chr5:36901757
|
C | G | 1 | a0001c0001t0001g0226 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-80+24579C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901757 | ||||||
| chr5:36901828
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-80+24650G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901828 | ||||||
| chr5:36901864
|
A | G | 1 | a0001c0004t0002g0193 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-80+24686A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901864 | ||||||
| chr5:36901942
|
A | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+24764A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901942 | ||||||
| chr5:36901963
|
A | G | 3 | a0001c0001t0001g0022a0001c0002t0001g0242a0001c0002t0001g0250 | 3 | NA18946.hp2 NA18983.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.-80+24785A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36901963 | ||||||
| chr5:36902189
|
G | C | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+25011G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36902189 | ||||||
| chr5:36902590
|
C | G | 1 | a0001c0002t0001g0288 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-80+25412C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36902590 | ||||||
| chr5:36902627
|
G | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+25449G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36902627 | ||||||
| chr5:36902686
|
GGCTTTGT others(7): Show |
G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+25513_-80+2552 others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36902686 | |||||
| chr5:36902780
|
G | T | 9 | a0001c0001t0001g0021a0001c0001t0001g0111a0001c0001t0001g0112others(6): Show | 9 | HG00323.hp1 HG02257.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.-80+25602G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36902780 | ||||||
| chr5:36902834
|
A | G | 14 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(11): Show | 14 | HG02145.hp2 HG02630.hp1 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.-80+25656A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36902834 | ||||||
| chr5:36903084
|
A | G | 2 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-80+25906A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903084 | ||||||
| chr5:36903386
|
A | G | 9 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(6): Show | 9 | HG02165.hp1 NA18947.hp1 NA18955.hp1 others(6): Show |
intron_variant | MODIFIER | c.-80+26208A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903386 | ||||||
| chr5:36903549
|
C | G | 1 | a0001c0001t0001g0065 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-80+26371C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903549 | ||||||
| chr5:36903598
|
G | A | 39 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(36): Show | 39 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.-80+26420G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903598 | ||||||
| chr5:36903671
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-80+26493T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903671 | ||||||
| chr5:36903843
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.-80+26665G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36903843 | ||||||
| chr5:36904297
|
T | C | 214 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(211): Show | 216 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(213): Show |
intron_variant | MODIFIER | c.-80+27119T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904297 | ||||||
| chr5:36904492
|
A | G | 1 | a0001c0001t0001g0233 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-80+27314A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904492 | ||||||
| chr5:36904645
|
G | C | 2 | a0001c0001t0001g0013a0001c0001t0001g0014 | 2 | HG01952.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.-80+27467G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904645 | ||||||
| chr5:36904684
|
C | T | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-80+27506C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904684 | ||||||
| chr5:36904742
|
G | A | 1 | a0002c0003t0001g0126 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-80+27564G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904742 | ||||||
| chr5:36904853
|
G | C | 1 | a0001c0001t0001g0030 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-80+27675G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904853 | ||||||
| chr5:36904924
|
G | A | 1 | a0001c0019t0001g0176 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-80+27746G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36904924 | ||||||
| chr5:36905021
|
A | G | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.-80+27843A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905021 | ||||||
| chr5:36905083
|
A | AGGTT | 3 | a0001c0001t0001g0031a0001c0001t0001g0060a0001c0001t0001g0231 | 3 | HG00323.hp2 HG01123.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.-80+27930_-80+2793 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36905083 | |||||
| chr5:36905108
|
G | T | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-80+27930G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905108 | ||||||
| chr5:36905157
|
G | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+27979G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905157 | ||||||
| chr5:36905206
|
A | G | 1 | a0002c0003t0001g0313 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-80+28028A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905206 | ||||||
| chr5:36905428
|
C | T | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG00639.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.-80+28250C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905428 | ||||||
| chr5:36905543
|
T | C | 1 | a0001c0002t0007g0254 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.-80+28365T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905543 | ||||||
| chr5:36905553
|
G | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-80+28375G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905553 | ||||||
| chr5:36905751
|
G | GT | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-80+28583dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36905751 | |||||
| chr5:36905986
|
C | T | 1 | a0001c0001t0001g0154 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-80+28808C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36905986 | ||||||
| chr5:36906093
|
A | G | 1 | a0002c0003t0001g0120 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-80+28915A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36906093 | ||||||
| chr5:36906223
|
C | T | 1 | a0001c0001t0001g0184 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-80+29045C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36906223 | ||||||
| chr5:36906331
|
C | T | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-80+29153C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36906331 | ||||||
| chr5:36906928
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+29750A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36906928 | ||||||
| chr5:36907132
|
T | C | 1 | a0002c0003t0001g0118 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-80+29954T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36907132 | ||||||
| chr5:36907602
|
A | G | 1 | a0002c0003t0001g0117 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.-80+30424A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36907602 | ||||||
| chr5:36907668
|
C | G | 1 | a0002c0003t0001g0129 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-80+30490C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36907668 | ||||||
| chr5:36907755
|
T | A | 1 | a0001c0001t0001g0032 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-80+30577T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36907755 | ||||||
| chr5:36907976
|
A | G | 1 | a0001c0002t0001g0278 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-80+30798A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36907976 | ||||||
| chr5:36908091
|
A | G | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-80+30913A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908091 | ||||||
| chr5:36908185
|
A | C | 1 | a0001c0002t0001g0277 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-80+31007A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908185 | ||||||
| chr5:36908314
|
T | C | 1 | a0001c0001t0001g0155 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-80+31136T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908314 | ||||||
| chr5:36908427
|
A | ATAG | 64 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 66 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.-80+31249_-80+3125 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908427 | ||||||
| chr5:36908430
|
T | TTTTCCTA | 64 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 66 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.-80+31253_-80+3125 others(11): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36908430 | |||||
| chr5:36908547
|
G | A | 1 | a0001c0001t0001g0024 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-80+31369G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908547 | ||||||
| chr5:36908906
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+31728A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36908906 | ||||||
| chr5:36909160
|
G | A | 1 | a0001c0002t0001g0114 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-80+31982G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36909160 | ||||||
| chr5:36909738
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-80+32560T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36909738 | ||||||
| chr5:36909813
|
C | T | 2 | a0001c0001t0001g0183a0001c0001t0001g0237 | 2 | HG02630.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.-80+32635C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36909813 | ||||||
| chr5:36910015
|
G | A | 1 | a0001c0002t0001g0289 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-80+32837G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36910015 | ||||||
| chr5:36910073
|
T | TA | 9 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(6): Show | 9 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.-80+32909dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36910073 | |||||
| chr5:36910183
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+33005A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36910183 | ||||||
| chr5:36910375
|
CTAAT | C | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+33198_-80+3320 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36910375 | ||||||
| chr5:36910584
|
C | G | 1 | a0001c0001t0001g0053 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-80+33406C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36910584 | ||||||
| chr5:36910664
|
T | C | 1 | a0001c0004t0005g0197 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-80+33486T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36910664 | ||||||
| chr5:36911062
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-80+33884A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911062 | ||||||
| chr5:36911187
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+34009G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911187 | ||||||
| chr5:36911498
|
A | G | 1 | a0001c0001t0001g0169 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-80+34320A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911498 | ||||||
| chr5:36911514
|
T | G | 233 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(230): Show | 235 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(232): Show |
intron_variant | MODIFIER | c.-80+34336T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911514 | ||||||
| chr5:36911766
|
T | G | 1 | a0002c0003t0001g0130 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-80+34588T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911766 | ||||||
| chr5:36911985
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-80+34807G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36911985 | ||||||
| chr5:36912384
|
C | T | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-80+35206C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912384 | ||||||
| chr5:36912501
|
A | AT | 11 | a0001c0001t0001g0024a0001c0001t0001g0152a0001c0001t0001g0192others(8): Show | 11 | HG01261.hp1 HG01361.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+35341dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36912501 | |||||
| chr5:36912518
|
T | G | 1 | a0001c0004t0002g0193 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-80+35340T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912518 | ||||||
| chr5:36912519
|
T | G | 39 | a0001c0001t0001g0006a0001c0001t0001g0057a0001c0001t0001g0058others(36): Show | 39 | HG01074.hp1 HG01109.hp2 HG01192.hp2 others(36): Show |
intron_variant | MODIFIER | c.-80+35341T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912519 | ||||||
| chr5:36912791
|
C | T | 2 | a0002c0003t0003g0165a0002c0003t0003g0240 | 2 | HG03710.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.-80+35613C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912791 | ||||||
| chr5:36912854
|
C | T | 1 | a0002c0003t0001g0291 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-80+35676C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912854 | ||||||
| chr5:36912867
|
C | T | 1 | a0001c0001t0001g0142 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-80+35689C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36912867 | ||||||
| chr5:36913046
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-80+35868A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913046 | ||||||
| chr5:36913103
|
G | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+35925G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913103 | ||||||
| chr5:36913321
|
C | T | 1 | a0002c0003t0001g0164 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-80+36143C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913321 | ||||||
| chr5:36913385
|
C | CT | 18 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0052others(15): Show | 18 | HG00408.hp2 HG00621.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.-80+36225dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36913385 | |||||
| chr5:36913385
|
CT | C | 28 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0025others(25): Show | 28 | HG01109.hp2 HG01256.hp2 HG01257.hp2 others(25): Show |
intron_variant | MODIFIER | c.-80+36225delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36913385 | |||||
| chr5:36913410
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-80+36232A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913410 | ||||||
| chr5:36913599
|
C | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+36421C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913599 | ||||||
| chr5:36913794
|
C | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-80+36616C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913794 | ||||||
| chr5:36913976
|
A | G | 9 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(6): Show | 9 | HG02451.hp2 HG02630.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.-80+36798A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36913976 | ||||||
| chr5:36914077
|
C | T | 70 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.-80+36899C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914077 | ||||||
| chr5:36914316
|
C | T | 1 | a0001c0001t0001g0230 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-80+37138C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914316 | ||||||
| chr5:36914406
|
G | GAAATCCA others(10): Show |
11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-80+37239_-80+3725 others(21): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36914406 | |||||
| chr5:36914725
|
A | G | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-80+37547A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914725 | ||||||
| chr5:36914730
|
G | A | 1 | a0001c0002t0001g0290 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-80+37552G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914730 | ||||||
| chr5:36914948
|
T | G | 1 | a0001c0001t0001g0026 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.-80+37770T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914948 | ||||||
| chr5:36914987
|
T | A | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-80+37809T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36914987 | ||||||
| chr5:36915277
|
T | C | 1 | a0001c0001t0001g0060 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-80+38099T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36915277 | ||||||
| chr5:36915374
|
T | A | 4 | a0001c0001t0001g0010a0001c0001t0001g0210a0001c0001t0001g0230others(1): Show | 4 | NA18965.hp1 NA18978.hp1 NA19080.hp2 others(1): Show |
intron_variant | MODIFIER | c.-80+38196T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36915374 | ||||||
| chr5:36915488
|
A | G | 1 | a0002c0003t0001g0163 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-79-38130A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36915488 | ||||||
| chr5:36915652
|
T | A | 3 | a0001c0004t0002g0194a0001c0004t0002g0195a0001c0004t0002g0198 | 3 | HG01109.hp2 HG02896.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-79-37966T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36915652 | ||||||
| chr5:36915862
|
G | A | 1 | a0001c0004t0002g0199 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-79-37756G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36915862 | ||||||
| chr5:36916069
|
G | C | 1 | a0001c0001t0001g0026 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.-79-37549G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916069 | ||||||
| chr5:36916115
|
A | G | 4 | a0001c0001t0001g0178a0001c0001t0001g0180a0001c0001t0001g0181others(1): Show | 4 | HG02258.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-37503A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916115 | ||||||
| chr5:36916203
|
T | C | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-79-37415T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916203 | ||||||
| chr5:36916252
|
A | G | 3 | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0236 | 3 | HG00558.hp1 NA18950.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-79-37366A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916252 | ||||||
| chr5:36916443
|
G | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-37175G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916443 | ||||||
| chr5:36916508
|
T | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-37110T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916508 | ||||||
| chr5:36916759
|
T | C | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-79-36859T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916759 | ||||||
| chr5:36916765
|
G | A | 12 | a0001c0001t0001g0024a0001c0001t0001g0093a0001c0001t0001g0095others(9): Show | 12 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.-79-36853G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916765 | ||||||
| chr5:36916899
|
A | G | 130 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(127): Show | 132 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(129): Show |
intron_variant | MODIFIER | c.-79-36719A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916899 | ||||||
| chr5:36916950
|
G | A | 1 | a0001c0002t0001g0246 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-79-36668G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916950 | ||||||
| chr5:36916980
|
T | C | 1 | a0001c0019t0001g0176 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-79-36638T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36916980 | ||||||
| chr5:36917324
|
C | A | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-79-36294C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917324 | ||||||
| chr5:36917505
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-36113A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917505 | ||||||
| chr5:36917555
|
C | T | 1 | a0002c0003t0001g0117 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.-79-36063C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917555 | ||||||
| chr5:36917649
|
G | C | 5 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(2): Show | 5 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.-79-35969G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917649 | ||||||
| chr5:36917881
|
A | G | 1 | a0002c0003t0001g0137 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-79-35737A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917881 | ||||||
| chr5:36917938
|
A | G | 1 | a0001c0001t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-79-35680A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36917938 | ||||||
| chr5:36918000
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-79-35618A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918000 | ||||||
| chr5:36918004
|
T | C | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-79-35614T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918004 | ||||||
| chr5:36918025
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35593G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918025 | ||||||
| chr5:36918063
|
A | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35555A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918063 | ||||||
| chr5:36918079
|
A | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35539A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918079 | ||||||
| chr5:36918083
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35535A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918083 | ||||||
| chr5:36918087
|
G | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35531G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918087 | ||||||
| chr5:36918088
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35530G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918088 | ||||||
| chr5:36918101
|
A | G | 3 | a0001c0001t0001g0172a0001c0004t0001g0173a0001c0004t0001g0174 | 3 | HG03098.hp1 HG03471.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-79-35517A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918101 | ||||||
| chr5:36918108
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35510C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918108 | ||||||
| chr5:36918116
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35502G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918116 | ||||||
| chr5:36918131
|
C | T | 2 | a0001c0001t0001g0015a0001c0001t0001g0172 | 2 | HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-79-35487C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918131 | ||||||
| chr5:36918135
|
A | C | 2 | a0001c0001t0001g0015a0001c0001t0001g0172 | 2 | HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-79-35483A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918135 | ||||||
| chr5:36918149
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35469C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918149 | ||||||
| chr5:36918165
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35453G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918165 | ||||||
| chr5:36918177
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35441G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918177 | ||||||
| chr5:36918183
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35435A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918183 | ||||||
| chr5:36918203
|
G | C | 13 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(10): Show | 15 | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-79-35415G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918203 | ||||||
| chr5:36918211
|
A | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35407A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918211 | ||||||
| chr5:36918214
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35404T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918214 | ||||||
| chr5:36918232
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35386T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918232 | ||||||
| chr5:36918247
|
T | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35371T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918247 | ||||||
| chr5:36918287
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35331C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918287 | ||||||
| chr5:36918293
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35325G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918293 | ||||||
| chr5:36918323
|
T | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35295T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918323 | ||||||
| chr5:36918334
|
T | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35284T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918334 | ||||||
| chr5:36918335
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35283T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918335 | ||||||
| chr5:36918341
|
T | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35277T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918341 | ||||||
| chr5:36918344
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35274A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918344 | ||||||
| chr5:36918366
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35252A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918366 | ||||||
| chr5:36918409
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35209C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918409 | ||||||
| chr5:36918424
|
T | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35194T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918424 | ||||||
| chr5:36918454
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35164G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918454 | ||||||
| chr5:36918525
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35093C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918525 | ||||||
| chr5:36918568
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-35050A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918568 | ||||||
| chr5:36918587
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-35031G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918587 | ||||||
| chr5:36918593
|
G | A | 1 | a0002c0003t0001g0323 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-79-35025G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918593 | ||||||
| chr5:36918665
|
C | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34953C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918665 | ||||||
| chr5:36918669
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34949G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918669 | ||||||
| chr5:36918679
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34939G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918679 | ||||||
| chr5:36918683
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34935C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918683 | ||||||
| chr5:36918689
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34929G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918689 | ||||||
| chr5:36918693
|
C | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34925C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918693 | ||||||
| chr5:36918694
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34924G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918694 | ||||||
| chr5:36918710
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34908A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918710 | ||||||
| chr5:36918737
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34881G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918737 | ||||||
| chr5:36918741
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34877T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918741 | ||||||
| chr5:36918773
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34845C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918773 | ||||||
| chr5:36918805
|
C | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34813C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918805 | ||||||
| chr5:36918813
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-34805A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918813 | ||||||
| chr5:36918993
|
T | G | 1 | a0001c0002t0001g0245 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-79-34625T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36918993 | ||||||
| chr5:36919072
|
C | A | 4 | a0001c0001t0001g0032a0001c0001t0001g0111a0001c0001t0001g0112others(1): Show | 4 | HG00323.hp1 HG02683.hp2 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-34546C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919072 | ||||||
| chr5:36919075
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-79-34543G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919075 | ||||||
| chr5:36919249
|
A | G | 1 | a0001c0002t0001g0251 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-79-34369A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919249 | ||||||
| chr5:36919583
|
A | G | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.-79-34035A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919583 | ||||||
| chr5:36919598
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-34020C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919598 | ||||||
| chr5:36919602
|
T | C | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-79-34016T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919602 | ||||||
| chr5:36919753
|
A | G | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-33865A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919753 | ||||||
| chr5:36919953
|
T | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-33665T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36919953 | ||||||
| chr5:36920107
|
G | T | 1 | a0001c0001t0001g0052 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-79-33511G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920107 | ||||||
| chr5:36920173
|
C | A | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.-79-33445C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920173 | ||||||
| chr5:36920202
|
A | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-79-33416A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920202 | ||||||
| chr5:36920226
|
A | G | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-33392A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920226 | ||||||
| chr5:36920278
|
G | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-33340G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920278 | ||||||
| chr5:36920494
|
G | A | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-79-33124G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920494 | ||||||
| chr5:36920716
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-79-32902G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920716 | ||||||
| chr5:36920806
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-32812T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920806 | ||||||
| chr5:36920821
|
C | T | 1 | a0001c0001t0001g0183 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-79-32797C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920821 | ||||||
| chr5:36920825
|
A | AT | 11 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0102others(8): Show | 11 | HG00323.hp1 HG00639.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-32779dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36920825 | |||||
| chr5:36920993
|
A | G | 66 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(63): Show | 68 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.-79-32625A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36920993 | ||||||
| chr5:36921006
|
G | A | 1 | a0001c0002t0001g0256 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-79-32612G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921006 | ||||||
| chr5:36921080
|
T | G | 29 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(26): Show | 29 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.-79-32538T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921080 | ||||||
| chr5:36921101
|
G | T | 2 | a0002c0003t0001g0139a0002c0003t0001g0163 | 2 | HG00642.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.-79-32517G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921101 | ||||||
| chr5:36921223
|
T | C | 54 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(51): Show | 54 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(51): Show |
intron_variant | MODIFIER | c.-79-32395T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921223 | ||||||
| chr5:36921444
|
G | T | 2 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-79-32174G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921444 | ||||||
| chr5:36921564
|
A | T | 5 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(2): Show | 5 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.-79-32054A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921564 | ||||||
| chr5:36921685
|
G | A | 1 | a0001c0001t0001g0061 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.-79-31933G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921685 | ||||||
| chr5:36921737
|
A | C | 301 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(298): Show | 303 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
intron_variant | MODIFIER | c.-79-31881A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921737 | ||||||
| chr5:36921892
|
G | GT | 58 | a0001c0001t0001g0006a0001c0001t0001g0155a0001c0001t0001g0156others(55): Show | 58 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(55): Show |
intron_variant | MODIFIER | c.-79-31714dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36921892 | |||||
| chr5:36921894
|
T | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 6 | HG02071.hp2 HG02165.hp1 NA18978.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-31724T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36921894 | ||||||
| chr5:36922064
|
T | A | 1 | a0001c0002t0001g0255 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-79-31554T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922064 | ||||||
| chr5:36922161
|
T | C | 1 | a0004c0007t0001g0037 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.-79-31457T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922161 | ||||||
| chr5:36922204
|
T | A | 82 | a0001c0001t0001g0010a0001c0001t0001g0210a0001c0001t0001g0211others(79): Show | 82 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.-79-31414T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922204 | ||||||
