| geneid | 30011 |
|---|---|
| ensemblid | ENSG00000147010.19 |
| hgncid | 13867 |
| symbol | SH3KBP1 |
| name | SH3 domain containing kinase binding protein 1 |
| refseq_nuc | NM_031892.3 |
| refseq_prot | NP_114098.1 |
| ensembl_nuc | ENST00000397821.8 |
| ensembl_prot | ENSP00000380921.3 |
| mane_status | MANE Select |
| chr | chrX |
| start | 19533977 |
| end | 19887600 |
| strand | - |
| ver | v1.2 |
| region | chrX:19533977-19887600 |
| region5000 | chrX:19528977-19892600 |
| regionname0 | SH3KBP1_chrX_19533977_19887600 |
| regionname5000 | SH3KBP1_chrX_19528977_19892600 |
| 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 | 665 | 199 | 67 | 41 | 63 | 6 | 20 | 48 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0002 | 0/0 | 665 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0003 | 0/0 | 665 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0004 | 0/0 | 665 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0005 | 0/0 | 665 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| 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 | 1998 | 183 | 54 | 39 | 62 | 6 | 20 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0002 | 0/0 | 1998 | 8 | 8 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0003 | 0/0 | 1998 | 5 | 3 | 1 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0004 | 0/0 | 1998 | 2 | 0 | 0 | 2 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0005 | 0/0 | 1998 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0006 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0007 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0008 | 0/0 | 1998 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0009 | 0/0 | 1998 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| c0010 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| 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 | 2731 | 182 | 54 | 37 | 63 | 7 | 19 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0002 | 0/0 | 2730 | 9 | 8 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0003 | 0/0 | 2731 | 2 | 2 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0004 | 0/0 | 2731 | 2 | 0 | 0 | 1 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0005 | 0/0 | 2722 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0006 | 0/0 | 2728 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0007 | 0/0 | 2732 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0008 | 0/0 | 2732 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0009 | 0/0 | 2730 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0010 | 0/0 | 2731 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0011 | 0/0 | 2731 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0012 | 0/0 | 2731 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| t0013 | 0/0 | 2731 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| 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 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0093 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0158 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| 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 | 1998 | 183 | 54 | 39 | 62 | 6 | 20 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0002 | 0/0 | 1998 | 8 | 8 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0003 | 0/0 | 1998 | 5 | 3 | 1 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0006 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0009 | 0/0 | 1998 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0010 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0002c0004 | 0/0 | 1998 | 2 | 0 | 0 | 2 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0003c0005 | 0/0 | 1998 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0004c0008 | 0/0 | 1998 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0005c0007 | 0/0 | 1998 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 4728 | 172 | 49 | 36 | 60 | 6 | 19 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0002 | 0/0 | 4727 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0003 | 0/0 | 4728 | 2 | 2 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0004 | 0/0 | 4728 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0005 | 0/0 | 4719 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0006 | 0/0 | 4725 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0007 | 0/0 | 4729 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0008 | 0/0 | 4729 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0009 | 0/0 | 4727 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0010 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0001t0011 | 0/0 | 4728 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0002t0001 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0002t0002 | 0/0 | 4727 | 6 | 6 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0002t0012 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0003t0001 | 0/0 | 4728 | 2 | 1 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0003t0002 | 0/0 | 4727 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0003t0004 | 0/0 | 4728 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0003t0013 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0006t0001 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0009t0002 | 0/0 | 4727 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0001c0010t0001 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0002c0004t0001 | 0/0 | 4728 | 2 | 0 | 0 | 2 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0003c0005t0001 | 0/0 | 4728 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0004c0008t0001 | 0/0 | 4728 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| a0005c0007t0001 | 0/0 | 4728 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | copy fasta | chrX | 19528977 | 19892600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0093 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0158 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0003g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0004g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0005g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0006g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0007g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0008g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0009g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0001t0011g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0002t0012g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0003t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0003t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0003t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0003t0004g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0003t0013g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0006t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0009t0002g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0001c0010t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0002c0004t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0002c0004t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0003c0005t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0004c0008t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| a0005c0007t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0121 | EUR | GBR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0182 | EUR | FIN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | CHS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | CHS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | CHS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG00738 | hp1 | a0001 | c0001 | t0005 | g0001 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01070 | hp1 | a0001 | c0009 | t0002 | g0009 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0197 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01106 | hp1 | a0001 | c0003 | t0001 | g0051 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PUR | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0135 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0076 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0191 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0024 | EUR | IBS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01517 | hp1 | a0003 | c0005 | t0001 | g0157 | EUR | IBS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01884 | hp1 | a0001 | c0010 | t0001 | g0199 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0065 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0107 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0086 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02055 | hp1 | a0001 | c0001 | t0010 | g0004 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | KHV | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0177 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0066 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02293 | hp2 | a0001 | c0001 | t0011 | g0045 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | PEL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02451 | hp2 | a0005 | c0007 | t0001 | g0166 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0172 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02615 | hp2 | a0001 | c0002 | t0002 | g0178 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0058 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02630 | hp1 | a0001 | c0002 | t0002 | g0188 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02647 | hp1 | a0001 | c0001 | t0003 | g0057 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0147 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0175 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0171 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0181 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02897 | hp1 | a0001 | c0002 | t0002 | g0187 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0046 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0200 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0097 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0053 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03139 | hp1 | a0001 | c0001 | t0009 | g0193 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03195 | hp1 | a0001 | c0003 | t0001 | g0049 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0168 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03239 | hp2 | a0001 | c0001 | t0004 | g0032 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0170 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03486 | hp2 | a0001 | c0003 | t0013 | g0068 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0118 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0109 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | ESN | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03540 | hp2 | a0001 | c0002 | t0001 | g0179 | AFR | GWD | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03579 | hp1 | a0001 | c0006 | t0001 | g0054 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0112 | SAS | STU | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0173 | SAS | PJL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0137 | SAS | BEB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0136 | SAS | BEB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0088 | SAS | BEB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0160 | SAS | STU | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | STU | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0174 | SAS | STU | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0087 | SAS | STU | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | YRI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | CHB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | CHB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | YRI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18906 | hp2 | a0001 | c0002 | t0002 | g0189 | AFR | YRI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18979 | hp1 | a0004 | c0008 | t0001 | g0030 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18989 | hp1 | a0002 | c0004 | t0001 | g0143 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19009 | hp1 | a0001 | c0001 | t0007 | g0127 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | LWK | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | LWK | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | LWK | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19067 | hp1 | a0002 | c0004 | t0001 | g0146 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19089 | hp1 | a0001 | c0001 | t0006 | g0103 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19091 | hp1 | a0001 | c0003 | t0004 | g0180 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | YRI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0201 | AFR | YRI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA20129 | hp1 | a0001 | c0002 | t0002 | g0190 | AFR | ASW | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | ASW | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0152 | EUR | TSI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0075 | EUR | TSI | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | GIH | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01123 | hp1 | a0001 | c0001 | t0008 | g0023 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | CLM | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02486 | hp1 | a0001 | c0003 | t0002 | g0039 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02559 | hp1 | a0001 | c0002 | t0012 | g0186 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0167 | AFR | ACB | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0169 | AFR | MSL | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | USA | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| HG06807 | hp2 | a0001 | c0002 | t0002 | g0202 | AFR | USA | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0093 | REF | REF | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0158 | REF | REF | SH3KBP1_chrX_19528977_19892600 | SH3KBP1 | chrX | 19528977 | 19892600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:19542054
|
G | A | 1 | a0004 | 1 | NA18979.hp1 | missense_variant | MODERATE | c.1763C>T | p.Pro588Leu | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/18 | 2053/4728 | 1763/1998 | 588/665 | chrX | 19542054 | ||
| chrX:19569117
|
C | T | 1 | a0002 | 2 | NA18989.hp1 NA19067.hp1 |
missense_variant | MODERATE | c.1370G>A | p.Arg457His | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/18 | 1660/4728 | 1370/1998 | 457/665 | chrX | 19569117 | ||