| chr5:36922438
|
T | C | 10 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(7): Show | 10 | HG00558.hp2 HG00673.hp1 HG02027.hp1 others(7): Show |
intron_variant | MODIFIER | c.-79-31180T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922438 | ||||||
| chr5:36922547
|
A | G | 9 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(6): Show | 9 | HG02451.hp2 HG02630.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.-79-31071A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922547 | ||||||
| chr5:36922585
|
C | T | 1 | a0001c0001t0001g0089 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.-79-31033C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922585 | ||||||
| chr5:36922652
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-30966A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922652 | ||||||
| chr5:36922772
|
T | C | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.-79-30846T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36922772 | ||||||
| chr5:36922984
|
A | AAACCAAT others(8): Show |
6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-30633_-79-3061 others(19): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36922984 | |||||
| chr5:36923010
|
CA | C | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-30607delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923010 | ||||||
| chr5:36923015
|
C | G | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.-79-30603C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923015 | ||||||
| chr5:36923108
|
A | C | 71 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.-79-30510A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923108 | ||||||
| chr5:36923162
|
T | C | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30456T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923162 | ||||||
| chr5:36923165
|
G | A | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30453G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923165 | ||||||
| chr5:36923166
|
T | C | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30452T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923166 | ||||||
| chr5:36923170
|
G | T | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30448G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923170 | ||||||
| chr5:36923175
|
G | A | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30443G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923175 | ||||||
| chr5:36923176
|
T | C | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30442T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923176 | ||||||
| chr5:36923177
|
G | A | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30441G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923177 | ||||||
| chr5:36923179
|
A | G | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30439A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923179 | ||||||
| chr5:36923186
|
G | A | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-79-30432G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923186 | ||||||
| chr5:36923233
|
G | C | 90 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(87): Show | 92 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.-79-30385G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923233 | ||||||
| chr5:36923269
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-79-30349G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923269 | ||||||
| chr5:36923336
|
A | C | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-79-30282A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923336 | ||||||
| chr5:36923361
|
T | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-30257T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923361 | ||||||
| chr5:36923401
|
A | G | 40 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(37): Show | 40 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.-79-30217A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923401 | ||||||
| chr5:36923583
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-30035T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923583 | ||||||
| chr5:36923839
|
T | C | 53 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(50): Show | 53 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(50): Show |
intron_variant | MODIFIER | c.-79-29779T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36923839 | ||||||
| chr5:36924441
|
T | A | 1 | a0002c0003t0001g0124 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.-79-29177T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36924441 | ||||||
| chr5:36924665
|
G | C | 2 | a0001c0004t0002g0194a0001c0004t0002g0195 | 2 | HG01109.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.-79-28953G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36924665 | ||||||
| chr5:36924789
|
A | G | 1 | a0001c0001t0001g0021 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.-79-28829A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36924789 | ||||||
| chr5:36924831
|
C | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0054 | 2 | HG02258.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-79-28787C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36924831 | ||||||
| chr5:36924966
|
G | T | 1 | a0001c0001t0001g0022 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-79-28652G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36924966 | ||||||
| chr5:36925272
|
C | CT | 212 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(209): Show | 214 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.-79-28333dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36925272 | |||||
| chr5:36925272
|
C | CTT | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-28334_-79-2833 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36925272 | |||||
| chr5:36925329
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-28289C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925329 | ||||||
| chr5:36925354
|
C | T | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-28264C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925354 | ||||||
| chr5:36925454
|
C | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-28164C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925454 | ||||||
| chr5:36925544
|
G | A | 70 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.-79-28074G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925544 | ||||||
| chr5:36925633
|
C | T | 211 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(208): Show | 213 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.-79-27985C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925633 | ||||||
| chr5:36925675
|
A | C | 1 | a0001c0002t0001g0307 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.-79-27943A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925675 | ||||||
| chr5:36925711
|
A | G | 2 | a0001c0001t0001g0206a0001c0001t0001g0235 | 2 | HG02015.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.-79-27907A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925711 | ||||||
| chr5:36925903
|
C | T | 70 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.-79-27715C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925903 | ||||||
| chr5:36925956
|
T | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-27662T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36925956 | ||||||
| chr5:36926199
|
G | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-27419G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926199 | ||||||
| chr5:36926346
|
A | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-27272A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926346 | ||||||
| chr5:36926554
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-79-27064A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926554 | ||||||
| chr5:36926654
|
G | A | 66 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(63): Show | 68 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.-79-26964G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926654 | ||||||
| chr5:36926679
|
T | C | 1 | a0001c0001t0001g0183 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-79-26939T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926679 | ||||||
| chr5:36926876
|
A | G | 3 | a0002c0003t0001g0136a0002c0003t0001g0137a0002c0003t0001g0138 | 3 | HG01891.hp1 HG02486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-79-26742A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926876 | ||||||
| chr5:36926939
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-79-26679G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926939 | ||||||
| chr5:36926985
|
C | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-79-26633C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36926985 | ||||||
| chr5:36927042
|
A | G | 2 | a0001c0002t0001g0275a0001c0002t0001g0288 | 2 | HG02080.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-79-26576A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927042 | ||||||
| chr5:36927269
|
G | A | 1 | a0001c0001t0001g0022 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-79-26349G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927269 | ||||||
| chr5:36927528
|
G | C | 1 | a0001c0019t0001g0176 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-79-26090G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927528 | ||||||
| chr5:36927550
|
G | A | 16 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(13): Show | 16 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.-79-26068G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927550 | ||||||
| chr5:36927841
|
A | G | 4 | a0001c0002t0001g0289a0001c0002t0001g0290a0001c0002t0001g0292others(1): Show | 4 | HG03017.hp2 HG03669.hp1 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-25777A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927841 | ||||||
| chr5:36927968
|
C | T | 3 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312 | 3 | HG01884.hp1 HG02723.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.-79-25650C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36927968 | ||||||
| chr5:36928001
|
A | T | 7 | a0001c0001t0001g0216a0002c0003t0001g0166a0003c0005t0001g0105others(4): Show | 7 | HG01433.hp2 HG01891.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-79-25617A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36928001 | ||||||
| chr5:36928055
|
G | A | 1 | a0001c0001t0001g0079 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-79-25563G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36928055 | ||||||
| chr5:36928470
|
A | T | 48 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(45): Show | 50 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(47): Show |
intron_variant | MODIFIER | c.-79-25148A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36928470 | ||||||
| chr5:36928733
|
A | G | 1 | a0002c0003t0001g0116 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-79-24885A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36928733 | ||||||
| chr5:36928867
|
G | A | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.-79-24751G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36928867 | ||||||
| chr5:36929039
|
TGGGTC | T | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-24578_-79-2457 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929039 | ||||||
| chr5:36929045
|
A | T | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-24573A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929045 | ||||||
| chr5:36929047
|
A | T | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-24571A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929047 | ||||||
| chr5:36929049
|
G | A | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-24569G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929049 | ||||||
| chr5:36929051
|
T | C | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-24567T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929051 | ||||||
| chr5:36929157
|
A | G | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.-79-24461A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929157 | ||||||
| chr5:36929186
|
T | C | 3 | a0001c0004t0002g0200a0001c0004t0002g0201a0001c0004t0002g0205 | 3 | HG02895.hp1 HG02897.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-79-24432T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929186 | ||||||
| chr5:36929227
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-79-24391C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929227 | ||||||
| chr5:36929250
|
A | G | 4 | a0001c0001t0001g0178a0001c0001t0001g0180a0001c0001t0001g0181others(1): Show | 4 | HG02258.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-24368A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929250 | ||||||
| chr5:36929501
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-24117A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929501 | ||||||
| chr5:36929781
|
A | T | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-23837A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929781 | ||||||
| chr5:36929913
|
C | T | 1 | a0001c0002t0001g0283 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-79-23705C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929913 | ||||||
| chr5:36929937
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-79-23681C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36929937 | ||||||
| chr5:36930081
|
AAGTT | A | 6 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0161others(3): Show | 6 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-23534_-79-2353 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36930081 | |||||
| chr5:36930533
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-79-23085A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36930533 | ||||||
| chr5:36931098
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.-79-22520A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931098 | ||||||
| chr5:36931196
|
T | G | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-79-22422T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931196 | ||||||
| chr5:36931265
|
T | A | 7 | a0001c0001t0001g0018a0001c0006t0001g0320a0001c0006t0002g0316others(4): Show | 7 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.-79-22353T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931265 | ||||||
| chr5:36931538
|
G | A | 1 | a0001c0006t0001g0320 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-79-22080G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931538 | ||||||
| chr5:36931640
|
T | A | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-79-21978T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931640 | ||||||
| chr5:36931762
|
T | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-21856T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931762 | ||||||
| chr5:36931785
|
GT | G | 103 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(100): Show | 103 | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.-79-21819delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36931785 | |||||
| chr5:36931785
|
GTT | G | 190 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(187): Show | 192 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.-79-21820_-79-2181 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36931785 | |||||
| chr5:36931785
|
GTTT | G | 19 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(16): Show | 19 | HG01891.hp1 HG01891.hp2 HG02155.hp1 others(16): Show |
intron_variant | MODIFIER | c.-79-21821_-79-2181 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36931785 | |||||
| chr5:36931821
|
T | C | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-21797T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36931821 | ||||||
| chr5:36932282
|
A | C | 1 | a0001c0002t0001g0239 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-79-21336A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36932282 | ||||||
| chr5:36932653
|
T | A | 3 | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0236 | 3 | HG00558.hp1 NA18950.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-79-20965T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36932653 | ||||||
| chr5:36932778
|
G | GT | 45 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(42): Show | 45 | HG00423.hp2 HG00735.hp2 HG01192.hp1 others(42): Show |
intron_variant | MODIFIER | c.-79-20815dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36932778 | |||||
| chr5:36932778
|
G | GTT | 19 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(16): Show | 19 | HG01243.hp1 HG01952.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.-79-20816_-79-2081 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36932778 | |||||
| chr5:36932778
|
G | GTTT | 22 | a0001c0001t0001g0157a0001c0001t0001g0168a0002c0003t0001g0116others(19): Show | 22 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.-79-20817_-79-2081 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36932778 | |||||
| chr5:36932778
|
G | GTTTT | 11 | a0001c0001t0001g0325a0002c0003t0001g0137a0002c0003t0001g0159others(8): Show | 11 | HG01257.hp2 HG01884.hp1 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-20818_-79-2081 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36932778 | |||||
| chr5:36932778
|
GT | G | 71 | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0064others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(68): Show |
intron_variant | MODIFIER | c.-79-20815delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36932778 | |||||
| chr5:36932814
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-20804A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36932814 | ||||||
| chr5:36932931
|
G | T | 1 | a0001c0001t0001g0088 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.-79-20687G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36932931 | ||||||
| chr5:36932989
|
C | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-20629C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36932989 | ||||||
| chr5:36933075
|
A | G | 1 | a0001c0001t0001g0213 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-79-20543A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933075 | ||||||
| chr5:36933275
|
C | T | 2 | a0001c0001t0001g0058a0001c0001t0001g0059 | 2 | NA18960.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.-79-20343C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933275 | ||||||
| chr5:36933564
|
A | G | 1 | a0001c0002t0001g0275 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.-79-20054A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933564 | ||||||
| chr5:36933597
|
A | G | 1 | a0002c0003t0001g0118 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-79-20021A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933597 | ||||||
| chr5:36933710
|
G | A | 1 | a0001c0001t0001g0092 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-79-19908G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933710 | ||||||
| chr5:36933845
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-19773C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933845 | ||||||
| chr5:36933896
|
C | A | 1 | a0001c0002t0001g0245 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-79-19722C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36933896 | ||||||
| chr5:36933918
|
T | TG | 82 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(79): Show | 84 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.-79-19693dupG | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36933918 | |||||
| chr5:36934378
|
A | T | 1 | a0002c0003t0001g0134 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-79-19240A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36934378 | ||||||
| chr5:36934392
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-19226T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36934392 | ||||||
| chr5:36934736
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-18882C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36934736 | ||||||
| chr5:36934764
|
G | GAGGCCAT others(28): Show |
1 | a0001c0001t0001g0182 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-79-18850_-79-1881 others(39): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36934764 | |||||
| chr5:36934796
|
C | G | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-79-18822C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36934796 | ||||||
| chr5:36934842
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-79-18776A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36934842 | ||||||
| chr5:36935027
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.-79-18591A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36935027 | ||||||
| chr5:36935435
|
A | G | 1 | a0001c0001t0001g0190 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-79-18183A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36935435 | ||||||
| chr5:36935558
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-79-18060G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36935558 | ||||||
| chr5:36935662
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-17956A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36935662 | ||||||
| chr5:36935877
|
A | G | 11 | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0049others(8): Show | 11 | HG02071.hp2 HG02165.hp1 NA18968.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-17741A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36935877 | ||||||
| chr5:36936046
|
T | A | 1 | a0001c0002t0001g0255 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-79-17572T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36936046 | ||||||
| chr5:36936533
|
G | A | 1 | a0001c0001t0001g0156 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-79-17085G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36936533 | ||||||
| chr5:36936833
|
A | G | 1 | a0002c0003t0001g0164 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-79-16785A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36936833 | ||||||
| chr5:36937018
|
A | G | 40 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(37): Show | 40 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.-79-16600A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937018 | ||||||
| chr5:36937070
|
A | T | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-16548A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937070 | ||||||
| chr5:36937102
|
A | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-79-16516A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937102 | ||||||
| chr5:36937597
|
T | G | 1 | a0001c0002t0001g0284 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-79-16021T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937597 | ||||||
| chr5:36937682
|
C | T | 3 | a0001c0002t0001g0246a0001c0002t0001g0299a0001c0002t0001g0300 | 3 | HG00099.hp1 HG00735.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-79-15936C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937682 | ||||||
| chr5:36937732
|
C | T | 2 | a0001c0001t0001g0187a0001c0001t0001g0189 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-79-15886C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937732 | ||||||
| chr5:36937939
|
T | C | 42 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(39): Show | 44 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.-79-15679T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36937939 | ||||||
| chr5:36938120
|
C | T | 1 | a0001c0002t0001g0246 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-79-15498C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938120 | ||||||
| chr5:36938181
|
A | G | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.-79-15437A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938181 | ||||||
| chr5:36938244
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-15374T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938244 | ||||||
| chr5:36938254
|
C | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-15364C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938254 | ||||||
| chr5:36938260
|
C | T | 1 | a0001c0001t0001g0147 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-79-15358C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938260 | ||||||
| chr5:36938328
|
C | CCA | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-15274_-79-1527 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36938328 | |||||
| chr5:36938458
|
A | C | 1 | a0001c0001t0001g0009 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-79-15160A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938458 | ||||||
| chr5:36938682
|
A | T | 80 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(77): Show | 82 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(79): Show |
intron_variant | MODIFIER | c.-79-14936A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938682 | ||||||
| chr5:36938875
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-14743T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36938875 | ||||||
| chr5:36939027
|
GGGTCTTG others(4): Show |
G | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-14589_-79-1457 others(15): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36939027 | |||||
| chr5:36939131
|
T | C | 3 | a0002c0003t0001g0159a0002c0003t0001g0162a0002c0003t0001g0164 | 3 | HG01993.hp2 HG02004.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.-79-14487T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939131 | ||||||
| chr5:36939200
|
G | A | 1 | a0001c0002t0001g0249 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-79-14418G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939200 | ||||||
| chr5:36939223
|
G | A | 2 | a0002c0003t0001g0127a0002c0003t0001g0131 | 2 | NA18968.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.-79-14395G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939223 | ||||||
| chr5:36939508
|
G | A | 6 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0161others(3): Show | 6 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-14110G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939508 | ||||||
| chr5:36939524
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-79-14094G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939524 | ||||||
| chr5:36939554
|
T | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-14064T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939554 | ||||||
| chr5:36939571
|
G | T | 1 | a0001c0001t0001g0191 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-79-14047G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939571 | ||||||
| chr5:36939662
|
T | C | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-79-13956T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36939662 | ||||||
| chr5:36940000
|
G | A | 1 | a0001c0002t0001g0299 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-79-13618G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36940000 | ||||||
| chr5:36940003
|
T | C | 1 | a0001c0002t0001g0245 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-79-13615T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36940003 | ||||||
| chr5:36940248
|
T | G | 2 | a0001c0001t0001g0042a0001c0001t0001g0052 | 2 | HG00408.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.-79-13370T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36940248 | ||||||
| chr5:36941085
|
A | C | 6 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0161others(3): Show | 6 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-12533A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941085 | ||||||
| chr5:36941153
|
A | G | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-12465A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941153 | ||||||
| chr5:36941170
|
AAG | A | 3 | a0002c0003t0001g0136a0002c0003t0001g0137a0002c0003t0001g0138 | 3 | HG01891.hp1 HG02486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-79-12442_-79-1244 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36941170 | |||||
| chr5:36941341
|
A | C | 2 | a0001c0001t0001g0009a0001c0001t0001g0113 | 2 | HG02109.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.-79-12277A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941341 | ||||||
| chr5:36941359
|
T | G | 1 | a0001c0002t0001g0293 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.-79-12259T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941359 | ||||||
| chr5:36941427
|
T | C | 5 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(2): Show | 5 | HG02165.hp1 NA18978.hp2 NA19060.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-12191T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941427 | ||||||
| chr5:36941446
|
A | G | 71 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.-79-12172A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941446 | ||||||
| chr5:36941456
|
A | C | 225 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.-79-12162A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941456 | ||||||
| chr5:36941512
|
C | CA | 12 | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0062others(9): Show | 12 | HG00621.hp1 HG00621.hp2 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.-79-12090dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36941512 | |||||
| chr5:36941563
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-12055A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941563 | ||||||
| chr5:36941665
|
T | C | 225 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.-79-11953T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941665 | ||||||
| chr5:36941806
|
T | A | 3 | a0001c0004t0002g0200a0001c0004t0002g0201a0001c0004t0002g0205 | 3 | HG02895.hp1 HG02897.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-79-11812T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941806 | ||||||
| chr5:36941817
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-79-11801A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36941817 | ||||||
| chr5:36942299
|
G | A | 1 | a0001c0004t0001g0173 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-79-11319G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942299 | ||||||
| chr5:36942387
|
G | A | 1 | a0001c0006t0001g0320 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-79-11231G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942387 | ||||||
| chr5:36942432
|
T | TA | 85 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0023others(82): Show | 85 | HG00544.hp2 HG00621.hp2 HG00642.hp1 others(82): Show |
intron_variant | MODIFIER | c.-79-11161dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942432
|
T | TAA | 26 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0048others(23): Show | 26 | HG00323.hp1 HG00673.hp2 HG01109.hp2 others(23): Show |
intron_variant | MODIFIER | c.-79-11162_-79-1116 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942432
|
T | TAAA | 53 | a0001c0001t0001g0008a0001c0001t0001g0155a0001c0001t0001g0156others(50): Show | 53 | HG00140.hp2 HG00408.hp1 HG01074.hp1 others(50): Show |
intron_variant | MODIFIER | c.-79-11163_-79-1116 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942432
|
T | TAAAA | 29 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0324others(26): Show | 29 | HG00099.hp1 HG00423.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.-79-11164_-79-1116 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942432
|
TA | T | 8 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0028others(5): Show | 8 | HG01071.hp1 HG01433.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.-79-11161delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942432
|
TAAAAAAA others(5): Show |
T | 2 | a0001c0001t0001g0273a0001c0002t0001g0251 | 2 | NA18975.hp1 NA19054.hp2 |
intron_variant | MODIFIER | c.-79-11172_-79-1116 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942432 | |||||
| chr5:36942529
|
C | T | 1 | a0001c0001t0001g0050 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-79-11089C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942529 | ||||||
| chr5:36942689
|
C | A | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.-79-10929C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942689 | ||||||
| chr5:36942734
|
C | CA | 20 | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | 20 | HG00099.hp2 HG01109.hp2 HG02015.hp2 others(17): Show |
intron_variant | MODIFIER | c.-79-10867dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36942734 | |||||
| chr5:36942804
|
A | G | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.-79-10814A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942804 | ||||||
| chr5:36942876
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-79-10742G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942876 | ||||||
| chr5:36942887
|
A | T | 1 | a0001c0001t0001g0011 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-79-10731A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942887 | ||||||
| chr5:36942996
|
A | T | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-79-10622A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36942996 | ||||||
| chr5:36943166
|
G | A | 69 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.-79-10452G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943166 | ||||||
| chr5:36943401
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-79-10217T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943401 | ||||||
| chr5:36943414
|
ATTGT | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-79-10199_-79-1019 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36943414 | |||||
| chr5:36943503
|
T | C | 1 | a0001c0002t0001g0249 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-79-10115T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943503 | ||||||
| chr5:36943538
|
A | G | 3 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216 | 3 | HG00733.hp2 HG01433.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.-79-10080A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943538 | ||||||
| chr5:36943629
|
G | A | 16 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(13): Show | 16 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.-79-9989G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943629 | ||||||
| chr5:36943650
|
A | T | 1 | a0001c0002t0001g0288 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-79-9968A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943650 | ||||||
| chr5:36943878
|
T | C | 2 | a0002c0003t0001g0161a0002c0003t0001g0166 | 2 | HG02698.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.-79-9740T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36943878 | ||||||
| chr5:36944089
|
GGA | G | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-9522_-79-9521d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36944089 | |||||
| chr5:36944231
|
AGAG | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-9383_-79-9381d others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36944231 | |||||
| chr5:36944323
|
C | T | 1 | a0001c0002t0001g0290 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-79-9295C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36944323 | ||||||
| chr5:36944346
|
C | T | 9 | a0001c0002t0001g0242a0001c0002t0001g0243a0001c0002t0001g0250others(6): Show | 9 | NA18960.hp1 NA18983.hp2 NA18990.hp2 others(6): Show |
intron_variant | MODIFIER | c.-79-9272C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36944346 | ||||||
| chr5:36944428
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-9190T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36944428 | ||||||
| chr5:36944431
|
G | A | 2 | a0001c0001t0001g0324a0001c0001t0001g0325 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-79-9187G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36944431 | ||||||
| chr5:36944455
|
A | G | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-9163A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36944455 | ||||||
| chr5:36944738
|
T | TA | 7 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(4): Show | 7 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.-79-8870dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36944738 | |||||
| chr5:36945034
|
G | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-8584G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36945034 | ||||||
| chr5:36945108
|
T | C | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-8510T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36945108 | ||||||
| chr5:36945123
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-79-8495A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36945123 | ||||||
| chr5:36945432
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-8186C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36945432 | ||||||
| chr5:36945508
|
CCTT | C | 23 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(20): Show | 25 | HG00544.hp2 HG00639.hp2 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.-79-8107_-79-8105d others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36945508 | |||||
| chr5:36945782
|
G | T | 1 | a0001c0002t0001g0115 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-79-7836G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36945782 | ||||||
| chr5:36946421
|
G | A | 3 | a0001c0004t0002g0200a0001c0004t0002g0201a0001c0004t0002g0205 | 3 | HG02895.hp1 HG02897.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-79-7197G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36946421 | ||||||
| chr5:36946543
|
A | AGT | 3 | a0001c0001t0001g0028a0001c0001t0001g0029a0002c0003t0001g0117 | 3 | NA18939.hp1 NA18986.hp1 NA19055.hp2 |
intron_variant | MODIFIER | c.-79-7062_-79-7061d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36946543 | |||||
| chr5:36946556
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-7062G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36946556 | ||||||
| chr5:36946574
|
C | CTG | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-7034_-79-7033d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36946574 | |||||
| chr5:36946578
|
G | GTGTGTGT others(3): Show |
17 | a0001c0002t0001g0242a0001c0002t0001g0243a0001c0002t0001g0250others(14): Show | 17 | HG01257.hp2 HG02027.hp2 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.-79-7036_-79-7027d others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36946578 | |||||
| chr5:36946578
|
G | GTGTGTGT others(5): Show |
188 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(185): Show | 190 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(187): Show |
intron_variant | MODIFIER | c.-79-7033_-79-7032i others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36946578 | |||||
| chr5:36946667
|
G | A | 2 | a0001c0001t0001g0075a0001c0001t0001g0076 | 2 | NA18953.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.-79-6951G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36946667 | ||||||
| chr5:36946974
|
A | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-6644A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36946974 | ||||||
| chr5:36946992
|
C | G | 1 | a0002c0003t0001g0291 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-79-6626C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36946992 | ||||||
| chr5:36947485
|
T | C | 1 | a0002c0003t0001g0127 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-79-6133T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36947485 | ||||||
| chr5:36947511
|
A | G | 70 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.-79-6107A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36947511 | ||||||
| chr5:36947840
|
G | T | 1 | a0001c0001t0001g0230 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-79-5778G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36947840 | ||||||
| chr5:36948094
|
T | C | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-5524T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36948094 | ||||||
| chr5:36948189
|
C | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-79-5429C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36948189 | ||||||
| chr5:36948260
|
C | G | 227 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(224): Show | 229 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.-79-5358C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36948260 | ||||||
| chr5:36948364
|
A | G | 16 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(13): Show | 16 | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.-79-5254A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36948364 | ||||||
| chr5:36948943
|
T | C | 4 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312others(1): Show | 4 | HG01884.hp1 HG02572.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-4675T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36948943 | ||||||
| chr5:36949144
|
C | G | 2 | a0001c0001t0001g0324a0001c0001t0001g0325 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-79-4474C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36949144 | ||||||
| chr5:36949468
|
G | C | 1 | a0001c0002t0001g0282 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.-79-4150G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36949468 | ||||||
| chr5:36949554
|
T | C | 1 | a0001c0001t0001g0022 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-79-4064T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36949554 | ||||||
| chr5:36949716
|
C | G | 6 | a0001c0001t0001g0211a0001c0001t0001g0214a0001c0001t0001g0215others(3): Show | 6 | HG00544.hp2 HG00733.hp2 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-3902C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36949716 | ||||||
| chr5:36949857
|
T | C | 1 | a0002c0003t0001g0162 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-79-3761T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36949857 | ||||||
| chr5:36950033
|
A | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-3585A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950033 | ||||||
| chr5:36950112
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-79-3506C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950112 | ||||||
| chr5:36950157
|
A | G | 74 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0273others(71): Show | 74 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.-79-3461A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950157 | ||||||
| chr5:36950216
|
A | G | 6 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(3): Show | 8 | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.-79-3402A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950216 | ||||||
| chr5:36950412
|
A | T | 3 | a0001c0002t0001g0302a0001c0002t0001g0303a0001c0002t0001g0304 | 3 | HG01255.hp1 HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.-79-3206A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950412 | ||||||
| chr5:36950445
|
C | T | 1 | a0002c0003t0001g0127 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-79-3173C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950445 | ||||||
| chr5:36950546
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-79-3072T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950546 | ||||||
| chr5:36950571
|
A | G | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-79-3047A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950571 | ||||||
| chr5:36950910
|
T | TG | 38 | a0002c0003t0001g0116a0002c0003t0001g0118a0002c0003t0001g0119others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-2708_-79-2707i others(3): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950910 | ||||||
| chr5:36950930
|
A | C | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-79-2688A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36950930 | ||||||
| chr5:36951219
|
C | G | 64 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 66 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.-79-2399C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951219 | ||||||
| chr5:36951292
|
G | C | 1 | a0001c0002t0001g0114 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-79-2326G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951292 | ||||||
| chr5:36951334
|
G | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-2284G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951334 | ||||||
| chr5:36951594
|
A | G | 1 | a0001c0002t0001g0274 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-79-2024A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951594 | ||||||
| chr5:36951728
|
A | T | 1 | a0001c0001t0001g0012 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-79-1890A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951728 | ||||||
| chr5:36951733
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-79-1885T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951733 | ||||||
| chr5:36951826
|
C | T | 1 | a0003c0005t0001g0108 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-79-1792C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951826 | ||||||
| chr5:36951948
|
C | G | 53 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(50): Show | 55 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.-79-1670C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951948 | ||||||
| chr5:36951981
|
A | G | 37 | a0002c0003t0001g0116a0002c0003t0001g0118a0002c0003t0001g0119others(34): Show | 37 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.-79-1637A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36951981 | ||||||
| chr5:36952018
|
C | CTG | 12 | a0001c0001t0001g0143a0001c0001t0001g0148a0001c0001t0001g0151others(9): Show | 12 | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.-79-1565_-79-1564d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTG | 21 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0019others(18): Show | 21 | HG01516.hp2 HG01517.hp1 HG02015.hp1 others(18): Show |
intron_variant | MODIFIER | c.-79-1567_-79-1564d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTG | 8 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0093others(5): Show | 8 | HG01257.hp2 HG01884.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-79-1569_-79-1564d others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(1): Show |
12 | a0001c0001t0001g0009a0001c0001t0001g0179a0001c0001t0001g0184others(9): Show | 12 | HG02809.hp1 HG02818.hp1 HG02886.hp1 others(9): Show |
intron_variant | MODIFIER | c.-79-1571_-79-1564d others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(3): Show |
17 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0182others(14): Show | 17 | HG01261.hp2 HG01891.hp2 HG01975.hp1 others(14): Show |
intron_variant | MODIFIER | c.-79-1573_-79-1564d others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(5): Show |
12 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0189others(9): Show | 12 | HG01109.hp2 HG02257.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.-79-1575_-79-1564d others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(7): Show |
9 | a0001c0001t0001g0111a0001c0002t0001g0255a0001c0002t0001g0256others(6): Show | 9 | HG00323.hp1 HG00621.hp1 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.-79-1577_-79-1564d others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(9): Show |
4 | a0001c0002t0001g0281a0002c0003t0001g0117a0002c0003t0001g0131others(1): Show | 4 | NA19001.hp1 NA19055.hp2 NA19087.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-1579_-79-1564d others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
C | CTGTGTGT others(15): Show |
1 | a0001c0001t0001g0112 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-79-1585_-79-1564d others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952018
|
CTGTGTGT others(3): Show |
C | 2 | a0001c0001t0001g0058a0001c0001t0001g0059 | 2 | NA18960.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.-79-1573_-79-1564d others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952018 | |||||
| chr5:36952047
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-79-1571T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952047 | ||||||
| chr5:36952048
|
GTGTGTGC others(19): Show |
G | 1 | a0002c0003t0001g0130 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-79-1563_-79-1538d others(28): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952048 | |||||
| chr5:36952049
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-79-1569T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952049 | ||||||
| chr5:36952049
|
T | TGC | 3 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0076 | 3 | NA18953.hp2 NA19054.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.-79-1568_-79-1567i others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952049 | |||||
| chr5:36952051
|
T | C | 10 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0066others(7): Show | 10 | HG00621.hp2 HG02155.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.-79-1567T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952051 | ||||||
| chr5:36952051
|
T | TGC | 3 | a0001c0001t0001g0012a0001c0001t0001g0069a0001c0001t0001g0092 | 3 | HG03017.hp1 NA18951.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.-79-1566_-79-1565i others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952051 | |||||
| chr5:36952051
|
T | TGCGC | 8 | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0057others(5): Show | 8 | HG02683.hp2 HG03098.hp2 NA18955.hp1 others(5): Show |
intron_variant | MODIFIER | c.-79-1566_-79-1565i others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952051 | |||||
| chr5:36952052
|
GTGCGCGC others(15): Show |
G | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-79-1563_-79-1542d others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952052 | |||||
| chr5:36952053
|
T | C | 21 | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0026others(18): Show | 21 | HG00621.hp2 HG02155.hp2 HG02280.hp1 others(18): Show |
intron_variant | MODIFIER | c.-79-1565T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952053 | ||||||
| chr5:36952053
|
T | TGC | 3 | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0091 | 3 | HG02647.hp1 HG02723.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-79-1546_-79-1545d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGCGC | 3 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0326 | 3 | HG01192.hp1 NA19088.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.-79-1548_-79-1545d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGCGCGC | 6 | a0001c0001t0001g0018a0001c0001t0001g0039a0001c0001t0001g0067others(3): Show | 6 | HG00673.hp1 HG01433.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-1550_-79-1545d others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGC | 4 | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0065others(1): Show | 4 | HG01074.hp2 HG01952.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGCGC | 3 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0054 | 3 | HG04228.hp1 NA18946.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGC | 5 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0088others(2): Show | 5 | HG00733.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGCG others(1): Show |
12 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0079others(9): Show | 12 | HG01071.hp1 HG01099.hp1 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGCG others(3): Show |
7 | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0046others(4): Show | 7 | HG00735.hp1 HG02083.hp2 HG02300.hp2 others(4): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGCG others(5): Show |
1 | a0001c0002t0001g0292 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(1): Show |
7 | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0089others(4): Show | 7 | HG00558.hp2 HG01167.hp2 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(3): Show |
11 | a0001c0001t0001g0011a0001c0001t0001g0030a0001c0001t0001g0047others(8): Show | 11 | HG00408.hp2 HG02165.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(5): Show |
4 | a0001c0001t0001g0016a0001c0001t0001g0060a0001c0001t0001g0157others(1): Show | 4 | HG00544.hp1 HG01123.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(7): Show |
1 | a0002c0003t0001g0291 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(41): Show |
1 | a0001c0001t0001g0042 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(50): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(3): Show |
8 | a0001c0001t0001g0140a0001c0002t0001g0115a0001c0002t0001g0251others(5): Show | 8 | HG00408.hp1 HG01361.hp2 HG01993.hp2 others(5): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(5): Show |
8 | a0001c0001t0001g0024a0001c0001t0001g0072a0001c0001t0001g0082others(5): Show | 8 | HG01099.hp2 HG01261.hp1 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(7): Show |
6 | a0001c0001t0001g0021a0001c0001t0001g0099a0001c0002t0001g0263others(3): Show | 6 | HG01175.hp2 HG01243.hp2 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(9): Show |
2 | a0001c0002t0001g0268a0002c0003t0001g0161 | 2 | HG02074.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(13): Show |
1 | a0001c0020t0001g0267 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(4): Show |
1 | a0001c0001t0001g0175 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(13): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(5): Show |
2 | a0001c0002t0001g0295a0001c0002t0001g0305 | 2 | NA18987.hp1 NA19078.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(7): Show |
6 | a0001c0001t0001g0013a0001c0001t0001g0063a0001c0001t0001g0155others(3): Show | 6 | HG02027.hp2 HG02132.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(9): Show |
2 | a0001c0001t0001g0055a0001c0001t0001g0064 | 2 | HG00140.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(11): Show |
1 | a0002c0003t0001g0128 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(15): Show |
1 | a0001c0002t0001g0277 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(7): Show |
3 | a0001c0002t0001g0274a0001c0002t0001g0286a0002c0003t0001g0122 | 3 | HG00140.hp2 HG02083.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(9): Show |
8 | a0001c0002t0001g0243a0001c0002t0001g0247a0001c0002t0001g0258others(5): Show | 8 | HG00423.hp1 HG01891.hp1 HG03831.hp2 others(5): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(11): Show |
5 | a0001c0001t0001g0056a0001c0002t0001g0242a0001c0002t0001g0271others(2): Show | 5 | HG00639.hp1 HG01109.hp1 HG02293.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(13): Show |
1 | a0001c0002t0001g0262 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(17): Show |
1 | a0001c0002t0001g0260 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(9): Show |
8 | a0001c0001t0001g0053a0001c0001t0001g0153a0001c0002t0001g0266others(5): Show | 8 | HG00099.hp2 HG01192.hp2 HG02004.hp1 others(5): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(11): Show |
4 | a0001c0001t0001g0044a0001c0002t0001g0250a0001c0002t0001g0301others(1): Show | 4 | HG02071.hp1 HG02165.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(13): Show |
1 | a0002c0003t0001g0311 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(15): Show |
1 | a0002c0003t0001g0120 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(11): Show |
2 | a0001c0002t0001g0245a0001c0002t0001g0283 | 2 | HG02523.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(13): Show |
3 | a0002c0003t0001g0138a0002c0003t0001g0163a0002c0003t0001g0244 | 3 | HG00642.hp1 HG01517.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(15): Show |
1 | a0002c0003t0001g0310 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(17): Show |
1 | a0002c0003t0003g0165 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(15): Show |
1 | a0001c0001t0001g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(17): Show |
2 | a0002c0003t0001g0123a0002c0003t0001g0313 | 2 | HG02572.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.-79-1564_-79-1563i others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(19): Show |
1 | a0002c0003t0001g0121 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(28): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(19): Show |
1 | a0002c0003t0001g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(28): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
T | TGTGTGTG others(23): Show |
1 | a0002c0003t0001g0125 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.-79-1564_-79-1563i others(32): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
TGC | T | 26 | a0001c0001t0001g0147a0001c0001t0001g0149a0001c0001t0001g0150others(23): Show | 26 | HG00423.hp2 HG00558.hp1 HG00733.hp2 others(23): Show |
intron_variant | MODIFIER | c.-79-1546_-79-1545d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952053
|
TGCGC | T | 3 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0211 | 3 | HG01346.hp2 HG02922.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-79-1548_-79-1545d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr5 | 36952053 | |||||
| chr5:36952054
|
GCGCGCGC others(13): Show |
G | 2 | a0001c0001t0001g0051a0002c0003t0003g0240 | 2 | HG03492.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.-79-1563_-79-1544d others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952054 | ||||||
| chr5:36952055
|
C | T | 84 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(81): Show | 86 | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.-79-1563C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952055 | ||||||
| chr5:36952057
|
C | A | 1 | a0001c0002t0001g0277 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-79-1561C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952057 | ||||||
| chr5:36952057
|
C | T | 76 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(73): Show | 78 | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(75): Show |
intron_variant | MODIFIER | c.-79-1561C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952057 | ||||||
| chr5:36952059
|
C | T | 53 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(50): Show | 53 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.-79-1559C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952059 | ||||||
| chr5:36952061
|
C | T | 6 | a0001c0002t0001g0248a0001c0002t0001g0249a0001c0002t0001g0295others(3): Show | 6 | HG01884.hp2 HG02145.hp1 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-1557C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952061 | ||||||
| chr5:36952063
|
C | T | 10 | a0001c0001t0001g0103a0001c0001t0001g0171a0001c0002t0001g0248others(7): Show | 10 | HG00738.hp1 HG01884.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.-79-1555C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952063 | ||||||
| chr5:36952064
|
G | A | 1 | a0002c0003t0001g0121 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.-79-1554G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952064 | ||||||
| chr5:36952068
|
G | A | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(4): Show | 7 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.-79-1550G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952068 | ||||||
| chr5:36952082
|
G | C | 2 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-79-1536G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952082 | ||||||
| chr5:36952087
|
G | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.-79-1531G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952087 | ||||||
| chr5:36952162
|
T | G | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-1456T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952162 | ||||||
| chr5:36952172
|
G | A | 2 | a0001c0001t0001g0009a0001c0001t0001g0113 | 2 | HG02109.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.-79-1446G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952172 | ||||||
| chr5:36952184
|
G | A | 5 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0053others(2): Show | 5 | HG00099.hp2 HG00323.hp1 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.-79-1434G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952184 | ||||||
| chr5:36952364
|
T | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-79-1254T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952364 | ||||||
| chr5:36952419
|
G | A | 1 | a0002c0003t0001g0127 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-79-1199G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952419 | ||||||
| chr5:36952469
|
T | A | 1 | a0002c0003t0001g0161 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-79-1149T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952469 | ||||||
| chr5:36952474
|
C | T | 73 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(70): Show | 73 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.-79-1144C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952474 | ||||||
| chr5:36952510
|
G | T | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-1108G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952510 | ||||||
| chr5:36952588
|
T | G | 38 | a0002c0003t0001g0116a0002c0003t0001g0118a0002c0003t0001g0119others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.-79-1030T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952588 | ||||||
| chr5:36952648
|
G | A | 1 | a0001c0001t0001g0010 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-79-970G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952648 | ||||||
| chr5:36952744
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-79-874C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952744 | ||||||
| chr5:36952978
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-79-640C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36952978 | ||||||
| chr5:36953096
|
G | A | 4 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0053others(1): Show | 4 | HG00099.hp2 HG02683.hp1 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.-79-522G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36953096 | ||||||
| chr5:36953471
|
A | G | 1 | a0001c0001t0001g0324 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-79-147A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 1/46 | chr5 | 36953471 | ||||||
| chr5:36954445
|
A | G | 1 | a0001c0001t0001g0188 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.64+685A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954445 | ||||||
| chr5:36954455
|
G | C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.64+695G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954455 | ||||||
| chr5:36954461
|
A | G | 1 | a0001c0001t0001g0027 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.64+701A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954461 | ||||||
| chr5:36954535
|
TTTTATTA others(15): Show |
T | 1 | a0002c0003t0001g0129 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.64+777_64+798delTT others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr5 | 36954535 | |||||
| chr5:36954710
|
G | A | 218 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(215): Show | 220 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
intron_variant | MODIFIER | c.65-762G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954710 | ||||||
| chr5:36954864
|
C | T | 1 | a0002c0003t0001g0131 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.65-608C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954864 | ||||||
| chr5:36954932
|
G | T | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.65-540G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954932 | ||||||
| chr5:36954941
|
G | A | 1 | a0002c0003t0001g0291 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.65-531G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954941 | ||||||
| chr5:36954973
|
C | T | 1 | a0001c0002t0001g0278 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.65-499C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36954973 | ||||||
| chr5:36955026
|
G | A | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.65-446G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955026 | ||||||
| chr5:36955028
|
A | G | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.65-444A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955028 | ||||||
| chr5:36955050
|
C | T | 2 | a0001c0001t0001g0082a0001c0001t0001g0083 | 2 | NA19074.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.65-422C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955050 | ||||||
| chr5:36955103
|
G | A | 11 | a0001c0004t0002g0194a0001c0004t0002g0195a0001c0004t0002g0196others(8): Show | 11 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.65-369G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955103 | ||||||
| chr5:36955142
|
T | A | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.65-330T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955142 | ||||||
| chr5:36955158
|
C | T | 1 | a0001c0001t0001g0073 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.65-314C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955158 | ||||||
| chr5:36955452
|
T | G | 1 | a0001c0001t0001g0080 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.65-20T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955452 | ||||||
| chr5:36955455
|
G | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.65-17G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 2/46 | chr5 | 36955455 | ||||||
| chr5:36955832
|
A | T | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.230+195A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36955832 | ||||||
| chr5:36955957
|
T | C | 232 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(229): Show | 234 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.230+320T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36955957 | ||||||
| chr5:36956053
|
C | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.230+416C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956053 | ||||||
| chr5:36956065
|
C | A | 1 | a0001c0002t0001g0250 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.230+428C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956065 | ||||||
| chr5:36956065
|
C | CA | 25 | a0001c0001t0001g0009a0001c0001t0001g0079a0001c0001t0001g0084others(22): Show | 25 | HG00621.hp2 HG01192.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.230+444dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36956065 | |||||
| chr5:36956179
|
C | T | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.230+542C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956179 | ||||||
| chr5:36956233
|
A | G | 7 | a0001c0002t0001g0245a0001c0002t0001g0257a0001c0002t0001g0281others(4): Show | 7 | NA18946.hp1 NA18947.hp2 NA18961.hp1 others(4): Show |
intron_variant | MODIFIER | c.230+596A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956233 | ||||||
| chr5:36956450
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.230+813G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956450 | ||||||
| chr5:36956616
|
C | CT | 33 | a0001c0001t0001g0020a0001c0001t0001g0044a0001c0001t0001g0048others(30): Show | 33 | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.230+1005dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36956616 | |||||
| chr5:36956616
|
C | CTTTT | 6 | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0158others(3): Show | 6 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.230+1002_230+1005d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36956616 | |||||
| chr5:36956616
|
CT | C | 89 | a0001c0001t0001g0006a0001c0001t0001g0081a0001c0001t0001g0187others(86): Show | 89 | HG00099.hp1 HG00621.hp1 HG00673.hp2 others(86): Show |
intron_variant | MODIFIER | c.230+1005delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36956616 | |||||
| chr5:36956641
|
T | G | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.230+1004T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956641 | ||||||
| chr5:36956966
|
T | G | 1 | a0001c0002t0001g0292 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.231-1138T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36956966 | ||||||
| chr5:36957152
|
T | G | 1 | a0010c0013t0001g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.231-952T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957152 | ||||||
| chr5:36957622
|
C | T | 1 | a0001c0001t0001g0188 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.231-482C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957622 | ||||||
| chr5:36957726
|
T | G | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-378T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957726 | ||||||
| chr5:36957757
|
C | T | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-347C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957757 | ||||||
| chr5:36957758
|
A | G | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-346A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957758 | ||||||
| chr5:36957759
|
G | A | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-345G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957759 | ||||||
| chr5:36957761
|
C | T | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-343C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957761 | ||||||
| chr5:36957763
|
ATC | A | 4 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.231-339_231-338del others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36957763 | |||||
| chr5:36957781
|
G | C | 1 | a0002c0003t0001g0138 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.231-323G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957781 | ||||||
| chr5:36957955
|
C | T | 5 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(2): Show | 5 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.231-149C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36957955 | ||||||
| chr5:36957983