| chrX:19569141
|
A | T | 1 | a0005 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.1346T>A | p.Ile449Asn | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/18 | 1636/4728 | 1346/1998 | 449/665 | chrX | 19569141 | ||
| chrX:19588758
|
C | T | 1 | a0003 | 1 | HG01517.hp1 | missense_variant | MODERATE | c.1183G>A | p.Val395Ile | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/18 | 1473/4728 | 1183/1998 | 395/665 | chrX | 19588758 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:19588657
|
C | T | 1 | a0001c0006 | 1 | HG03579.hp1 | synonymous_variant | LOW | c.1284G>A | p.Pro428Pro | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/18 | 1574/4728 | 1284/1998 | 428/665 | chrX | 19588657 | ||
| chrX:19588675
|
C | T | 2 | a0001c0002a0001c0003 | 13 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
synonymous_variant | LOW | c.1266G>A | p.Pro422Pro | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/18 | 1556/4728 | 1266/1998 | 422/665 | chrX | 19588675 | ||
| chrX:19588759
|
G | A | 1 | a0001c0009 | 1 | HG01070.hp1 | synonymous_variant | LOW | c.1182C>T | p.Ser394Ser | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/18 | 1472/4728 | 1182/1998 | 394/665 | chrX | 19588759 | ||
| chrX:19607959
|
C | T | 2 | a0001c0002a0001c0003 | 13 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
synonymous_variant | LOW | c.984G>A | p.Pro328Pro | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/18 | 1274/4728 | 984/1998 | 328/665 | chrX | 19607959 | ||
| chrX:19706944
|
G | A | 1 | a0001c0010 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.327C>T | p.Tyr109Tyr | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/18 | 617/4728 | 327/1998 | 109/665 | chrX | 19706944 | ||
| chrX:19836245
|
G | A | 1 | a0001c0002 | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
synonymous_variant | LOW | c.42C>T | p.His14His | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/18 | 332/4728 | 42/1998 | 14/665 | chrX | 19836245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:19534006
|
CT | C | 1 | a0001c0001t0006 | 1 | NA19089.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2410delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 2410 | chrX | 19534006 | |||||
| chrX:19534113
|
A | AT | 1 | a0001c0001t0008 | 1 | HG01123.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2303dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 2303 | chrX | 19534113 | |||||
| chrX:19534113
|
AT | A | 5 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(2): Show | 10 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2303delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 2303 | chrX | 19534113 | |||||
| chrX:19534126
|
T | C | 1 | a0001c0001t0010 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2291A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 2291 | chrX | 19534126 | |||||
| chrX:19534783
|
G | A | 1 | a0001c0001t0011 | 1 | HG02293.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1634C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 1634 | chrX | 19534783 | |||||
| chrX:19535364
|
C | T | 2 | a0001c0001t0004a0001c0003t0004 | 2 | HG03239.hp2 NA19091.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1053G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 1053 | chrX | 19535364 | |||||
| chrX:19535692
|
A | AT | 1 | a0001c0001t0007 | 1 | NA19009.hp1 | 3_prime_UTR_variant | MODIFIER | c.*724dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 724 | chrX | 19535692 | |||||
| chrX:19535692
|
AT | A | 1 | a0001c0001t0006 | 1 | NA19089.hp1 | 3_prime_UTR_variant | MODIFIER | c.*724delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 724 | chrX | 19535692 | |||||
| chrX:19535900
|
A | G | 1 | a0001c0001t0003 | 2 | HG02622.hp2 HG02647.hp1 |
3_prime_UTR_variant | MODIFIER | c.*517T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 517 | chrX | 19535900 | |||||
| chrX:19535920
|
C | A | 1 | a0001c0003t0013 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*497G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 497 | chrX | 19535920 | |||||
| chrX:19536177
|
T | G | 7 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(4): Show | 12 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*240A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 240 | chrX | 19536177 | |||||
| chrX:19536217
|
GC | G | 1 | a0001c0001t0006 | 1 | NA19089.hp1 | 3_prime_UTR_variant | MODIFIER | c.*199delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 199 | chrX | 19536217 | |||||
| chrX:19536231
|
C | A | 1 | a0001c0003t0013 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*186G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 18/18 | 186 | chrX | 19536231 | |||||
| chrX:19887495
|
TGCTGCTG others(2): Show |
T | 1 | a0001c0001t0005 | 1 | HG00738.hp1 | 5_prime_UTR_variant | MODIFIER | c.-194_-186delGGCAGC others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/18 | 186 | chrX | 19887495 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:19536474
|
T | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1957-16A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19536474 | ||||||
| chrX:19536531
|
C | T | 6 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.1957-73G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19536531 | ||||||
| chrX:19536862
|
T | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(44): Show | 47 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(44): Show |
intron_variant | MODIFIER | c.1957-404A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19536862 | ||||||
| chrX:19537249
|
G | A | 3 | a0001c0001t0001g0120a0001c0001t0001g0128a0001c0001t0001g0150 | 3 | HG02056.hp1 NA18994.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.1956+468C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537249 | ||||||
| chrX:19537302
|
C | G | 1 | a0001c0001t0001g0182 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1956+415G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537302 | ||||||
| chrX:19537365
|
G | A | 1 | a0001c0001t0001g0149 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1956+352C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537365 | ||||||
| chrX:19537463
|
G | GA | 24 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(21): Show | 24 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1956+253dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537463 | ||||||
| chrX:19537463
|
G | GAA | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(41): Show | 44 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(41): Show |
intron_variant | MODIFIER | c.1956+252_1956+253d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537463 | ||||||
| chrX:19537463
|
G | GAAA | 2 | a0001c0001t0001g0008a0001c0001t0001g0048 | 2 | HG02970.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1956+251_1956+253d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537463 | ||||||
| chrX:19537463
|
GA | G | 9 | a0001c0001t0001g0021a0001c0001t0001g0167a0001c0001t0001g0168others(6): Show | 9 | HG01891.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1956+253delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537463 | ||||||
| chrX:19537466
|