|
CA | C | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(7): Show | 10 | HG01361.hp1 HG02055.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.231-103delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36957983 | |||||
| chr5:36957983
|
CAA | C | 211 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(208): Show | 213 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.231-104_231-103del others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36957983 | |||||
| chr5:36957983
|
CAAA | C | 8 | a0001c0001t0001g0182a0001c0002t0001g0264a0001c0006t0001g0320others(5): Show | 8 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.231-105_231-103del others(3): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr5 | 36957983 | |||||
| chr5:36958023
|
G | A | 1 | a0002c0003t0001g0132 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.231-81G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 3/46 | chr5 | 36958023 | ||||||
| chr5:36958258
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.358+27A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36958258 | ||||||
| chr5:36958496
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.358+265A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36958496 | ||||||
| chr5:36958709
|
T | C | 4 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.358+478T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36958709 | ||||||
| chr5:36958879
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.358+648A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36958879 | ||||||
| chr5:36959002
|
T | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.358+771T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36959002 | ||||||
| chr5:36959119
|
A | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.358+888A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36959119 | ||||||
| chr5:36959424
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.358+1193G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36959424 | ||||||
| chr5:36959681
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.358+1450T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36959681 | ||||||
| chr5:36960085
|
A | G | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.359-1399A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36960085 | ||||||
| chr5:36960293
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.359-1191G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36960293 | ||||||
| chr5:36960684
|
A | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.359-800A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36960684 | ||||||
| chr5:36960788
|
C | G | 2 | a0001c0001t0001g0206a0001c0001t0001g0235 | 2 | HG02015.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.359-696C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36960788 | ||||||
| chr5:36960917
|
A | G | 41 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.359-567A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36960917 | ||||||
| chr5:36961018
|
A | G | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.359-466A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36961018 | ||||||
| chr5:36961022
|
T | C | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.359-462T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36961022 | ||||||
| chr5:36961203
|
A | G | 1 | a0001c0001t0001g0234 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.359-281A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 4/46 | chr5 | 36961203 | ||||||
| chr5:36962376
|
A | G | 2 | a0001c0001t0001g0031a0001c0001t0001g0060 | 2 | HG00323.hp2 HG01123.hp1 |
intron_variant | MODIFIER | c.610+102A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36962376 | ||||||
| chr5:36962748
|
C | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.610+474C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36962748 | ||||||
| chr5:36962922
|
G | A | 1 | a0001c0001t0001g0170 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.610+648G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36962922 | ||||||
| chr5:36963016
|
G | C | 1 | a0001c0002t0001g0266 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.610+742G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963016 | ||||||
| chr5:36963236
|
A | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.610+962A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963236 | ||||||
| chr5:36963672
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.610+1398T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963672 | ||||||
| chr5:36963703
|
G | T | 227 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(224): Show | 229 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.610+1429G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963703 | ||||||
| chr5:36963889
|
A | G | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.610+1615A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963889 | ||||||
| chr5:36963980
|
T | A | 1 | a0002c0003t0001g0166 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.610+1706T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36963980 | ||||||
| chr5:36964126
|
G | A | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG00639.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.610+1852G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964126 | ||||||
| chr5:36964190
|
A | G | 1 | a0001c0001t0001g0042 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.610+1916A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964190 | ||||||
| chr5:36964194
|
T | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.610+1920T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964194 | ||||||
| chr5:36964199
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.610+1925A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964199 | ||||||
| chr5:36964482
|
A | G | 6 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(3): Show | 8 | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.610+2208A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964482 | ||||||
| chr5:36964494
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.610+2220A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964494 | ||||||
| chr5:36964687
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.610+2413G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964687 | ||||||
| chr5:36964695
|
A | G | 1 | a0001c0004t0002g0199 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.610+2421A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964695 | ||||||
| chr5:36964747
|
A | G | 1 | a0001c0001t0001g0025 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.610+2473A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36964747 | ||||||
| chr5:36965305
|
A | C | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.610+3031A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36965305 | ||||||
| chr5:36965331
|
T | C | 84 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(81): Show | 86 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.610+3057T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36965331 | ||||||
| chr5:36965429
|
A | G | 84 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(81): Show | 86 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.610+3155A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36965429 | ||||||
| chr5:36966339
|
T | G | 1 | a0001c0001t0001g0075 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.610+4065T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36966339 | ||||||
| chr5:36966534
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.610+4260C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36966534 | ||||||
| chr5:36966976
|
A | G | 1 | a0008c0014t0002g0319 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.611-3900A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36966976 | ||||||
| chr5:36967070
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.611-3806T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967070 | ||||||
| chr5:36967192
|
T | C | 1 | a0001c0001t0001g0025 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.611-3684T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967192 | ||||||
| chr5:36967320
|
C | T | 70 | a0001c0001t0001g0273a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.611-3556C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967320 | ||||||
| chr5:36967576
|
A | G | 1 | a0001c0002t0001g0114 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.611-3300A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967576 | ||||||
| chr5:36967847
|
C | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-3029C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967847 | ||||||
| chr5:36967949
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-2927T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36967949 | ||||||
| chr5:36968095
|
C | CA | 55 | a0001c0001t0001g0023a0001c0001t0001g0034a0001c0001t0001g0039others(52): Show | 55 | HG00423.hp1 HG00621.hp1 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.611-2765dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36968095 | |||||
| chr5:36968095
|
C | CAA | 9 | a0001c0002t0001g0259a0001c0002t0001g0270a0001c0002t0001g0294others(6): Show | 9 | HG02027.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.611-2766_611-2765d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36968095 | |||||
| chr5:36968106
|
A | C | 1 | a0001c0001t0001g0213 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.611-2770A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968106 | ||||||
| chr5:36968107
|
A | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-2769A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968107 | ||||||
| chr5:36968110
|
AAC | A | 28 | a0002c0003t0001g0116a0002c0003t0001g0118a0002c0003t0001g0120others(25): Show | 28 | HG00673.hp2 HG01109.hp1 HG01257.hp2 others(25): Show |
intron_variant | MODIFIER | c.611-2764_611-2763d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36968110 | |||||
| chr5:36968111
|
A | C | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.611-2765A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968111 | ||||||
| chr5:36968111
|
AC | A | 56 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(53): Show | 56 | HG00323.hp1 HG00544.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.611-2764delC | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968111 | ||||||
| chr5:36968112
|
C | A | 128 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(125): Show | 130 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(127): Show |
intron_variant | MODIFIER | c.611-2764C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968112 | ||||||
| chr5:36968170
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.611-2706A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968170 | ||||||
| chr5:36968180
|
A | G | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.611-2696A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968180 | ||||||
| chr5:36968425
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-2451T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968425 | ||||||
| chr5:36968438
|
A | G | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.611-2438A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968438 | ||||||
| chr5:36968457
|
T | A | 1 | a0001c0001t0001g0216 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.611-2419T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968457 | ||||||
| chr5:36968548
|
G | A | 2 | a0002c0003t0003g0165a0002c0003t0003g0240 | 2 | HG03710.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.611-2328G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968548 | ||||||
| chr5:36968601
|
C | T | 1 | a0008c0014t0002g0319 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.611-2275C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968601 | ||||||
| chr5:36968920
|
T | G | 1 | a0001c0002t0001g0247 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.611-1956T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36968920 | ||||||
| chr5:36970259
|
T | C | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.611-617T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36970259 | ||||||
| chr5:36970411
|
C | CTA | 143 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(140): Show | 145 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(142): Show |
intron_variant | MODIFIER | c.611-446_611-445dup others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36970411 | |||||
| chr5:36970411
|
C | CTATA | 26 | a0001c0001t0001g0051a0001c0001t0001g0273a0001c0002t0001g0248others(23): Show | 26 | HG01109.hp2 HG01884.hp2 HG02074.hp2 others(23): Show |
intron_variant | MODIFIER | c.611-448_611-445dup others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36970411 | |||||
| chr5:36970411
|
C | CTATATA | 6 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0229others(3): Show | 6 | HG01361.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-450_611-445dup others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36970411 | |||||
| chr5:36970411
|
CTA | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.611-446_611-445del others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr5 | 36970411 | |||||
| chr5:36970432
|
A | T | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.611-444A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36970432 | ||||||
| chr5:36970638
|
G | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.611-238G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 6/46 | chr5 | 36970638 | ||||||
| chr5:36971181
|
G | A | 1 | a0002c0003t0001g0323 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.771+145G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 7/46 | chr5 | 36971181 | ||||||
| chr5:36971267
|
T | TA | 157 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(154): Show | 159 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.771+244dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr5 | 36971267 | |||||
| chr5:36971298
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.771+262G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 7/46 | chr5 | 36971298 | ||||||
| chr5:36971388
|
A | C | 22 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(19): Show | 22 | HG01243.hp1 HG01346.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.771+352A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 7/46 | chr5 | 36971388 | ||||||
| chr5:36972107
|
T | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.868+66T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972107 | ||||||
| chr5:36972242
|
C | T | 1 | a0001c0001t0001g0190 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.868+201C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972242 | ||||||
| chr5:36972272
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.868+231C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972272 | ||||||
| chr5:36972454
|
C | T | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.868+413C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972454 | ||||||
| chr5:36972590
|
G | A | 1 | a0001c0002t0001g0248 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.868+549G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972590 | ||||||
| chr5:36972813
|
C | CTA | 227 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(224): Show | 229 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.868+773_868+774ins others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr5 | 36972813 | |||||
| chr5:36972987
|
A | G | 1 | a0001c0002t0001g0287 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.868+946A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36972987 | ||||||
| chr5:36973121
|
G | T | 1 | a0001c0006t0002g0321 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.868+1080G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973121 | ||||||
| chr5:36973350
|
A | T | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.868+1309A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973350 | ||||||
| chr5:36973451
|
A | G | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.868+1410A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973451 | ||||||
| chr5:36973548
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.868+1507A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973548 | ||||||
| chr5:36973560
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.868+1519C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973560 | ||||||
| chr5:36973615
|
A | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.868+1574A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973615 | ||||||
| chr5:36973628
|
C | T | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0241 | 3 | HG01516.hp2 HG01517.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.868+1587C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973628 | ||||||
| chr5:36973726
|
C | G | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.868+1685C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973726 | ||||||
| chr5:36973730
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.868+1689A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36973730 | ||||||
| chr5:36974125
|
C | T | 1 | a0001c0001t0001g0084 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.869-1651C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36974125 | ||||||
| chr5:36974399
|
A | G | 1 | a0001c0001t0001g0008 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.869-1377A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36974399 | ||||||
| chr5:36974478
|
C | G | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.869-1298C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36974478 | ||||||
| chr5:36974680
|
TAG | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.869-1093_869-1092d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr5 | 36974680 | |||||
| chr5:36975253
|
A | G | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.869-523A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36975253 | ||||||
| chr5:36975439
|
G | T | 1 | a0001c0001t0001g0219 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.869-337G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 8/46 | chr5 | 36975439 | ||||||
| chr5:36976581
|
T | C | 1 | a0001c0001t0001g0324 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1495+179T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36976581 | ||||||
| chr5:36976674
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1495+272G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36976674 | ||||||
| chr5:36976703
|
A | G | 3 | a0001c0002t0001g0243a0001c0002t0001g0258a0001c0002t0001g0265 | 3 | NA18994.hp1 NA19004.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1495+301A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36976703 | ||||||
| chr5:36976856
|
T | G | 9 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(6): Show | 9 | HG02451.hp2 HG02630.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.1495+454T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36976856 | ||||||
| chr5:36976901
|
A | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.1495+499A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36976901 | ||||||
| chr5:36977053
|
C | A | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1495+651C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977053 | ||||||
| chr5:36977053
|
C | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0063 | 2 | NA19012.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.1495+651C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977053 | ||||||
| chr5:36977379
|
A | C | 40 | a0001c0002t0001g0296a0002c0003t0001g0116a0002c0003t0001g0117others(37): Show | 40 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.1495+977A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977379 | ||||||
| chr5:36977586
|
G | GT | 79 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0059others(76): Show | 79 | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(76): Show |
intron_variant | MODIFIER | c.1495+1193dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr5 | 36977586 | |||||
| chr5:36977599
|
T | G | 6 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0161others(3): Show | 6 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.1495+1197T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977599 | ||||||
| chr5:36977602
|
C | CT | 8 | a0001c0001t0001g0172a0001c0002t0001g0259a0001c0004t0001g0173others(5): Show | 8 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(5): Show |
intron_variant | MODIFIER | c.1495+1213dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr5 | 36977602 | |||||
| chr5:36977615
|
T | A | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1495+1213T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977615 | ||||||
| chr5:36977630
|
G | GGATA | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1495+1229_1495+123 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr5 | 36977630 | |||||
| chr5:36977673
|
G | A | 1 | a0001c0001t0001g0063 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.1495+1271G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977673 | ||||||
| chr5:36977699
|
C | T | 29 | a0001c0002t0001g0296a0002c0003t0001g0116a0002c0003t0001g0117others(26): Show | 29 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.1495+1297C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977699 | ||||||
| chr5:36977700
|
G | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.1495+1298G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977700 | ||||||
| chr5:36977881
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1495+1479T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36977881 | ||||||
| chr5:36978061
|
A | G | 2 | a0001c0001t0001g0034a0001c0001t0001g0049 | 2 | NA18968.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.1495+1659A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36978061 | ||||||
| chr5:36978063
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.1495+1661A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36978063 | ||||||
| chr5:36978085
|
T | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1495+1683T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36978085 | ||||||
| chr5:36978108
|
A | G | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.1495+1706A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36978108 | ||||||
| chr5:36978442
|
T | G | 1 | a0001c0001t0001g0027 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1495+2040T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36978442 | ||||||
| chr5:36979253
|
A | G | 3 | a0002c0003t0001g0136a0002c0003t0001g0137a0002c0003t0001g0138 | 3 | HG01891.hp1 HG02486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.1495+2851A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36979253 | ||||||
| chr5:36979327
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1495+2925G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36979327 | ||||||
| chr5:36979451
|
C | T | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1495+3049C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36979451 | ||||||
| chr5:36979833
|
A | G | 1 | a0001c0002t0007g0254 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1495+3431A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36979833 | ||||||
| chr5:36980022
|
A | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1495+3620A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980022 | ||||||
| chr5:36980024
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1495+3622C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980024 | ||||||
| chr5:36980033
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1495+3631A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980033 | ||||||
| chr5:36980286
|
C | T | 1 | a0001c0002t0001g0278 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1495+3884C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980286 | ||||||
| chr5:36980402
|
C | G | 1 | a0001c0001t0001g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1495+4000C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980402 | ||||||
| chr5:36980421
|
G | A | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1495+4019G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980421 | ||||||
| chr5:36980434
|
C | T | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1495+4032C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980434 | ||||||
| chr5:36980551
|
A | C | 6 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(3): Show | 8 | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.1496-4125A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980551 | ||||||
| chr5:36980580
|
C | T | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.1496-4096C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980580 | ||||||
| chr5:36980740
|
G | A | 1 | a0001c0002t0001g0262 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1496-3936G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980740 | ||||||
| chr5:36980868
|
G | A | 4 | a0001c0001t0001g0010a0001c0001t0001g0210a0001c0001t0001g0230others(1): Show | 4 | NA18965.hp1 NA18978.hp1 NA19080.hp2 others(1): Show |
intron_variant | MODIFIER | c.1496-3808G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980868 | ||||||
| chr5:36980954
|
G | A | 5 | a0001c0001t0001g0001a0001c0001t0001g0143a0001c0001t0001g0144others(2): Show | 7 | HG00639.hp2 HG00642.hp2 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.1496-3722G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36980954 | ||||||
| chr5:36981084
|
A | T | 1 | a0001c0001t0001g0016 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1496-3592A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981084 | ||||||
| chr5:36981400
|
C | T | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1496-3276C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981400 | ||||||
| chr5:36981483
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1496-3193C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981483 | ||||||
| chr5:36981691
|
G | A | 1 | a0001c0002t0007g0254 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1496-2985G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981691 | ||||||
| chr5:36981788
|
T | C | 5 | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(2): Show | 5 | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.1496-2888T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981788 | ||||||
| chr5:36981897
|
C | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1496-2779C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981897 | ||||||
| chr5:36981927
|
G | T | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(4): Show | 7 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1496-2749G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36981927 | ||||||
| chr5:36982114
|
C | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1496-2562C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982114 | ||||||
| chr5:36982250
|
A | G | 1 | a0001c0001t0001g0016 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1496-2426A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982250 | ||||||
| chr5:36982409
|
A | G | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1496-2267A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982409 | ||||||
| chr5:36982431
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1496-2245A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982431 | ||||||
| chr5:36982546
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.1496-2130A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982546 | ||||||
| chr5:36982585
|
A | G | 4 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1496-2091A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982585 | ||||||
| chr5:36982696
|
C | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1496-1980C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982696 | ||||||
| chr5:36982861
|
G | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.1496-1815G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982861 | ||||||
| chr5:36982949
|
T | C | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.1496-1727T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36982949 | ||||||
| chr5:36983154
|
A | G | 1 | a0001c0002t0001g0282 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1496-1522A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983154 | ||||||
| chr5:36983268
|
G | C | 1 | a0001c0002t0001g0257 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1496-1408G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983268 | ||||||
| chr5:36983416
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1496-1260A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983416 | ||||||
| chr5:36983540
|
T | C | 41 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.1496-1136T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983540 | ||||||
| chr5:36983688
|
A | C | 2 | a0001c0001t0001g0010a0001c0001t0001g0238 | 2 | NA18978.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1496-988A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983688 | ||||||
| chr5:36983851
|
T | C | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1496-825T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36983851 | ||||||
| chr5:36984065
|
CTT | C | 69 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0002t0001g0068others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.1496-608_1496-607d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr5 | 36984065 | |||||
| chr5:36984150
|
A | G | 2 | a0001c0002t0001g0302a0001c0002t0001g0303 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1496-526A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36984150 | ||||||
| chr5:36984604
|
C | T | 2 | a0001c0001t0001g0031a0001c0001t0001g0060 | 2 | HG00323.hp2 HG01123.hp1 |
intron_variant | MODIFIER | c.1496-72C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 9/46 | chr5 | 36984604 | ||||||
| chr5:36986312
|
T | G | 3 | a0001c0004t0002g0196a0001c0004t0002g0199a0001c0004t0002g0203 | 3 | HG02145.hp2 HG02818.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3121+11T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36986312 | ||||||
| chr5:36986427
|
A | G | 1 | a0001c0001t0001g0007 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3121+126A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36986427 | ||||||
| chr5:36986586
|
T | C | 72 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.3121+285T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36986586 | ||||||
| chr5:36986934
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.3121+633T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36986934 | ||||||
| chr5:36987099
|
C | T | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3121+798C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987099 | ||||||
| chr5:36987100
|
G | A | 9 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(6): Show | 9 | HG02451.hp2 HG02630.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.3121+799G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987100 | ||||||
| chr5:36987176
|
A | G | 1 | a0002c0003t0001g0116 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3121+875A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987176 | ||||||
| chr5:36987258
|
T | C | 1 | a0001c0006t0002g0316 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3121+957T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987258 | ||||||
| chr5:36987460
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.3121+1159G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987460 | ||||||
| chr5:36987508
|
C | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3121+1207C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987508 | ||||||
| chr5:36987511
|
A | G | 1 | a0001c0001t0001g0026 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.3121+1210A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987511 | ||||||
| chr5:36987624
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3121+1323G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36987624 | ||||||
| chr5:36988046
|
T | C | 1 | a0001c0001t0001g0179 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3121+1745T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36988046 | ||||||
| chr5:36988150
|
G | A | 69 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.3121+1849G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36988150 | ||||||
| chr5:36988779
|
A | G | 3 | a0001c0001t0001g0172a0001c0004t0001g0173a0001c0004t0001g0174 | 3 | HG03098.hp1 HG03471.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3121+2478A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36988779 | ||||||
| chr5:36989305
|
A | G | 1 | a0001c0002t0001g0279 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.3121+3004A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36989305 | ||||||
| chr5:36989362
|
T | C | 15 | a0001c0002t0001g0239a0001c0002t0001g0246a0001c0002t0001g0276others(12): Show | 15 | HG00099.hp1 HG00735.hp2 HG03017.hp2 others(12): Show |
intron_variant | MODIFIER | c.3121+3061T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36989362 | ||||||
| chr5:36989363
|
T | C | 1 | a0001c0001t0001g0042 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.3121+3062T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36989363 | ||||||
| chr5:36989436
|
C | G | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3121+3135C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36989436 | ||||||
| chr5:36989804
|
A | T | 1 | a0001c0001t0001g0025 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3121+3503A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36989804 | ||||||
| chr5:36989839
|
C | CA | 22 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0016others(19): Show | 22 | HG00544.hp1 HG00738.hp1 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.3121+3562dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36989839 | |||||
| chr5:36989839
|
CA | C | 51 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0038others(48): Show | 53 | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(50): Show |
intron_variant | MODIFIER | c.3121+3562delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36989839 | |||||
| chr5:36989839
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0062 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3121+3552_3121+356 others(15): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36989839 | |||||
| chr5:36989839
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0002t0001g0255 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3121+3547_3121+356 others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36989839 | |||||
| chr5:36990197
|
G | A | 1 | a0001c0001t0001g0234 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.3121+3896G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990197 | ||||||
| chr5:36990377
|
A | G | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.3121+4076A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990377 | ||||||
| chr5:36990381
|
C | T | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.3121+4080C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990381 | ||||||
| chr5:36990434
|
A | AT | 225 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.3121+4134dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36990434 | |||||
| chr5:36990631
|
G | A | 3 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | HG02896.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3121+4330G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990631 | ||||||
| chr5:36990643
|
A | T | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.3121+4342A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990643 | ||||||
| chr5:36990686
|
C | G | 64 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 66 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.3121+4385C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990686 | ||||||
| chr5:36990956
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3121+4655A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990956 | ||||||
| chr5:36990983
|
T | G | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(4): Show | 7 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.3122-4639T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36990983 | ||||||
| chr5:36990993
|
T | TA | 6 | a0002c0003t0001g0291a0003c0005t0001g0105a0003c0005t0001g0106others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.3122-4617dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36990993 | |||||
| chr5:36991031
|
G | A | 4 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3122-4591G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991031 | ||||||
| chr5:36991301
|
T | C | 2 | a0003c0005t0001g0108a0003c0005t0001g0109 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.3122-4321T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991301 | ||||||
| chr5:36991332
|
A | G | 1 | a0001c0001t0001g0088 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.3122-4290A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991332 | ||||||
| chr5:36991394
|
G | T | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.3122-4228G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991394 | ||||||
| chr5:36991498
|
A | T | 2 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | NA18952.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.3122-4124A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991498 | ||||||
| chr5:36991510
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3122-4112G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991510 | ||||||
| chr5:36991670
|
C | T | 48 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(45): Show | 50 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(47): Show |
intron_variant | MODIFIER | c.3122-3952C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991670 | ||||||
| chr5:36991745
|
G | GT | 51 | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0064others(48): Show | 51 | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(48): Show |
intron_variant | MODIFIER | c.3122-3858dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36991745 | |||||
| chr5:36991745
|
G | GTT | 7 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(4): Show | 7 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.3122-3859_3122-385 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36991745 | |||||
| chr5:36991825
|
G | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3122-3797G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36991825 | ||||||
| chr5:36992710
|
T | TTTTA | 32 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0028others(29): Show | 32 | HG00544.hp2 HG00639.hp1 HG01433.hp2 others(29): Show |
intron_variant | MODIFIER | c.3122-2865_3122-286 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
T | TTTTATTT others(1): Show |
30 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0031others(27): Show | 32 | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(29): Show |
intron_variant | MODIFIER | c.3122-2869_3122-286 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
T | TTTTATTT others(5): Show |
5 | a0001c0001t0001g0143a0001c0001t0001g0149a0001c0004t0002g0200others(2): Show | 5 | HG00639.hp2 HG02257.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.3122-2873_3122-286 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
T | TTTTATTT others(9): Show |
1 | a0001c0004t0001g0174 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3122-2877_3122-286 others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
TTTTA | T | 93 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(90): Show | 93 | HG00408.hp1 HG00423.hp1 HG00621.hp1 others(90): Show |
intron_variant | MODIFIER | c.3122-2865_3122-286 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
TTTTATTT others(1): Show |
T | 8 | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0096others(5): Show | 8 | HG00408.hp2 HG01346.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.3122-2869_3122-286 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
TTTTATTT others(5): Show |
T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.3122-2873_3122-286 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992710
|
TTTTATTT others(13): Show |
T | 3 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0008t0001g0252 | 3 | HG00140.hp2 HG01175.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.3122-2881_3122-286 others(24): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36992710 | |||||
| chr5:36992803
|
C | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0052 | 2 | HG00408.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.3122-2819C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36992803 | ||||||
| chr5:36992829
|
G | A | 2 | a0001c0002t0001g0269a0002c0003t0001g0127 | 2 | HG03831.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.3122-2793G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36992829 | ||||||
| chr5:36992888
|
A | G | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.3122-2734A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36992888 | ||||||
| chr5:36992992
|
C | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3122-2630C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36992992 | ||||||
| chr5:36993076
|
C | T | 1 | a0001c0001t0001g0227 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.3122-2546C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36993076 | ||||||
| chr5:36993328
|
G | T | 1 | a0001c0001t0001g0170 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3122-2294G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36993328 | ||||||
| chr5:36993415
|
C | G | 2 | a0001c0001t0001g0169a0001c0001t0001g0325 | 2 | HG02280.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.3122-2207C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36993415 | ||||||
| chr5:36993731
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.3122-1891T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36993731 | ||||||
| chr5:36993879
|
C | CCA | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.3122-1742_3122-174 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36993879 | |||||
| chr5:36994071
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.3122-1551T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994071 | ||||||
| chr5:36994447
|
G | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3122-1175G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994447 | ||||||
| chr5:36994448
|
T | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3122-1174T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994448 | ||||||
| chr5:36994505
|
C | T | 1 | a0001c0002t0001g0264 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.3122-1117C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994505 | ||||||
| chr5:36994545
|
T | C | 1 | a0001c0001t0001g0020 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3122-1077T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994545 | ||||||
| chr5:36994715
|
G | A | 1 | a0001c0006t0001g0320 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.3122-907G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994715 | ||||||
| chr5:36994804
|
T | G | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.3122-818T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994804 | ||||||
| chr5:36994815
|
G | C | 1 | a0001c0001t0001g0016 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.3122-807G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994815 | ||||||
| chr5:36994845
|
C | G | 1 | a0002c0003t0001g0129 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3122-777C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994845 | ||||||
| chr5:36994870
|
A | G | 1 | a0002c0003t0001g0313 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3122-752A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994870 | ||||||
| chr5:36994882
|
C | CTT | 230 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(227): Show | 232 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
intron_variant | MODIFIER | c.3122-739_3122-738d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr5 | 36994882 | |||||
| chr5:36994960
|
G | C | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3122-662G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994960 | ||||||
| chr5:36994991
|
C | G | 1 | a0001c0001t0001g0056 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3122-631C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36994991 | ||||||
| chr5:36995103
|
T | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(227): Show | 232 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
intron_variant | MODIFIER | c.3122-519T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36995103 | ||||||
| chr5:36995413
|
C | T | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3122-209C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36995413 | ||||||
| chr5:36995474
|
G | A | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3122-148G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36995474 | ||||||
| chr5:36995600
|
T | A | 2 | a0001c0001t0001g0077a0001c0011t0001g0078 | 2 | NA19056.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.3122-22T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 10/46 | chr5 | 36995600 | ||||||
| chr5:36995869
|
A | G | 1 | a0002c0003t0003g0165 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3304+65A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36995869 | ||||||
| chr5:36995925
|
T | C | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3304+121T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36995925 | ||||||
| chr5:36995933
|
G | GT | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3304+136dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr5 | 36995933 | |||||
| chr5:36995996
|
A | G | 1 | a0001c0001t0001g0017 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3304+192A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36995996 | ||||||
| chr5:36996243
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3304+439T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36996243 | ||||||
| chr5:36996246
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.3304+442A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36996246 | ||||||
| chr5:36996315
|
G | A | 1 | a0002c0003t0001g0117 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.3304+511G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36996315 | ||||||
| chr5:36997232
|
A | C | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.3304+1428A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997232 | ||||||
| chr5:36997454
|
A | G | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.3304+1650A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997454 | ||||||
| chr5:36997517
|
G | C | 1 | a0009c0012t0001g0272 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.3304+1713G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997517 | ||||||
| chr5:36997560
|
G | C | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3304+1756G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997560 | ||||||
| chr5:36997572
|
C | T | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.3304+1768C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997572 | ||||||
| chr5:36997630
|
A | G | 1 | a0001c0001t0001g0008 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3304+1826A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997630 | ||||||
| chr5:36997725
|
G | C | 228 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(225): Show | 230 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(227): Show |
intron_variant | MODIFIER | c.3304+1921G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997725 | ||||||
| chr5:36997798
|
AAC | A | 4 | a0001c0001t0001g0026a0001c0001t0001g0061a0001c0001t0001g0077others(1): Show | 4 | NA18993.hp2 NA19056.hp1 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.3304+1996_3304+199 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr5 | 36997798 | |||||
| chr5:36997851
|
G | A | 66 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(63): Show | 68 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.3304+2047G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997851 | ||||||
| chr5:36997892
|
A | C | 1 | a0002c0003t0003g0165 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3304+2088A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997892 | ||||||
| chr5:36997893
|
A | T | 1 | a0002c0003t0001g0323 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.3304+2089A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36997893 | ||||||
| chr5:36998050
|
G | T | 4 | a0001c0002t0001g0068a0001c0002t0001g0251a0001c0002t0001g0275others(1): Show | 4 | HG02080.hp2 NA18975.hp2 NA19054.hp2 others(1): Show |
intron_variant | MODIFIER | c.3304+2246G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998050 | ||||||
| chr5:36998185
|
A | G | 40 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(37): Show | 40 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.3305-2188A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998185 | ||||||
| chr5:36998294
|
T | C | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.3305-2079T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998294 | ||||||
| chr5:36998332
|
A | T | 1 | a0002c0003t0001g0118 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3305-2041A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998332 | ||||||
| chr5:36998464
|
T | G | 13 | a0001c0002t0001g0246a0001c0002t0001g0289a0001c0002t0001g0290others(10): Show | 13 | HG00099.hp1 HG00735.hp2 HG03017.hp2 others(10): Show |
intron_variant | MODIFIER | c.3305-1909T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998464 | ||||||
| chr5:36998646
|
T | G | 2 | a0001c0001t0001g0206a0001c0001t0001g0235 | 2 | HG02015.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.3305-1727T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998646 | ||||||
| chr5:36998840
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3305-1533A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998840 | ||||||
| chr5:36998891
|
G | A | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.3305-1482G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998891 | ||||||
| chr5:36998894
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3305-1479A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36998894 | ||||||
| chr5:36999171
|
G | A | 1 | a0001c0002t0001g0257 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.3305-1202G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999171 | ||||||
| chr5:36999193
|
G | A | 39 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(36): Show | 39 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.3305-1180G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999193 | ||||||
| chr5:36999272
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3305-1101A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999272 | ||||||
| chr5:36999300
|
C | A | 4 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0180others(1): Show | 4 | HG02258.hp1 HG02965.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3305-1073C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999300 | ||||||
| chr5:36999381
|
C | T | 1 | a0008c0014t0002g0319 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.3305-992C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999381 | ||||||
| chr5:36999506
|
G | A | 1 | a0001c0002t0001g0294 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.3305-867G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999506 | ||||||
| chr5:36999621
|
C | T | 6 | a0001c0002t0001g0293a0001c0002t0001g0294a0001c0002t0001g0295others(3): Show | 6 | NA18939.hp2 NA18954.hp1 NA18987.hp1 others(3): Show |
intron_variant | MODIFIER | c.3305-752C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999621 | ||||||
| chr5:36999713
|
C | CGCTT | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3305-659_3305-658i others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr5 | 36999713 | |||||
| chr5:36999828
|
A | G | 1 | a0001c0002t0001g0276 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3305-545A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999828 | ||||||
| chr5:36999835
|
G | C | 13 | a0001c0002t0001g0246a0001c0002t0001g0289a0001c0002t0001g0290others(10): Show | 13 | HG00099.hp1 HG00735.hp2 HG03017.hp2 others(10): Show |
intron_variant | MODIFIER | c.3305-538G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999835 | ||||||
| chr5:36999896
|
A | G | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.3305-477A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 36999896 | ||||||
| chr5:37000069
|
C | T | 11 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.3305-304C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 37000069 | ||||||
| chr5:37000177
|
A | T | 1 | a0001c0001t0001g0090 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3305-196A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 37000177 | ||||||
| chr5:37000281
|
AT | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.3305-85delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr5 | 37000281 | |||||
| chr5:37000288
|
T | G | 1 | a0001c0001t0001g0233 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3305-85T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 11/46 | chr5 | 37000288 | ||||||
| chr5:37000908
|
A | C | 1 | a0001c0001t0001g0011 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3574+20A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 13/46 | chr5 | 37000908 | ||||||
| chr5:37000972
|
A | G | 42 | a0001c0001t0001g0085a0002c0003t0001g0116a0002c0003t0001g0117others(39): Show | 42 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(39): Show |
intron_variant | MODIFIER | c.3575-17A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 13/46 | chr5 | 37000972 | ||||||
| chr5:37001299
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3664+221G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37001299 | ||||||
| chr5:37001569
|
A | G | 1 | a0001c0004t0005g0197 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3664+491A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37001569 | ||||||
| chr5:37001700
|
T | C | 2 | a0003c0005t0001g0105a0003c0005t0001g0106 | 2 | HG02559.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3664+622T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37001700 | ||||||
| chr5:37001789
|
C | G | 1 | a0001c0001t0001g0071 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3664+711C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37001789 | ||||||
| chr5:37002243
|
G | A | 3 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312 | 3 | HG01884.hp1 HG02723.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3665-419G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37002243 | ||||||
| chr5:37002433
|
A | G | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3665-229A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37002433 | ||||||
| chr5:37002536
|
T | C | 16 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(13): Show | 16 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.3665-126T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37002536 | ||||||
| chr5:37002564
|
T | C | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3665-98T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37002564 | ||||||
| chr5:37002652
|
G | A | 1 | a0001c0001t0001g0324 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3665-10G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 14/46 | chr5 | 37002652 | ||||||
| chr5:37003022
|
C | T | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3769-239C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 15/46 | chr5 | 37003022 | ||||||
| chr5:37003087
|
T | G | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.3769-174T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 15/46 | chr5 | 37003087 | ||||||
| chr5:37003399
|
A | G | 50 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(47): Show | 52 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.3855+52A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37003399 | ||||||
| chr5:37003420
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3855+73A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37003420 | ||||||
| chr5:37003523
|
A | G | 6 | a0001c0002t0001g0293a0001c0002t0001g0294a0001c0002t0001g0295others(3): Show | 6 | NA18939.hp2 NA18954.hp1 NA18987.hp1 others(3): Show |
intron_variant | MODIFIER | c.3855+176A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37003523 | ||||||
| chr5:37003696
|
CAT | C | 75 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(72): Show | 77 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(74): Show |
intron_variant | MODIFIER | c.3855+350_3855+351d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37003696 | ||||||
| chr5:37003871
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3855+524C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37003871 | ||||||
| chr5:37004205
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3855+858A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004205 | ||||||
| chr5:37004218
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3855+871T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004218 | ||||||
| chr5:37004223
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.3855+876A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004223 | ||||||
| chr5:37004241
|
G | A | 3 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312 | 3 | HG01884.hp1 HG02723.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3855+894G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004241 | ||||||
| chr5:37004460
|
A | C | 66 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(63): Show | 68 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.3855+1113A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004460 | ||||||
| chr5:37004775
|
C | T | 1 | a0001c0001t0001g0020 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3855+1428C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004775 | ||||||
| chr5:37004856
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3856-1501G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004856 | ||||||
| chr5:37004926
|
G | A | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.3856-1431G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37004926 | ||||||
| chr5:37005003
|
G | A | 222 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(219): Show | 224 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(221): Show |
intron_variant | MODIFIER | c.3856-1354G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37005003 | ||||||
| chr5:37005163
|
G | A | 6 | a0001c0002t0001g0293a0001c0002t0001g0294a0001c0002t0001g0295others(3): Show | 6 | NA18939.hp2 NA18954.hp1 NA18987.hp1 others(3): Show |
intron_variant | MODIFIER | c.3856-1194G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37005163 | ||||||
| chr5:37005783
|
A | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3856-574A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37005783 | ||||||
| chr5:37005785
|
A | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.3856-572A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37005785 | ||||||
| chr5:37005865
|
A | G | 4 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312others(1): Show | 4 | HG01884.hp1 HG02572.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.3856-492A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 16/46 | chr5 | 37005865 | ||||||
| chr5:37006817
|
A | G | 1 | a0004c0007t0001g0037 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.4087+229A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 17/46 | chr5 | 37006817 | ||||||
| chr5:37006887
|
T | A | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.4087+299T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 17/46 | chr5 | 37006887 | ||||||
| chr5:37007514
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4239+40A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 18/46 | chr5 | 37007514 | ||||||
| chr5:37007527
|
T | C | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.4239+53T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 18/46 | chr5 | 37007527 | ||||||
| chr5:37007626
|
C | G | 5 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0099others(2): Show | 5 | HG00735.hp1 HG00738.hp1 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.4239+152C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 18/46 | chr5 | 37007626 | ||||||
| chr5:37007740
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4239+266T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 18/46 | chr5 | 37007740 | ||||||
| chr5:37007994
|
T | G | 13 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0194others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.4240-14T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 18/46 | chr5 | 37007994 | ||||||
| chr5:37008285
|
A | G | 1 | a0002c0003t0001g0128 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.4320+197A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 19/46 | chr5 | 37008285 | ||||||
| chr5:37008450
|
C | G | 1 | a0001c0001t0001g0084 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.4321-173C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 19/46 | chr5 | 37008450 | ||||||
| chr5:37008588
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.4321-35T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 19/46 | chr5 | 37008588 | ||||||
| chr5:37008730
|
A | G | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
splice_region_variant&intron_variant | LOW | c.4421+7A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37008730 | ||||||
| chr5:37008903
|
A | T | 1 | a0006c0018t0001g0317 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4421+180A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37008903 | ||||||
| chr5:37008921
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4421+198G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37008921 | ||||||
| chr5:37009135
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.4421+412T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37009135 | ||||||
| chr5:37009612
|
A | G | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4422-475A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37009612 | ||||||
| chr5:37009663
|
A | G | 3 | a0001c0001t0001g0111a0001c0001t0001g0112a0002c0003t0001g0139 | 3 | HG00323.hp1 HG02683.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.4422-424A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37009663 | ||||||
| chr5:37009672
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4422-415T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37009672 | ||||||
| chr5:37009960
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.4422-127C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 20/46 | chr5 | 37009960 | ||||||
| chr5:37010302
|
A | G | 72 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.4560+77A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010302 | ||||||
| chr5:37010346
|
C | T | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.4560+121C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010346 | ||||||
| chr5:37010379
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.4560+154G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010379 | ||||||
| chr5:37010548
|
C | A | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4560+323C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010548 | ||||||
| chr5:37010640
|
G | A | 1 | a0001c0001t0001g0063 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.4560+415G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010640 | ||||||
| chr5:37010699
|
G | T | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4560+474G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010699 | ||||||
| chr5:37010700
|
T | G | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4560+475T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010700 | ||||||
| chr5:37010716
|
T | C | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4560+491T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010716 | ||||||
| chr5:37010813
|
G | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.4560+588G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37010813 | ||||||
| chr5:37011022
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4560+797A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011022 | ||||||
| chr5:37011118
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4560+893A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011118 | ||||||
| chr5:37011335
|
T | A | 1 | a0001c0002t0001g0289 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4560+1110T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011335 | ||||||
| chr5:37011358
|
C | T | 1 | a0001c0004t0002g0204 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4560+1133C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011358 | ||||||
| chr5:37011498
|
T | A | 1 | a0001c0001t0001g0043 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.4560+1273T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011498 | ||||||
| chr5:37011693
|
C | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4560+1468C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011693 | ||||||
| chr5:37011796
|
G | A | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4560+1571G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011796 | ||||||
| chr5:37011916
|
G | A | 84 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(81): Show | 86 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.4560+1691G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011916 | ||||||
| chr5:37011917
|
T | A | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4560+1692T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011917 | ||||||
| chr5:37011955
|
T | G | 1 | a0001c0001t0001g0225 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.4560+1730T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37011955 | ||||||
| chr5:37012139
|
CT | C | 24 | a0001c0002t0001g0245a0001c0002t0001g0253a0001c0002t0001g0271others(21): Show | 24 | HG01109.hp2 HG02145.hp2 HG02451.hp1 others(21): Show |
intron_variant | MODIFIER | c.4560+1928delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37012139 | |||||
| chr5:37012316
|
A | AT | 25 | a0001c0001t0001g0012a0001c0001t0001g0141a0001c0001t0001g0142others(22): Show | 25 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(22): Show |
intron_variant | MODIFIER | c.4560+2107dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37012316 | |||||
| chr5:37012430
|
A | G | 1 | a0001c0001t0001g0042 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4560+2205A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012430 | ||||||
| chr5:37012456
|
A | AT | 38 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0018others(35): Show | 38 | HG00099.hp1 HG01891.hp2 HG02055.hp1 others(35): Show |
intron_variant | MODIFIER | c.4561-2202dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37012456 | |||||
| chr5:37012456
|
AT | A | 23 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0029others(20): Show | 23 | HG00323.hp2 HG01192.hp1 HG01257.hp2 others(20): Show |
intron_variant | MODIFIER | c.4561-2202delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37012456 | |||||
| chr5:37012456
|
ATTTTTTT others(4): Show |
A | 1 | a0002c0003t0001g0126 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4561-2212_4561-220 others(15): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37012456 | |||||
| chr5:37012481
|
T | A | 2 | a0001c0001t0001g0171a0001c0001t0001g0192 | 2 | HG02886.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.4561-2202T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012481 | ||||||
| chr5:37012493
|
G | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4561-2190G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012493 | ||||||
| chr5:37012503
|
G | A | 1 | a0001c0001t0001g0192 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4561-2180G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012503 | ||||||
| chr5:37012604
|
C | T | 1 | a0002c0003t0001g0161 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4561-2079C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012604 | ||||||
| chr5:37012613
|
G | A | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.4561-2070G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012613 | ||||||
| chr5:37012621
|
G | T | 14 | a0001c0002t0001g0246a0001c0002t0001g0256a0001c0002t0001g0289others(11): Show | 14 | HG00099.hp1 HG00735.hp2 HG02132.hp2 others(11): Show |
intron_variant | MODIFIER | c.4561-2062G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012621 | ||||||
| chr5:37012622
|
C | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4561-2061C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012622 | ||||||
| chr5:37012843
|
A | G | 224 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(221): Show | 226 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(223): Show |
intron_variant | MODIFIER | c.4561-1840A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012843 | ||||||
| chr5:37012864
|
T | C | 7 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(4): Show | 7 | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.4561-1819T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012864 | ||||||
| chr5:37012880
|
C | A | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4561-1803C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012880 | ||||||
| chr5:37012896
|
T | C | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4561-1787T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012896 | ||||||
| chr5:37012923
|
T | C | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.4561-1760T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37012923 | ||||||
| chr5:37013044
|
A | AC | 78 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(75): Show | 80 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.4561-1630dupC | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37013044 | |||||
| chr5:37013121
|
G | T | 1 | a0001c0001t0001g0014 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.4561-1562G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013121 | ||||||
| chr5:37013128
|
C | T | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.4561-1555C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013128 | ||||||
| chr5:37013152
|
G | A | 2 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | HG02818.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.4561-1531G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013152 | ||||||
| chr5:37013185
|
C | T | 1 | a0001c0001t0004g0098 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.4561-1498C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013185 | ||||||
| chr5:37013195
|
CGGGGCGG others(71): Show |
C | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4561-1474_4561-139 others(82): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37013195 | |||||
| chr5:37013245
|
C | T | 3 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017 | 3 | HG01516.hp1 HG01952.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.4561-1438C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013245 | ||||||
| chr5:37013256
|
G | A | 39 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(36): Show | 39 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.4561-1427G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013256 | ||||||
| chr5:37013291
|
G | T | 2 | a0001c0002t0001g0068a0001c0002t0001g0251 | 2 | NA18975.hp2 NA19054.hp2 |
intron_variant | MODIFIER | c.4561-1392G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013291 | ||||||
| chr5:37013368
|
G | A | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.4561-1315G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013368 | ||||||
| chr5:37013414
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4561-1269G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013414 | ||||||
| chr5:37013423
|
T | TGGGCGGA others(33): Show |
2 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | HG02818.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.4561-1224_4561-118 others(44): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37013423 | |||||
| chr5:37013789
|
C | T | 4 | a0001c0001t0001g0026a0001c0001t0001g0061a0001c0001t0001g0077others(1): Show | 4 | NA18993.hp2 NA19056.hp1 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.4561-894C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013789 | ||||||
| chr5:37013801
|
G | A | 12 | a0001c0002t0001g0246a0001c0002t0001g0289a0001c0002t0001g0290others(9): Show | 12 | HG00099.hp1 HG00735.hp2 HG03017.hp2 others(9): Show |
intron_variant | MODIFIER | c.4561-882G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013801 | ||||||
| chr5:37013813
|
G | A | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.4561-870G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013813 | ||||||
| chr5:37013829
|
C | A | 1 | a0001c0001t0001g0102 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4561-854C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013829 | ||||||
| chr5:37013855
|
G | T | 1 | a0001c0001t0001g0217 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.4561-828G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013855 | ||||||
| chr5:37013890
|
C | G | 1 | a0001c0002t0001g0285 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.4561-793C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013890 | ||||||
| chr5:37013936
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.4561-747G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013936 | ||||||
| chr5:37013991
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.4561-692C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37013991 | ||||||
| chr5:37014003
|
G | A | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.4561-680G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014003 | ||||||
| chr5:37014026
|
C | T | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.4561-657C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014026 | ||||||
| chr5:37014034
|
C | T | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.4561-649C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014034 | ||||||
| chr5:37014177
|
G | A | 1 | a0001c0002t0001g0251 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.4561-506G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014177 | ||||||
| chr5:37014220
|
TGGAGAGG others(17): Show |
T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.4561-446_4561-423d others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr5 | 37014220 | |||||
| chr5:37014322
|
T | A | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.4561-361T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014322 | ||||||
| chr5:37014597
|
C | T | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.4561-86C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014597 | ||||||
| chr5:37014667
|
C | T | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.4561-16C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014667 | ||||||
| chr5:37014674
|
T | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.4561-9T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 21/46 | chr5 | 37014674 | ||||||
| chr5:37014955
|
CGGGGGAA others(1): Show |
C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.4643+191_4643+198d others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37014955 | ||||||
| chr5:37015072
|
G | T | 4 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0162others(1): Show | 4 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.4643+307G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015072 | ||||||
| chr5:37015083
|
G | A | 79 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(76): Show | 81 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(78): Show |
intron_variant | MODIFIER | c.4643+318G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015083 | ||||||
| chr5:37015116
|
A | G | 2 | a0001c0001t0001g0212a0001c0001t0001g0241 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.4643+351A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015116 | ||||||
| chr5:37015153
|
C | T | 17 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(14): Show | 17 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.4643+388C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015153 | ||||||
| chr5:37015504
|
G | A | 2 | a0001c0001t0001g0183a0001c0001t0001g0237 | 2 | HG02630.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4644-534G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015504 | ||||||
| chr5:37015572
|
A | G | 3 | a0001c0002t0001g0302a0001c0002t0001g0303a0001c0002t0001g0304 | 3 | HG01255.hp1 HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.4644-466A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015572 | ||||||
| chr5:37015607
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4644-431G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015607 | ||||||
| chr5:37015633
|
G | A | 1 | a0001c0002t0001g0288 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4644-405G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015633 | ||||||
| chr5:37015645
|
G | A | 1 | a0002c0003t0001g0126 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4644-393G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015645 | ||||||
| chr5:37015751
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.4644-287G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 22/46 | chr5 | 37015751 | ||||||
| chr5:37016182
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.4776+12G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 23/46 | chr5 | 37016182 | ||||||
| chr5:37016420
|
A | G | 14 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(11): Show | 14 | HG01346.hp2 HG02055.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.4776+250A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 23/46 | chr5 | 37016420 | ||||||
| chr5:37016524
|
A | C | 1 | a0001c0002t0001g0249 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4776+354A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 23/46 | chr5 | 37016524 | ||||||
| chr5:37016832
|
A | G | 1 | a0001c0001t0001g0017 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.4777-187A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 23/46 | chr5 | 37016832 | ||||||
| chr5:37017373
|
T | C | 1 | a0001c0001t0001g0014 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.4920+211T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37017373 | ||||||
| chr5:37017387
|
G | C | 4 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.4920+225G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37017387 | ||||||
| chr5:37017805
|
C | T | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4920+643C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37017805 | ||||||
| chr5:37017953
|
A | T | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4920+791A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37017953 | ||||||
| chr5:37018544
|
T | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.4921-767T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018544 | ||||||
| chr5:37018714
|
A | G | 74 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0002t0001g0068others(71): Show | 74 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.4921-597A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018714 | ||||||
| chr5:37018731
|
G | C | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4921-580G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018731 | ||||||
| chr5:37018737
|
C | A | 2 | a0001c0006t0002g0316a0006c0018t0001g0317 | 2 | HG02615.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4921-574C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018737 | ||||||
| chr5:37018773
|
C | G | 1 | a0001c0001t0001g0013 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4921-538C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018773 | ||||||
| chr5:37018823
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.4921-488G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018823 | ||||||
| chr5:37018930
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4921-381C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37018930 | ||||||
| chr5:37019108
|
A | C | 1 | a0001c0004t0002g0202 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4921-203A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37019108 | ||||||
| chr5:37019218
|
T | C | 1 | a0001c0002t0001g0292 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4921-93T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37019218 | ||||||
| chr5:37019252
|
G | A | 223 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.4921-59G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37019252 | ||||||
| chr5:37019299
|
T | C | 1 | a0001c0002t0001g0292 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4921-12T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 24/46 | chr5 | 37019299 | ||||||
| chr5:37019532
|
C | T | 1 | a0001c0002t0001g0289 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5010+132C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 25/46 | chr5 | 37019532 | ||||||
| chr5:37019580
|
T | G | 2 | a0002c0003t0001g0132a0002c0003t0001g0133 | 2 | HG02129.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.5010+180T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 25/46 | chr5 | 37019580 | ||||||
| chr5:37019764
|
A | G | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5010+364A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 25/46 | chr5 | 37019764 | ||||||
| chr5:37020016
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.5011-443T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 25/46 | chr5 | 37020016 | ||||||
| chr5:37020397
|
T | C | 8 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(5): Show | 8 | HG02109.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.5011-62T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 25/46 | chr5 | 37020397 | ||||||
| chr5:37021154
|
C | T | 1 | a0002c0003t0001g0116 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5328+277C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021154 | ||||||
| chr5:37021192
|
G | T | 69 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(66): Show | 69 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.5328+315G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021192 | ||||||
| chr5:37021218
|
G | C | 1 | a0002c0003t0001g0117 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.5328+341G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021218 | ||||||
| chr5:37021231
|
G | A | 1 | a0002c0003t0001g0129 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.5328+354G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021231 | ||||||
| chr5:37021303
|
C | A | 11 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(8): Show | 11 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.5328+426C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021303 | ||||||
| chr5:37021526
|
C | G | 2 | a0001c0001t0001g0038a0001c0001t0001g0072 | 2 | NA18977.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.5329-525C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021526 | ||||||
| chr5:37021831
|
T | C | 72 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.5329-220T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021831 | ||||||
| chr5:37021845
|
G | A | 1 | a0008c0014t0002g0319 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.5329-206G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021845 | ||||||
| chr5:37021867
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.5329-184A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37021867 | ||||||
| chr5:37022018
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.5329-33A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 27/46 | chr5 | 37022018 | ||||||
| chr5:37022425
|
T | C | 2 | a0001c0002t0001g0248a0001c0002t0001g0249 | 2 | HG01884.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.5574+35T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37022425 | ||||||
| chr5:37022651
|
T | A | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.5574+261T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37022651 | ||||||
| chr5:37022673
|
G | A | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.5574+283G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37022673 | ||||||
| chr5:37022688
|
T | C | 39 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(36): Show | 39 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.5574+298T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37022688 | ||||||
| chr5:37023215
|
A | G | 1 | a0001c0002t0001g0295 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.5574+825A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023215 | ||||||
| chr5:37023341
|
A | C | 1 | a0001c0001t0001g0180 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.5574+951A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023341 | ||||||
| chr5:37023616
|
G | A | 1 | a0001c0002t0001g0294 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.5575-969G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023616 | ||||||
| chr5:37023748
|
T | A | 4 | a0001c0002t0001g0293a0001c0002t0001g0295a0001c0002t0001g0297others(1): Show | 4 | NA18939.hp2 NA18987.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.5575-837T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023748 | ||||||
| chr5:37023750
|
C | CT | 27 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0030others(24): Show | 27 | HG01074.hp1 HG01192.hp2 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.5575-810dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr5 | 37023750 | |||||
| chr5:37023775
|
T | A | 3 | a0002c0003t0001g0132a0002c0003t0001g0162a0002c0003t0001g0244 | 3 | HG01517.hp2 HG02132.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.5575-810T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023775 | ||||||
| chr5:37023775
|
T | TA | 36 | a0002c0003t0001g0117a0002c0003t0001g0118a0002c0003t0001g0119others(33): Show | 36 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.5575-809dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr5 | 37023775 | |||||
| chr5:37023796
|
G | T | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.5575-789G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023796 | ||||||
| chr5:37023891
|
C | A | 1 | a0001c0001t0001g0004 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.5575-694C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37023891 | ||||||
| chr5:37024166
|
CA | C | 76 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(73): Show | 76 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.5575-407delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr5 | 37024166 | |||||
| chr5:37024186
|
C | A | 2 | a0001c0001t0001g0169a0001c0001t0001g0325 | 2 | HG02280.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.5575-399C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024186 | ||||||
| chr5:37024392
|
T | C | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.5575-193T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024392 | ||||||
| chr5:37024402
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.5575-183G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024402 | ||||||
| chr5:37024417
|
A | T | 324 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(321): Show | 326 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
intron_variant | MODIFIER | c.5575-168A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024417 | ||||||
| chr5:37024493
|
G | C | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.5575-92G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024493 | ||||||
| chr5:37024519
|
T | C | 1 | a0001c0001t0001g0155 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5575-66T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 29/46 | chr5 | 37024519 | ||||||
| chr5:37024829
|
G | A | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5709+110G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37024829 | ||||||
| chr5:37025246
|
A | G | 1 | a0001c0001t0001g0208 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.5709+527A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37025246 | ||||||
| chr5:37025281
|
T | G | 6 | a0001c0002t0001g0274a0001c0002t0001g0285a0001c0002t0001g0302others(3): Show | 6 | HG00140.hp2 HG01175.hp2 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.5709+562T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37025281 | ||||||
| chr5:37025442
|
C | T | 1 | a0001c0001t0001g0061 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.5709+723C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37025442 | ||||||
| chr5:37025769
|
C | A | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.5710-460C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37025769 | ||||||
| chr5:37026151
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.5710-78G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37026151 | ||||||
| chr5:37026207
|
T | C | 2 | a0001c0002t0001g0278a0001c0002t0001g0287 | 2 | NA18612.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.5710-22T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 30/46 | chr5 | 37026207 | ||||||
| chr5:37026979
|
T | C | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5809-380T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37026979 | ||||||
| chr5:37027039
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.5809-320G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37027039 | ||||||
| chr5:37027156
|
C | A | 38 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.5809-203C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37027156 | ||||||
| chr5:37027275
|
G | T | 1 | a0001c0001t0001g0087 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.5809-84G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37027275 | ||||||
| chr5:37027290
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.5809-69A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37027290 | ||||||
| chr5:37027327
|
C | A | 1 | a0001c0002t0001g0256 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.5809-32C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 31/46 | chr5 | 37027327 | ||||||
| chr5:37027474
|
G | GT | 12 | a0001c0001t0001g0009a0001c0001t0001g0062a0001c0001t0001g0113others(9): Show | 12 | HG02109.hp1 HG02145.hp1 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.5862+75dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37027474 | |||||
| chr5:37027603
|
G | GT | 78 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0019others(75): Show | 78 | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(75): Show |
intron_variant | MODIFIER | c.5862+216dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37027603 | |||||
| chr5:37027603
|
G | GTT | 66 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0028others(63): Show | 68 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(65): Show |
intron_variant | MODIFIER | c.5862+215_5862+216d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37027603 | |||||
| chr5:37027603
|
G | GTTT | 25 | a0001c0001t0001g0146a0001c0001t0001g0222a0001c0001t0001g0223others(22): Show | 25 | HG00544.hp2 HG00642.hp1 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.5862+214_5862+216d others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37027603 | |||||
| chr5:37027603
|
GT | G | 19 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(16): Show | 19 | HG01891.hp2 HG02055.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.5862+216delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37027603 | |||||
| chr5:37028333
|
C | CT | 16 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(13): Show | 16 | HG00099.hp1 HG00558.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.5862+942dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37028333 | |||||
| chr5:37028333
|
C | CTT | 172 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(169): Show | 174 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(171): Show |
intron_variant | MODIFIER | c.5862+941_5862+942d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37028333 | |||||
| chr5:37028333
|
C | CTTT | 38 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0141others(35): Show | 38 | HG01175.hp2 HG01192.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.5862+940_5862+942d others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37028333 | |||||
| chr5:37028333
|
C | CTTTT | 8 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0006t0001g0320others(5): Show | 8 | HG01346.hp2 HG02451.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.5862+939_5862+942d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37028333 | |||||
| chr5:37028455
|
C | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.5862+1043C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028455 | ||||||
| chr5:37028580
|
A | T | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.5862+1168A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028580 | ||||||
| chr5:37028645
|
T | C | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5862+1233T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028645 | ||||||
| chr5:37028695
|
T | C | 6 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0179others(3): Show | 6 | HG02258.hp1 HG02809.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.5862+1283T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028695 | ||||||
| chr5:37028698
|
CATCT | C | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.5862+1295_5862+129 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37028698 | |||||
| chr5:37028728
|
T | A | 1 | a0001c0001t0001g0224 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.5862+1316T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028728 | ||||||
| chr5:37028903
|
C | G | 2 | a0001c0001t0001g0183a0001c0001t0001g0237 | 2 | HG02630.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.5862+1491C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37028903 | ||||||
| chr5:37029262
|
A | G | 9 | a0001c0002t0001g0242a0001c0002t0001g0243a0001c0002t0001g0250others(6): Show | 9 | NA18960.hp1 NA18983.hp2 NA18990.hp2 others(6): Show |
intron_variant | MODIFIER | c.5862+1850A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37029262 | ||||||
| chr5:37029332
|
A | G | 1 | a0001c0001t0001g0026 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.5862+1920A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37029332 | ||||||
| chr5:37029341
|
A | G | 6 | a0001c0006t0001g0320a0001c0006t0002g0316a0001c0006t0002g0318others(3): Show | 6 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.5862+1929A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37029341 | ||||||
| chr5:37029533
|
G | A | 2 | a0001c0001t0001g0093a0010c0013t0001g0094 | 2 | HG01175.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.5862+2121G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37029533 | ||||||
| chr5:37029783
|
A | C | 41 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.5862+2371A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37029783 | ||||||
| chr5:37030095
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.5862+2683T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030095 | ||||||
| chr5:37030134
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5862+2722G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030134 | ||||||
| chr5:37030247
|
C | T | 41 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(38): Show | 43 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.5862+2835C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030247 | ||||||
| chr5:37030309
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.5862+2897A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030309 | ||||||
| chr5:37030318
|
T | C | 1 | a0001c0002t0001g0294 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.5862+2906T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030318 | ||||||
| chr5:37030608
|
G | A | 1 | a0002c0003t0001g0132 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.5862+3196G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030608 | ||||||
| chr5:37030698
|
T | C | 16 | a0001c0001t0001g0325a0001c0004t0001g0173a0001c0004t0001g0174others(13): Show | 16 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(13): Show |
intron_variant | MODIFIER | c.5862+3286T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030698 | ||||||
| chr5:37030743
|
T | C | 1 | a0002c0003t0001g0161 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5862+3331T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030743 | ||||||
| chr5:37030756
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0016t0001g0003 | 3 | HG02055.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5862+3344A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37030756 | ||||||
| chr5:37030919
|
C | CT | 17 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0059others(14): Show | 17 | HG00323.hp1 HG00544.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.5862+3531dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37030919 | |||||
| chr5:37030919
|
CT | C | 80 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(77): Show | 82 | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.5862+3531delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37030919 | |||||
| chr5:37030919
|
CTT | C | 63 | a0001c0001t0001g0154a0001c0002t0001g0114a0001c0002t0001g0115others(60): Show | 63 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.5862+3530_5862+353 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37030919 | |||||
| chr5:37030919
|
CTTT | C | 7 | a0001c0002t0001g0260a0001c0002t0001g0284a0001c0006t0002g0316others(4): Show | 7 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5862+3529_5862+353 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37030919 | |||||
| chr5:37030919
|
CTTTTT | C | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(4): Show | 7 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.5862+3527_5862+353 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37030919 | |||||
| chr5:37031213
|
A | T | 229 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(226): Show | 231 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(228): Show |
intron_variant | MODIFIER | c.5862+3801A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031213 | ||||||
| chr5:37031314
|
A | G | 71 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(68): Show | 71 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.5862+3902A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031314 | ||||||
| chr5:37031591
|
G | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG02055.hp1 HG03041.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.5862+4179G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031591 | ||||||
| chr5:37031618
|
A | C | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5862+4206A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031618 | ||||||
| chr5:37031638
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.5862+4226A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031638 | ||||||
| chr5:37031721
|
A | G | 3 | a0002c0003t0001g0136a0002c0003t0001g0137a0002c0003t0001g0138 | 3 | HG01891.hp1 HG02486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5862+4309A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37031721 | ||||||
| chr5:37032162
|
T | C | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.5863-4217T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032162 | ||||||
| chr5:37032196
|
C | T | 1 | a0001c0001t0001g0184 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5863-4183C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032196 | ||||||
| chr5:37032238
|
T | C | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.5863-4141T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032238 | ||||||
| chr5:37032386
|
C | CGT | 28 | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0038others(25): Show | 28 | HG00639.hp1 HG00673.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.5863-3942_5863-394 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
C | CGTGT | 28 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0025others(25): Show | 28 | HG00099.hp2 HG00558.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.5863-3944_5863-394 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
C | CGTGTGT | 6 | a0001c0001t0001g0027a0001c0001t0001g0044a0002c0003t0001g0122others(3): Show | 6 | HG00673.hp2 HG03942.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.5863-3946_5863-394 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
C | CGTGTGTG others(3): Show |
4 | a0001c0001t0001g0016a0001c0001t0001g0061a0002c0003t0001g0128others(1): Show | 4 | HG00544.hp1 NA18952.hp1 NA18987.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-3950_5863-394 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
C | CGTGTGTG others(5): Show |
1 | a0002c0003t0001g0323 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.5863-3952_5863-394 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGT | C | 35 | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0022others(32): Show | 35 | HG00099.hp1 HG00408.hp2 HG00735.hp1 others(32): Show |
intron_variant | MODIFIER | c.5863-3942_5863-394 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGT | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0031others(37): Show | 40 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(37): Show |
intron_variant | MODIFIER | c.5863-3944_5863-394 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGT | C | 57 | a0001c0001t0001g0001a0001c0001t0001g0084a0001c0001t0001g0111others(54): Show | 59 | HG00323.hp1 HG00423.hp2 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.5863-3946_5863-394 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(1): Show |
C | 38 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0091others(35): Show | 38 | HG00558.hp1 HG00621.hp1 HG00733.hp2 others(35): Show |
intron_variant | MODIFIER | c.5863-3948_5863-394 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(3): Show |
C | 27 | a0001c0001t0001g0012a0001c0001t0001g0154a0001c0001t0001g0156others(24): Show | 27 | HG00733.hp1 HG01071.hp2 HG01361.hp1 others(24): Show |
intron_variant | MODIFIER | c.5863-3950_5863-394 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(5): Show |
C | 5 | a0001c0001t0001g0181a0001c0001t0001g0183a0001c0001t0001g0234others(2): Show | 5 | HG02155.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.5863-3952_5863-394 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(7): Show |
C | 14 | a0001c0001t0001g0221a0001c0004t0001g0173a0001c0004t0001g0174others(11): Show | 14 | HG01884.hp1 HG02145.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.5863-3954_5863-394 others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(9): Show |
C | 9 | a0001c0001t0001g0007a0001c0001t0001g0167a0001c0001t0001g0169others(6): Show | 9 | HG01109.hp2 HG01243.hp1 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.5863-3956_5863-394 others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032386
|
CGTGTGTG others(11): Show |
C | 5 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(2): Show | 5 | HG02055.hp1 HG02055.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.5863-3958_5863-394 others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032386 | |||||
| chr5:37032582
|
C | A | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5863-3797C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032582 | ||||||
| chr5:37032615
|
A | C | 2 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | HG02818.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.5863-3764A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032615 | ||||||
| chr5:37032817
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.5863-3562C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032817 | ||||||
| chr5:37032853
|
CTT | C | 6 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0161others(3): Show | 6 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.5863-3523_5863-352 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37032853 | |||||
| chr5:37032997
|
C | G | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.5863-3382C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37032997 | ||||||
| chr5:37033103
|
A | G | 1 | a0001c0006t0002g0321 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5863-3276A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033103 | ||||||
| chr5:37033123
|
A | G | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.5863-3256A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033123 | ||||||
| chr5:37033141
|
A | G | 3 | a0001c0001t0001g0153a0001c0001t0001g0175a0001c0019t0001g0176 | 3 | HG01192.hp2 HG01243.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.5863-3238A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033141 | ||||||
| chr5:37033406
|
C | T | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.5863-2973C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033406 | ||||||
| chr5:37033528
|
T | A | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5863-2851T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033528 | ||||||
| chr5:37033560
|
T | TA | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.5863-2809dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033560 | |||||
| chr5:37033574
|
T | G | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(4): Show | 7 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.5863-2805T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033574 | ||||||
| chr5:37033578
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.5863-2801A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033578 | ||||||
| chr5:37033619
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5863-2760C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033619 | ||||||
| chr5:37033684
|
A | G | 1 | a0001c0001t0001g0235 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.5863-2695A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033684 | ||||||
| chr5:37033685
|
T | C | 1 | a0001c0001t0001g0206 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.5863-2694T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033685 | ||||||
| chr5:37033685
|
T | TACAC | 29 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(26): Show | 29 | HG01109.hp2 HG01256.hp1 HG02083.hp1 others(26): Show |
intron_variant | MODIFIER | c.5863-2676_5863-267 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACAC | 42 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(39): Show | 44 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.5863-2678_5863-267 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(1): Show |
17 | a0001c0001t0001g0207a0001c0001t0001g0217a0001c0001t0001g0218others(14): Show | 17 | HG00642.hp1 HG01071.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.5863-2680_5863-267 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(3): Show |
7 | a0001c0006t0001g0320a0002c0003t0001g0161a0002c0003t0001g0310others(4): Show | 7 | HG01884.hp1 HG02572.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.5863-2682_5863-267 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(5): Show |
8 | a0002c0003t0001g0117a0002c0003t0001g0118a0002c0003t0001g0159others(5): Show | 8 | HG01109.hp1 HG01257.hp2 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.5863-2684_5863-267 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(15): Show |
1 | a0001c0006t0002g0321 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(21): Show |
1 | a0001c0006t0002g0316 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(32): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACACACA others(23): Show |
1 | a0001c0006t0002g0318 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(34): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033685
|
T | TACGC | 9 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(6): Show | 9 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.5863-2692_5863-269 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033685 | |||||
| chr5:37033705
|
C | CACACACA others(17): Show |
1 | a0001c0001t0001g0008 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(28): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(3): Show |
2 | a0001c0001t0001g0154a0002c0003t0001g0323 | 2 | HG01099.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(7): Show |
3 | a0001c0001t0001g0155a0001c0001t0001g0158a0001c0001t0001g0167 | 3 | HG01243.hp1 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(9): Show |
2 | a0001c0001t0001g0156a0001c0001t0001g0157 | 2 | HG02109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(20): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(15): Show |
1 | a0001c0001t0001g0324 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(26): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(17): Show |
2 | a0001c0001t0001g0007a0001c0001t0001g0168 | 2 | HG03130.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(28): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(1): Show |
5 | a0001c0002t0001g0247a0001c0002t0001g0308a0001c0002t0001g0309others(2): Show | 5 | HG00423.hp1 HG02257.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACACA others(5): Show |
2 | a0001c0001t0001g0169a0001c0001t0001g0325 | 2 | HG02280.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACAT | 38 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(35): Show | 38 | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACATA others(1): Show |
3 | a0001c0002t0001g0279a0001c0002t0001g0287a0001c0002t0001g0288 | 3 | HG02080.hp2 NA18969.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACATA others(3): Show |
1 | a0001c0002t0001g0239 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACACATA others(5): Show |
1 | a0001c0008t0001g0252 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.5863-2673_5863-267 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | CACATATA others(3): Show |
2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.5863-2673_5863-267 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033705
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5863-2674C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033705 | ||||||
| chr5:37033705
|
CAT | C | 60 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(57): Show | 60 | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(57): Show |
intron_variant | MODIFIER | c.5863-2649_5863-264 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033705 | |||||
| chr5:37033707
|
T | C | 111 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(108): Show | 113 | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(110): Show |
intron_variant | MODIFIER | c.5863-2672T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033707 | ||||||
| chr5:37033709
|
T | C | 74 | a0001c0001t0001g0009a0001c0001t0001g0039a0001c0001t0001g0058others(71): Show | 74 | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(71): Show |
intron_variant | MODIFIER | c.5863-2670T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033709 | ||||||
| chr5:37033711
|
T | C | 34 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(31): Show | 34 | HG00673.hp2 HG01192.hp2 HG01243.hp2 others(31): Show |
intron_variant | MODIFIER | c.5863-2668T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033711 | ||||||
| chr5:37033713
|
T | C | 16 | a0001c0001t0001g0171a0001c0001t0001g0180a0001c0004t0002g0196others(13): Show | 16 | HG00673.hp2 HG02145.hp2 HG02165.hp2 others(13): Show |
intron_variant | MODIFIER | c.5863-2666T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033713 | ||||||
| chr5:37033724
|
A | ATTTT | 4 | a0002c0003t0001g0117a0002c0003t0001g0118a0002c0003t0001g0310others(1): Show | 4 | HG01109.hp1 HG01884.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-2654_5863-265 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033724 | |||||
| chr5:37033724
|
A | ATTTTT | 4 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0162others(1): Show | 4 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-2654_5863-265 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033724 | |||||
| chr5:37033724
|
A | T | 2 | a0002c0003t0001g0166a0002c0003t0001g0323 | 2 | HG01099.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.5863-2655A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033724 | ||||||
| chr5:37033725
|
T | G | 1 | a0001c0001t0001g0032 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.5863-2654T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033725 | ||||||
| chr5:37033725
|
TATA | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0042others(1): Show | 4 | HG00735.hp1 HG03710.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.5863-2653_5863-265 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033725 | ||||||
| chr5:37033726
|
A | ATTTT | 4 | a0002c0003t0001g0135a0002c0003t0001g0136a0002c0003t0001g0137others(1): Show | 4 | HG01891.hp1 HG02486.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-2652_5863-265 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033726 | |||||
| chr5:37033726
|
A | ATTTTT | 5 | a0002c0003t0001g0122a0002c0003t0001g0124a0002c0003t0001g0161others(2): Show | 5 | HG02572.hp1 HG02698.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.5863-2652_5863-265 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033726 | |||||
| chr5:37033726
|
A | T | 12 | a0001c0002t0001g0300a0001c0006t0001g0320a0002c0003t0001g0117others(9): Show | 12 | HG01099.hp2 HG01109.hp1 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.5863-2653A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033726 | ||||||
| chr5:37033727
|
TA | T | 3 | a0001c0001t0001g0011a0001c0006t0002g0318a0008c0014t0002g0319 | 3 | HG02572.hp2 HG02970.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.5863-2651delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033727 | ||||||
| chr5:37033727
|
TATA | T | 6 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0063others(3): Show | 6 | HG01346.hp1 HG01516.hp1 HG02027.hp1 others(3): Show |
intron_variant | MODIFIER | c.5863-2651_5863-264 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033727 | ||||||
| chr5:37033728
|
A | ATTTTT | 4 | a0001c0001t0001g0185a0002c0003t0001g0132a0002c0003t0001g0133others(1): Show | 4 | HG00642.hp1 HG02129.hp1 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.5863-2650_5863-264 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033728 | |||||
| chr5:37033728
|
A | ATTTTTTT others(3): Show |
1 | a0002c0003t0001g0139 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5863-2650_5863-264 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033728 | |||||
| chr5:37033728
|
A | T | 36 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0024others(33): Show | 36 | HG00408.hp1 HG01099.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.5863-2651A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033728 | ||||||
| chr5:37033728
|
ATAT | A | 7 | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0073others(4): Show | 7 | NA18950.hp1 NA18953.hp2 NA18961.hp2 others(4): Show |
intron_variant | MODIFIER | c.5863-2649_5863-264 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033728 | |||||
| chr5:37033729
|
TA | T | 17 | a0001c0001t0001g0019a0001c0001t0001g0031a0001c0001t0001g0041others(14): Show | 17 | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(14): Show |
intron_variant | MODIFIER | c.5863-2649delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033729 | ||||||
| chr5:37033730
|
A | AT | 11 | a0001c0001t0001g0030a0001c0002t0001g0257a0001c0002t0001g0260others(8): Show | 11 | HG01256.hp1 HG01891.hp2 HG02004.hp1 others(8): Show |
intron_variant | MODIFIER | c.5863-2629dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033730
|
A | ATATTTTT others(5): Show |
2 | a0002c0003t0001g0123a0002c0003t0001g0126 | 2 | NA19065.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.5863-2648_5863-264 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033730
|
A | ATATTTTT others(6): Show |
9 | a0002c0003t0001g0121a0002c0003t0001g0125a0002c0003t0001g0127others(6): Show | 9 | HG00673.hp2 HG02165.hp2 HG02523.hp2 others(6): Show |
intron_variant | MODIFIER | c.5863-2648_5863-264 others(17): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033730
|
A | ATATTTTT others(7): Show |
1 | a0002c0003t0001g0131 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.5863-2648_5863-264 others(18): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033730
|
A | ATTTTTTT others(5): Show |
1 | a0002c0003t0001g0312 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5863-2640_5863-262 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033730
|
A | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(134): Show | 137 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.5863-2649A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033730 | ||||||
| chr5:37033730
|
AT | A | 29 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(26): Show | 31 | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(28): Show |
intron_variant | MODIFIER | c.5863-2629delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37033730 | |||||
| chr5:37033731
|
T | TA | 3 | a0001c0001t0001g0235a0001c0001t0001g0325a0001c0002t0001g0279 | 3 | HG02080.hp1 HG03098.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.5863-2648_5863-264 others(5): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033731 | ||||||
| chr5:37033731
|
T | TATA | 3 | a0001c0004t0002g0196a0001c0004t0002g0203a0001c0004t0002g0205 | 3 | HG02145.hp2 HG02895.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.5863-2648_5863-264 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033731 | ||||||
| chr5:37033732
|
T | A | 35 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0147others(32): Show | 35 | HG01109.hp2 HG01243.hp1 HG02015.hp1 others(32): Show |
intron_variant | MODIFIER | c.5863-2647T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033732 | ||||||
| chr5:37033733
|
T | A | 13 | a0001c0001t0001g0153a0001c0001t0001g0175a0001c0001t0001g0177others(10): Show | 13 | HG01192.hp2 HG01243.hp2 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.5863-2646T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033733 | ||||||
| chr5:37033734
|
T | A | 19 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0147others(16): Show | 19 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.5863-2645T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033734 | ||||||
| chr5:37033735
|
T | A | 3 | a0001c0001t0001g0069a0001c0001t0001g0234a0001c0001t0001g0325 | 3 | HG02155.hp1 HG03098.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.5863-2644T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033735 | ||||||
| chr5:37033736
|
T | A | 8 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0035others(5): Show | 8 | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.5863-2643T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033736 | ||||||
| chr5:37033737
|
T | A | 1 | a0001c0001t0001g0325 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5863-2642T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033737 | ||||||
| chr5:37033738
|
T | A | 4 | a0001c0001t0001g0008a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-2641T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033738 | ||||||
| chr5:37033739
|
T | A | 1 | a0001c0001t0001g0325 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5863-2640T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033739 | ||||||
| chr5:37033740
|
T | A | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5863-2639T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033740 | ||||||
| chr5:37033742
|
T | A | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5863-2637T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37033742 | ||||||
| chr5:37034200
|
A | G | 2 | a0001c0002t0001g0302a0001c0002t0001g0303 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.5863-2179A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37034200 | ||||||
| chr5:37034805
|
T | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.5863-1574T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37034805 | ||||||
| chr5:37034860
|
G | A | 1 | a0002c0003t0001g0164 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.5863-1519G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37034860 | ||||||
| chr5:37034890
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | HG01261.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.5863-1489G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37034890 | ||||||
| chr5:37035011
|
C | T | 1 | a0002c0003t0001g0118 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.5863-1368C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035011 | ||||||
| chr5:37035046
|
A | G | 6 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0229others(3): Show | 6 | HG01361.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.5863-1333A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035046 | ||||||
| chr5:37035151
|
C | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.5863-1228C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035151 | ||||||
| chr5:37035790
|
A | G | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.5863-589A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035790 | ||||||
| chr5:37035793
|
T | C | 4 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0170others(1): Show | 4 | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.5863-586T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035793 | ||||||
| chr5:37035953
|
G | A | 2 | a0001c0001t0001g0064a0010c0013t0001g0094 | 2 | HG00140.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.5863-426G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37035953 | ||||||
| chr5:37036347
|
G | A | 1 | a0001c0001t0001g0214 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5863-32G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37036347 | ||||||
| chr5:37036347
|
G | GTATA | 13 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.5863-14_5863-11dup others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37036347 | |||||
| chr5:37036347
|
G | GTGTATAT others(5): Show |
3 | a0001c0006t0002g0316a0001c0006t0002g0318a0006c0018t0001g0317 | 3 | HG02615.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.5863-31_5863-30ins others(12): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37036347 | |||||
| chr5:37036347
|
G | GTGTATAT others(7): Show |
1 | a0001c0006t0002g0321 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5863-31_5863-30ins others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37036347 | |||||
| chr5:37036347
|
GTA | G | 199 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(196): Show | 201 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(198): Show |
intron_variant | MODIFIER | c.5863-12_5863-11del others(2): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr5 | 37036347 | |||||
| chr5:37036349
|
A | G | 1 | a0001c0001t0001g0214 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5863-30A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 32/46 | chr5 | 37036349 | ||||||
| chr5:37036681
|
T | C | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5971+194T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37036681 | ||||||
| chr5:37036692
|
T | C | 2 | a0001c0002t0001g0261a0001c0002t0001g0286 | 2 | HG02083.hp1 HG02129.hp2 |
intron_variant | MODIFIER | c.5971+205T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37036692 | ||||||
| chr5:37036776
|
A | G | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.5971+289A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37036776 | ||||||
| chr5:37037112
|
G | A | 2 | a0001c0002t0001g0308a0001c0002t0001g0309 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.5971+625G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037112 | ||||||
| chr5:37037116
|
G | A | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.5971+629G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037116 | ||||||
| chr5:37037127
|
C | G | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.5971+640C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037127 | ||||||
| chr5:37037183
|
T | G | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5971+696T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037183 | ||||||
| chr5:37037242
|
A | G | 224 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(221): Show | 226 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(223): Show |
intron_variant | MODIFIER | c.5971+755A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037242 | ||||||
| chr5:37037261
|
G | A | 3 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312 | 3 | HG01884.hp1 HG02723.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.5971+774G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037261 | ||||||
| chr5:37037320
|
A | G | 1 | a0001c0001t0001g0184 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5971+833A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037320 | ||||||
| chr5:37037369
|
CAG | C | 3 | a0001c0002t0001g0243a0001c0002t0001g0258a0001c0002t0001g0265 | 3 | NA18994.hp1 NA19004.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.5971+885_5971+886d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37037369 | |||||
| chr5:37037392
|
A | AAT | 5 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0002t0001g0253others(2): Show | 5 | HG00621.hp1 HG02055.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.5971+920_5971+921d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37037392 | |||||
| chr5:37037394
|
T | A | 1 | a0001c0001t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.5971+907T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037394 | ||||||
| chr5:37037409
|
G | A | 1 | a0001c0001t0001g0002 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5971+922G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037409 | ||||||
| chr5:37037409
|
G | GTA | 3 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0002t0001g0255 | 3 | HG01074.hp1 NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.5971+938_5971+939d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37037409 | |||||
| chr5:37037411
|
A | G | 17 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(14): Show | 17 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.5971+924A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037411 | ||||||
| chr5:37037558
|
A | G | 1 | a0001c0001t0001g0081 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.5972-1044A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037558 | ||||||
| chr5:37037691
|
T | C | 1 | a0001c0001t0001g0184 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5972-911T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037691 | ||||||
| chr5:37037729
|
G | T | 1 | a0001c0020t0001g0267 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.5972-873G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37037729 | ||||||
| chr5:37037984
|
CT | C | 166 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(163): Show | 168 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(165): Show |
intron_variant | MODIFIER | c.5972-596delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37037984 | |||||
| chr5:37037984
|
CTT | C | 10 | a0001c0001t0001g0144a0001c0001t0001g0154a0001c0002t0001g0288others(7): Show | 10 | HG01257.hp1 HG01891.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.5972-597_5972-596d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37037984 | |||||
| chr5:37038006
|
TA | T | 38 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(35): Show | 38 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.5972-593delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37038006 | |||||
| chr5:37038065
|
A | G | 7 | a0001c0001t0001g0026a0001c0001t0001g0055a0001c0001t0001g0056others(4): Show | 7 | HG00639.hp1 HG01256.hp2 NA18993.hp2 others(4): Show |
intron_variant | MODIFIER | c.5972-537A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038065 | ||||||
| chr5:37038075
|
G | C | 1 | a0001c0001t0001g0142 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.5972-527G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038075 | ||||||
| chr5:37038130
|
C | T | 55 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(52): Show | 55 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(52): Show |
intron_variant | MODIFIER | c.5972-472C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038130 | ||||||
| chr5:37038150
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5972-452G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038150 | ||||||
| chr5:37038204
|
G | T | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5972-398G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038204 | ||||||
| chr5:37038342
|
A | T | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.5972-260A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038342 | ||||||
| chr5:37038370
|
C | T | 3 | a0002c0003t0001g0310a0002c0003t0001g0311a0002c0003t0001g0312 | 3 | HG01884.hp1 HG02723.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.5972-232C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | chr5 | 37038370 | ||||||
| chr5:37038415
|
A | ATATG | 225 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(222): Show | 227 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
intron_variant | MODIFIER | c.5972-186_5972-185i others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr5 | 37038415 | |||||
| chr5:37038766
|
A | T | 1 | a0001c0011t0001g0078 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.6108+28A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37038766 | ||||||
| chr5:37038870
|
T | C | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.6108+132T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37038870 | ||||||
| chr5:37038906
|
A | C | 1 | a0001c0001t0001g0002 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6108+168A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37038906 | ||||||
| chr5:37039144
|
C | T | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.6108+406C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039144 | ||||||
| chr5:37039154
|
A | G | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.6108+416A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039154 | ||||||
| chr5:37039498
|
G | A | 1 | a0001c0001t0001g0027 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.6108+760G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039498 | ||||||
| chr5:37039523
|
G | A | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.6108+785G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039523 | ||||||
| chr5:37039587
|
A | G | 1 | a0001c0001t0001g0043 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.6108+849A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039587 | ||||||
| chr5:37039646
|
T | C | 41 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.6108+908T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039646 | ||||||
| chr5:37039714
|
T | C | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.6108+976T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039714 | ||||||
| chr5:37039901
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.6108+1163T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37039901 | ||||||
| chr5:37040248
|
T | C | 42 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(39): Show | 42 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(39): Show |
intron_variant | MODIFIER | c.6108+1510T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37040248 | ||||||
| chr5:37040436
|
A | G | 27 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(24): Show | 27 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.6108+1698A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37040436 | ||||||
| chr5:37040679
|
A | G | 2 | a0001c0001t0001g0168a0001c0001t0001g0324 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6108+1941A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37040679 | ||||||
| chr5:37040852
|
C | A | 74 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0002t0001g0068others(71): Show | 74 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.6108+2114C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37040852 | ||||||
| chr5:37041205
|
G | A | 1 | a0001c0006t0001g0320 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.6108+2467G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041205 | ||||||
| chr5:37041252
|
G | GT | 84 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0014others(81): Show | 84 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(81): Show |
intron_variant | MODIFIER | c.6108+2543dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTT | 25 | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0056others(22): Show | 25 | HG00639.hp1 HG01175.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.6108+2542_6108+254 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTT | 28 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0072others(25): Show | 28 | HG00558.hp1 HG01071.hp2 HG01516.hp2 others(25): Show |
intron_variant | MODIFIER | c.6108+2541_6108+254 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTT | 27 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(24): Show | 27 | HG00423.hp2 HG00544.hp2 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.6108+2540_6108+254 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTTT | 8 | a0001c0001t0001g0001a0001c0001t0001g0214a0001c0004t0001g0174others(5): Show | 10 | HG00733.hp2 HG01123.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.6108+2539_6108+254 others(9): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTTTT | 6 | a0001c0001t0001g0234a0001c0004t0001g0173a0001c0004t0002g0194others(3): Show | 6 | HG01109.hp2 HG02155.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.6108+2538_6108+254 others(10): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTTTTT others(3): Show |
3 | a0001c0001t0001g0188a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG01346.hp2 HG02922.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.6108+2534_6108+254 others(14): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTTTTT others(4): Show |
1 | a0001c0001t0001g0186 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6108+2533_6108+254 others(15): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
G | GTTTTTTT others(5): Show |
2 | a0001c0001t0001g0187a0001c0001t0001g0189 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.6108+2532_6108+254 others(16): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
GT | G | 12 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0091others(9): Show | 12 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.6108+2543delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041252
|
GTTTTTTT others(4): Show |
G | 2 | a0001c0004t0002g0201a0001c0004t0002g0205 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.6108+2533_6108+254 others(15): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041252 | |||||
| chr5:37041491
|
C | T | 98 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(95): Show | 98 | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.6108+2753C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041491 | ||||||
| chr5:37041726
|
G | A | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.6109-2621G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041726 | ||||||
| chr5:37041791
|
C | T | 21 | a0002c0003t0001g0116a0002c0003t0001g0117a0002c0003t0001g0118others(18): Show | 21 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.6109-2556C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041791 | ||||||
| chr5:37041792
|
G | A | 17 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(14): Show | 17 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.6109-2555G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041792 | ||||||
| chr5:37041832
|
C | T | 25 | a0001c0001t0001g0006a0001c0001t0001g0183a0001c0001t0001g0185others(22): Show | 25 | HG01257.hp2 HG01346.hp2 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.6109-2515C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041832 | ||||||
| chr5:37041833
|
G | A | 1 | a0002c0003t0001g0139 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.6109-2514G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041833 | ||||||
| chr5:37041870
|
A | AT | 82 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(79): Show | 84 | HG00423.hp2 HG00544.hp2 HG00639.hp2 others(81): Show |
intron_variant | MODIFIER | c.6109-2463dupT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041870 | |||||
| chr5:37041870
|
AT | A | 41 | a0001c0001t0001g0185a0001c0002t0001g0296a0001c0006t0001g0320others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.6109-2463delT | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37041870 | |||||
| chr5:37041916
|
A | G | 42 | a0001c0002t0001g0280a0001c0002t0001g0289a0001c0002t0001g0290others(39): Show | 42 | HG00621.hp1 HG00642.hp1 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.6109-2431A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37041916 | ||||||
| chr5:37042174
|
C | T | 4 | a0002c0003t0001g0159a0002c0003t0001g0160a0002c0003t0001g0162others(1): Show | 4 | HG01257.hp2 HG01993.hp2 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.6109-2173C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042174 | ||||||
| chr5:37042212
|
G | A | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.6109-2135G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042212 | ||||||
| chr5:37042289
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6109-2058G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042289 | ||||||
| chr5:37042290
|
C | T | 1 | a0002c0003t0001g0122 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.6109-2057C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042290 | ||||||
| chr5:37042500
|
A | C | 1 | a0001c0002t0001g0261 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.6109-1847A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042500 | ||||||
| chr5:37042781
|
G | A | 1 | a0001c0002t0001g0256 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.6109-1566G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042781 | ||||||
| chr5:37042884
|
A | T | 1 | a0001c0002t0001g0276 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.6109-1463A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042884 | ||||||
| chr5:37042893
|
A | ACG | 50 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0144others(47): Show | 52 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.6109-1448_6109-144 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37042893 | |||||
| chr5:37042899
|
G | GCA | 23 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 23 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.6109-1425_6109-142 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37042899 | |||||
| chr5:37042899
|
G | GCACA | 4 | a0001c0001t0001g0168a0001c0001t0001g0183a0001c0001t0001g0237others(1): Show | 4 | HG02280.hp1 HG02630.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.6109-1427_6109-142 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37042899 | |||||
| chr5:37042899
|
GCACA | G | 5 | a0001c0001t0001g0113a0001c0006t0002g0316a0001c0006t0002g0318others(2): Show | 5 | HG02109.hp1 HG02451.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.6109-1427_6109-142 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37042899 | |||||
| chr5:37042901
|
A | G | 13 | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0029others(10): Show | 13 | HG00544.hp1 HG00558.hp1 HG00642.hp1 others(10): Show |
intron_variant | MODIFIER | c.6109-1446A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042901 | ||||||
| chr5:37042931
|
T | C | 1 | a0001c0002t0001g0286 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6109-1416T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37042931 | ||||||
| chr5:37043052
|
A | G | 11 | a0001c0001t0001g0006a0001c0001t0001g0183a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02258.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.6109-1295A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043052 | ||||||
| chr5:37043148
|
T | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.6109-1199T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043148 | ||||||
| chr5:37043255
|
C | T | 1 | a0001c0001t0001g0099 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.6109-1092C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043255 | ||||||
| chr5:37043293
|
G | T | 70 | a0001c0002t0001g0068a0001c0002t0001g0114a0001c0002t0001g0115others(67): Show | 70 | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.6109-1054G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043293 | ||||||
| chr5:37043328
|
G | GACCA | 4 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0053others(1): Show | 4 | HG00099.hp2 HG02683.hp1 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.6109-1018_6109-101 others(8): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37043328 | |||||
| chr5:37043433
|
CAG | C | 9 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.6109-913_6109-912d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043433 | ||||||
| chr5:37043526
|
CA | C | 218 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(215): Show | 220 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
intron_variant | MODIFIER | c.6109-808delA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr5 | 37043526 | |||||
| chr5:37043618
|
C | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0052 | 2 | HG00408.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.6109-729C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043618 | ||||||
| chr5:37043633
|
G | T | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.6109-714G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043633 | ||||||
| chr5:37043717
|
C | T | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.6109-630C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043717 | ||||||
| chr5:37043804
|
G | A | 2 | a0003c0005t0001g0105a0003c0005t0001g0106 | 2 | HG02559.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.6109-543G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043804 | ||||||
| chr5:37043842
|
A | G | 1 | a0001c0002t0001g0281 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.6109-505A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043842 | ||||||
| chr5:37043882
|
C | G | 1 | a0001c0001t0001g0235 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.6109-465C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37043882 | ||||||
| chr5:37044214
|
C | T | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6109-133C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 34/46 | chr5 | 37044214 | ||||||
| chr5:37044829
|
A | G | 1 | a0001c0001t0001g0063 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.6343+100A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 36/46 | chr5 | 37044829 | ||||||
| chr5:37045125
|
G | T | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6344-318G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 36/46 | chr5 | 37045125 | ||||||
| chr5:37045661
|
T | A | 14 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(11): Show | 14 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6498+64T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 37/46 | chr5 | 37045661 | ||||||
| chr5:37045679
|
A | T | 1 | a0001c0001t0001g0184 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.6498+82A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 37/46 | chr5 | 37045679 | ||||||
| chr5:37045739
|
A | G | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.6498+142A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 37/46 | chr5 | 37045739 | ||||||
| chr5:37045879
|
A | T | 1 | a0001c0001t0001g0315 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6499-230A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 37/46 | chr5 | 37045879 | ||||||
| chr5:37045886
|
T | C | 1 | a0001c0001t0001g0224 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.6499-223T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 37/46 | chr5 | 37045886 | ||||||
| chr5:37046375
|
A | G | 1 | a0001c0002t0001g0259 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.6589+176A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37046375 | ||||||
| chr5:37046524
|
A | G | 226 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(223): Show | 228 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(225): Show |
intron_variant | MODIFIER | c.6589+325A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37046524 | ||||||
| chr5:37046964
|
A | G | 11 | a0001c0001t0001g0006a0001c0001t0001g0183a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02258.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.6589+765A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37046964 | ||||||
| chr5:37047096
|
A | T | 10 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(7): Show | 10 | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.6589+897A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37047096 | ||||||
| chr5:37047287
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.6589+1088T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37047287 | ||||||
| chr5:37047430
|
C | A | 1 | a0001c0001t0001g0064 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.6590-1072C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37047430 | ||||||
| chr5:37047798
|
A | G | 42 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(39): Show | 42 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(39): Show |
intron_variant | MODIFIER | c.6590-704A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37047798 | ||||||
| chr5:37047809
|
T | C | 2 | a0001c0001t0001g0077a0001c0011t0001g0078 | 2 | NA19056.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.6590-693T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37047809 | ||||||
| chr5:37048001
|
A | T | 1 | a0001c0002t0001g0289 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.6590-501A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37048001 | ||||||
| chr5:37048240
|
C | T | 1 | a0001c0004t0001g0173 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6590-262C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37048240 | ||||||
| chr5:37048250
|
C | T | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6590-252C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 38/46 | chr5 | 37048250 | ||||||
| chr5:37048777
|
G | A | 2 | a0001c0001t0001g0206a0001c0001t0001g0235 | 2 | HG02015.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.6763+102G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 39/46 | chr5 | 37048777 | ||||||
| chr5:37048946
|
G | GAC | 37 | a0001c0001t0001g0172a0001c0006t0001g0320a0001c0008t0001g0252others(34): Show | 37 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.6764-142_6764-141d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr5 | 37048946 | |||||
| chr5:37048946
|
G | GACAC | 21 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(18): Show | 21 | HG01109.hp2 HG01257.hp2 HG01993.hp2 others(18): Show |
intron_variant | MODIFIER | c.6764-144_6764-141d others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr5 | 37048946 | |||||
| chr5:37048986
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.6764-125G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 39/46 | chr5 | 37048986 | ||||||
| chr5:37049670
|
G | T | 1 | a0002c0003t0001g0120 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.6954+369G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37049670 | ||||||
| chr5:37049776
|
C | T | 1 | a0001c0001t0001g0103 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.6954+475C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37049776 | ||||||
| chr5:37049901
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.6954+600T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37049901 | ||||||
| chr5:37050240
|
G | A | 1 | a0001c0002t0001g0243 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.6954+939G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050240 | ||||||
| chr5:37050258
|
G | A | 41 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.6954+957G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050258 | ||||||
| chr5:37050293
|
G | A | 1 | a0002c0003t0001g0119 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.6954+992G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050293 | ||||||
| chr5:37050479
|
C | CA | 51 | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0074others(48): Show | 51 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(48): Show |
intron_variant | MODIFIER | c.6954+1197dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr5 | 37050479 | |||||
| chr5:37050479
|
C | CAA | 6 | a0002c0003t0001g0125a0002c0003t0001g0136a0002c0003t0001g0137others(3): Show | 6 | HG01891.hp1 HG02300.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.6954+1196_6954+119 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr5 | 37050479 | |||||
| chr5:37050527
|
C | T | 2 | a0003c0005t0001g0108a0003c0005t0001g0109 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.6954+1226C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050527 | ||||||
| chr5:37050584
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.6955-1195A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050584 | ||||||
| chr5:37050979
|
G | A | 1 | a0001c0001t0001g0230 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.6955-800G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37050979 | ||||||
| chr5:37051144
|
C | A | 39 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(36): Show | 39 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.6955-635C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051144 | ||||||
| chr5:37051276
|
T | C | 1 | a0001c0001t0001g0064 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.6955-503T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051276 | ||||||
| chr5:37051326
|
C | T | 2 | a0001c0002t0001g0114a0001c0002t0001g0115 | 2 | HG00408.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.6955-453C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051326 | ||||||
| chr5:37051536
|
ATTTACAA others(8): Show |
A | 2 | a0001c0002t0001g0275a0001c0002t0001g0288 | 2 | HG02080.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.6955-238_6955-224d others(17): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr5 | 37051536 | |||||
| chr5:37051555
|
A | T | 2 | a0001c0002t0001g0275a0001c0002t0001g0288 | 2 | HG02080.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.6955-224A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051555 | ||||||
| chr5:37051611
|
G | A | 3 | a0001c0004t0002g0196a0001c0004t0002g0199a0001c0004t0002g0203 | 3 | HG02145.hp2 HG02818.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.6955-168G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051611 | ||||||
| chr5:37051657
|
C | G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6955-122C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051657 | ||||||
| chr5:37051755
|
C | T | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.6955-24C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 40/46 | chr5 | 37051755 | ||||||
| chr5:37051985
|
ATG | A | 3 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | HG02896.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.7062+101_7062+102d others(4): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr5 | 37051985 | |||||
| chr5:37052182
|
C | T | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.7063-184C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 41/46 | chr5 | 37052182 | ||||||
| chr5:37052719
|
A | T | 10 | a0001c0001t0001g0183a0001c0001t0001g0185a0001c0001t0001g0186others(7): Show | 10 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.7263+153A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37052719 | ||||||
| chr5:37052764
|
G | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.7263+198G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37052764 | ||||||
| chr5:37052876
|
G | A | 3 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0076 | 3 | NA18953.hp2 NA19054.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.7263+310G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37052876 | ||||||
| chr5:37052978
|
CTGTATAG others(13): Show |
C | 3 | a0001c0002t0001g0114a0001c0002t0001g0115a0001c0002t0001g0253 | 3 | HG00408.hp1 HG01975.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.7263+426_7263+445d others(22): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37052978 | |||||
| chr5:37053015
|
C | T | 48 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0143others(45): Show | 50 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(47): Show |
intron_variant | MODIFIER | c.7263+449C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053015 | ||||||
| chr5:37053044
|
C | A | 1 | a0002c0003t0001g0116 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.7263+478C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053044 | ||||||
| chr5:37053205
|
A | G | 1 | a0001c0001t0001g0213 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.7263+639A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053205 | ||||||
| chr5:37053328
|
AATATG | A | 40 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(37): Show | 40 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.7263+766_7263+770d others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37053328 | |||||
| chr5:37053638
|
A | T | 1 | a0001c0002t0001g0295 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.7263+1072A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053638 | ||||||
| chr5:37053686
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01346.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.7263+1120C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053686 | ||||||
| chr5:37053723
|
A | G | 2 | a0001c0001t0001g0032a0002c0003t0001g0139 | 2 | HG02683.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.7263+1157A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053723 | ||||||
| chr5:37053795
|
A | G | 1 | a0001c0001t0001g0112 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.7263+1229A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053795 | ||||||
| chr5:37053835
|
A | G | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.7263+1269A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053835 | ||||||
| chr5:37053851
|
T | C | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7263+1285T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053851 | ||||||
| chr5:37053874
|
G | A | 223 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(220): Show | 225 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
intron_variant | MODIFIER | c.7263+1308G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053874 | ||||||
| chr5:37053881
|
C | T | 228 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(225): Show | 230 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(227): Show |
intron_variant | MODIFIER | c.7263+1315C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053881 | ||||||
| chr5:37053936
|
G | A | 10 | a0001c0001t0001g0183a0001c0001t0001g0185a0001c0001t0001g0186others(7): Show | 10 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.7263+1370G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053936 | ||||||
| chr5:37053950
|
C | T | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7263+1384C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053950 | ||||||
| chr5:37053991
|
T | C | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.7263+1425T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37053991 | ||||||
| chr5:37054068
|
C | T | 1 | a0001c0002t0001g0286 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.7263+1502C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054068 | ||||||
| chr5:37054183
|
G | A | 10 | a0001c0001t0001g0183a0001c0001t0001g0185a0001c0001t0001g0186others(7): Show | 10 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.7263+1617G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054183 | ||||||
| chr5:37054195
|
C | CA | 12 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0084others(9): Show | 12 | HG02055.hp2 HG02451.hp1 HG02572.hp2 others(9): Show |
intron_variant | MODIFIER | c.7263+1648dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37054195 | |||||
| chr5:37054232
|
T | C | 10 | a0001c0001t0001g0183a0001c0001t0001g0185a0001c0001t0001g0186others(7): Show | 10 | HG01346.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.7263+1666T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054232 | ||||||
| chr5:37054664
|
A | G | 1 | a0002c0003t0001g0118 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.7263+2098A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054664 | ||||||
| chr5:37054946
|
T | C | 1 | a0001c0001t0001g0032 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.7264-2240T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054946 | ||||||
| chr5:37054970
|
A | T | 1 | a0001c0002t0001g0282 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.7264-2216A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37054970 | ||||||
| chr5:37055068
|
G | T | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7264-2118G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055068 | ||||||
| chr5:37055147
|
G | A | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.7264-2039G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055147 | ||||||
| chr5:37055165
|
A | G | 86 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(83): Show | 88 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(85): Show |
intron_variant | MODIFIER | c.7264-2021A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055165 | ||||||
| chr5:37055222
|
G | A | 1 | a0001c0002t0001g0261 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.7264-1964G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055222 | ||||||
| chr5:37055356
|
T | TA | 21 | a0001c0001t0001g0006a0001c0001t0001g0183a0001c0001t0001g0185others(18): Show | 21 | HG01346.hp2 HG02258.hp2 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.7264-1812dupA | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37055356 | |||||
| chr5:37055356
|
T | TAA | 75 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(72): Show | 77 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(74): Show |
intron_variant | MODIFIER | c.7264-1813_7264-181 others(6): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37055356 | |||||
| chr5:37055356
|
T | TAAA | 17 | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0141others(14): Show | 17 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.7264-1814_7264-181 others(7): Show |
NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr5 | 37055356 | |||||
| chr5:37055411
|
G | T | 1 | a0001c0001t0001g0016 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.7264-1775G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055411 | ||||||
| chr5:37055577
|
A | G | 1 | a0001c0001t0001g0079 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.7264-1609A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055577 | ||||||
| chr5:37055616
|
A | C | 1 | a0001c0002t0001g0264 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.7264-1570A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055616 | ||||||
| chr5:37055877
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.7264-1309G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055877 | ||||||
| chr5:37055904
|
A | G | 1 | a0001c0001t0001g0113 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7264-1282A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055904 | ||||||
| chr5:37055910
|
T | C | 2 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | HG02818.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.7264-1276T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37055910 | ||||||
| chr5:37056105
|
A | G | 41 | a0001c0006t0001g0320a0002c0003t0001g0116a0002c0003t0001g0117others(38): Show | 41 | HG00642.hp1 HG00673.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.7264-1081A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056105 | ||||||
| chr5:37056208
|
C | G | 1 | a0001c0001t0001g0061 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.7264-978C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056208 | ||||||
| chr5:37056498
|
T | A | 15 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0193others(12): Show | 15 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.7264-688T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056498 | ||||||
| chr5:37056499
|
A | G | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.7264-687A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056499 | ||||||
| chr5:37056558
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.7264-628G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056558 | ||||||
| chr5:37056614
|
A | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0183a0001c0001t0001g0185others(8): Show | 11 | HG01346.hp2 HG02258.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.7264-572A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056614 | ||||||
| chr5:37056634
|
T | C | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.7264-552T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056634 | ||||||
| chr5:37056664
|
T | C | 3 | a0001c0001t0001g0207a0001c0001t0001g0217a0001c0001t0001g0218 | 3 | HG01071.hp2 HG01993.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.7264-522T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056664 | ||||||
| chr5:37056901
|
A | T | 1 | a0002c0003t0001g0164 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.7264-285A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056901 | ||||||
| chr5:37056987
|
T | C | 5 | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | NA18968.hp1 NA19012.hp1 NA19063.hp2 others(2): Show |
intron_variant | MODIFIER | c.7264-199T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056987 | ||||||
| chr5:37056992
|
C | T | 1 | a0001c0002t0001g0246 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.7264-194C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37056992 | ||||||
| chr5:37057124
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7264-62G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 42/46 | chr5 | 37057124 | ||||||
| chr5:37057537
|
A | G | 1 | a0001c0002t0001g0256 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.7410+205A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37057537 | ||||||
| chr5:37057564
|
A | G | 1 | a0001c0002t0001g0322 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.7410+232A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37057564 | ||||||
| chr5:37057602
|
G | A | 1 | a0002c0003t0001g0125 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.7410+270G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37057602 | ||||||
| chr5:37057761
|
A | G | 1 | a0001c0001t0001g0113 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7410+429A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37057761 | ||||||
| chr5:37058014
|
A | C | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.7410+682A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058014 | ||||||
| chr5:37058112
|
C | G | 2 | a0001c0004t0002g0201a0001c0004t0002g0205 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.7411-779C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058112 | ||||||
| chr5:37058158
|
C | T | 1 | a0001c0002t0001g0296 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.7411-733C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058158 | ||||||
| chr5:37058254
|
G | A | 16 | a0001c0002t0001g0239a0001c0002t0001g0246a0001c0002t0001g0248others(13): Show | 16 | HG00099.hp1 HG00735.hp2 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.7411-637G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058254 | ||||||
| chr5:37058261
|
C | A | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.7411-630C>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058261 | ||||||
| chr5:37058271
|
C | G | 11 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0153others(8): Show | 11 | HG01192.hp2 HG01243.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.7411-620C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058271 | ||||||
| chr5:37058301
|
A | G | 2 | a0001c0006t0002g0316a0006c0018t0001g0317 | 2 | HG02615.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.7411-590A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058301 | ||||||
| chr5:37058402
|
A | G | 1 | a0002c0003t0001g0313 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.7411-489A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058402 | ||||||
| chr5:37058440
|
T | C | 5 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(2): Show | 5 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.7411-451T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058440 | ||||||
| chr5:37058530
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.7411-361A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058530 | ||||||
| chr5:37058554
|
A | C | 2 | a0001c0004t0002g0193a0001c0004t0002g0204 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7411-337A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 43/46 | chr5 | 37058554 | ||||||
| chr5:37059184
|
T | G | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.7685+19T>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059184 | ||||||
| chr5:37059277
|
C | T | 1 | a0002c0003t0001g0166 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.7685+112C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059277 | ||||||
| chr5:37059282
|
A | C | 6 | a0003c0005t0001g0105a0003c0005t0001g0106a0003c0005t0001g0108others(3): Show | 6 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.7685+117A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059282 | ||||||
| chr5:37059429
|
C | T | 1 | a0002c0003t0001g0124 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.7685+264C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059429 | ||||||
| chr5:37059448
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.7685+283A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059448 | ||||||
| chr5:37059838
|
A | C | 13 | a0001c0004t0001g0173a0001c0004t0001g0174a0001c0004t0002g0194others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.7685+673A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37059838 | ||||||
| chr5:37060012
|
G | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.7686-832G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060012 | ||||||
| chr5:37060016
|
A | C | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | NA18939.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.7686-828A>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060016 | ||||||
| chr5:37060091
|
A | G | 2 | a0001c0001t0001g0010a0001c0001t0001g0238 | 2 | NA18978.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.7686-753A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060091 | ||||||
| chr5:37060141
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.7686-703A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060141 | ||||||
| chr5:37060611
|
C | G | 1 | a0001c0002t0001g0253 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.7686-233C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060611 | ||||||
| chr5:37060637
|
G | A | 1 | a0001c0001t0001g0314 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.7686-207G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060637 | ||||||
| chr5:37060719
|
A | G | 1 | a0001c0001t0001g0054 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.7686-125A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 44/46 | chr5 | 37060719 | ||||||
| chr5:37061057
|
G | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0155others(8): Show | 11 | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.7860+39G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061057 | ||||||
| chr5:37061086
|
G | A | 1 | a0001c0002t0001g0322 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.7860+68G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061086 | ||||||
| chr5:37061159
|
A | G | 227 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(224): Show | 229 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
intron_variant | MODIFIER | c.7860+141A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061159 | ||||||
| chr5:37061318
|
C | T | 1 | a0005c0009t0006g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7860+300C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061318 | ||||||
| chr5:37061336
|
C | T | 7 | a0001c0002t0001g0245a0001c0002t0001g0257a0001c0002t0001g0281others(4): Show | 7 | NA18946.hp1 NA18947.hp2 NA18961.hp1 others(4): Show |
intron_variant | MODIFIER | c.7860+318C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061336 | ||||||
| chr5:37061359
|
C | T | 6 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | HG02257.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.7860+341C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061359 | ||||||
| chr5:37061385
|
A | T | 1 | a0001c0001t0001g0155 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7860+367A>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061385 | ||||||
| chr5:37061422
|
C | T | 4 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(1): Show | 4 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.7860+404C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061422 | ||||||
| chr5:37061760
|
C | T | 1 | a0001c0001t0001g0183 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7860+742C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061760 | ||||||
| chr5:37061953
|
T | A | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.7860+935T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061953 | ||||||
| chr5:37061986
|
C | T | 1 | a0002c0015t0001g0110 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.7860+968C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37061986 | ||||||
| chr5:37062223
|
G | A | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG00639.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.7860+1205G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062223 | ||||||
| chr5:37062276
|
A | G | 2 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | HG02055.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.7860+1258A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062276 | ||||||
| chr5:37062316
|
C | T | 1 | a0001c0002t0001g0322 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.7860+1298C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062316 | ||||||
| chr5:37062334
|
A | G | 42 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0015others(39): Show | 44 | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.7860+1316A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062334 | ||||||
| chr5:37062495
|
G | C | 1 | a0001c0001t0001g0191 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.7861-1295G>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062495 | ||||||
| chr5:37062503
|
G | A | 1 | a0001c0001t0001g0326 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.7861-1287G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062503 | ||||||
| chr5:37062691
|
A | G | 1 | a0001c0001t0001g0111 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.7861-1099A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062691 | ||||||
| chr5:37062785
|
C | T | 1 | a0001c0002t0001g0250 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.7861-1005C>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062785 | ||||||
| chr5:37062869
|
A | G | 13 | a0001c0004t0002g0193a0001c0004t0002g0194a0001c0004t0002g0195others(10): Show | 13 | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.7861-921A>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37062869 | ||||||
| chr5:37063368
|
C | G | 1 | a0001c0001t0001g0095 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.7861-422C>G | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063368 | ||||||
| chr5:37063369
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.7861-421G>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063369 | ||||||
| chr5:37063602
|
T | A | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7861-188T>A | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063602 | ||||||
| chr5:37063603
|
G | T | 1 | a0001c0001t0001g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7861-187G>T | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063603 | ||||||
| chr5:37063686
|
T | C | 5 | a0001c0006t0002g0316a0001c0006t0002g0318a0001c0006t0002g0321others(2): Show | 5 | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.7861-104T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063686 | ||||||
| chr5:37063705
|
T | C | 2 | a0002c0003t0001g0128a0002c0003t0001g0130 | 2 | HG00673.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.7861-85T>C | NIPBL | ENSG00000164190.19 | transcript | ENST00000282516.13 | protein_coding | 45/46 | chr5 | 37063705 |