A | AG | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1956+250_1956+251i others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537466 | ||||||
| chrX:19537501
|
C | T | 9 | a0001c0001t0002g0003a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.1956+216G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537501 | ||||||
| chrX:19537540
|
A | G | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.1956+177T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 17/17 | chrX | 19537540 | ||||||
| chrX:19537847
|
CTTA | C | 12 | a0001c0001t0002g0003a0001c0001t0004g0032a0001c0002t0002g0178others(9): Show | 12 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.1893-70_1893-68del others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19537847 | ||||||
| chrX:19537884
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1893-104G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19537884 | ||||||
| chrX:19538204
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1893-424A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538204 | ||||||
| chrX:19538273
|
T | C | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(62): Show |
intron_variant | MODIFIER | c.1893-493A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538273 | ||||||
| chrX:19538563
|
T | TTTTA | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(43): Show |
intron_variant | MODIFIER | c.1893-787_1893-784d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538563 | ||||||
| chrX:19538622
|
T | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1893-842A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538622 | ||||||
| chrX:19538689
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1893-909G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538689 | ||||||
| chrX:19538861
|
A | G | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1893-1081T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538861 | ||||||
| chrX:19538955
|
T | C | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.1893-1175A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19538955 | ||||||
| chrX:19539046
|
T | G | 9 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(6): Show | 9 | HG01884.hp1 HG02818.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1893-1266A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19539046 | ||||||
| chrX:19539419
|
A | T | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1893-1639T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19539419 | ||||||
| chrX:19539475
|
GGAA | G | 1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1893-1698_1893-169 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19539475 | ||||||
| chrX:19539509
|
C | T | 1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1893-1729G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19539509 | ||||||
| chrX:19539879
|
G | A | 2 | a0001c0001t0004g0032a0001c0003t0004g0180 | 2 | HG03239.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.1892+2046C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19539879 | ||||||
| chrX:19540005
|
A | G | 88 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(85): Show | 88 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(85): Show |
intron_variant | MODIFIER | c.1892+1920T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540005 | ||||||
| chrX:19540075
|
T | TG | 4 | a0001c0001t0001g0120a0001c0001t0001g0128a0001c0001t0001g0150others(1): Show | 4 | HG02056.hp1 NA18970.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.1892+1849dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540075 | ||||||
| chrX:19540337
|
C | T | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1892+1588G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540337 | ||||||
| chrX:19540527
|
G | C | 88 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(85): Show | 88 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(85): Show |
intron_variant | MODIFIER | c.1892+1398C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540527 | ||||||
| chrX:19540566
|
C | A | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1892+1359G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540566 | ||||||
| chrX:19540733
|
C | T | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1892+1192G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540733 | ||||||
| chrX:19540773
|
T | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | 48 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(45): Show |
intron_variant | MODIFIER | c.1892+1152A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540773 | ||||||
| chrX:19540858
|
G | C | 25 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0175others(22): Show | 25 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.1892+1067C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540858 | ||||||
| chrX:19540867
|
A | G | 2 | a0001c0001t0001g0079a0001c0001t0001g0112 | 2 | HG02738.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1892+1058T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540867 | ||||||
| chrX:19540920
|
C | CT | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1892+1004dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540920 | ||||||
| chrX:19540976
|
A | G | 98 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(95): Show | 98 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(95): Show |
intron_variant | MODIFIER | c.1892+949T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540976 | ||||||
| chrX:19540988
|
C | G | 25 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0175others(22): Show | 25 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.1892+937G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540988 | ||||||
| chrX:19540996
|
C | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1892+929G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19540996 | ||||||
| chrX:19541118
|
T | C | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1892+807A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541118 | ||||||
| chrX:19541346
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1892+579G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541346 | ||||||
| chrX:19541380
|
C | A | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1892+545G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541380 | ||||||
| chrX:19541718
|
C | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1892+207G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541718 | ||||||
| chrX:19541719
|
A | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1892+206T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541719 | ||||||
| chrX:19541754
|
T | C | 1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1892+171A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541754 | ||||||
| chrX:19541781
|
C | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1892+144G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541781 | ||||||
| chrX:19541911
|
C | T | 11 | a0001c0001t0002g0003a0001c0002t0002g0178a0001c0002t0002g0187others(8): Show | 11 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.1892+14G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 16/17 | chrX | 19541911 | ||||||
| chrX:19542561
|
C | G | 1 | a0001c0001t0001g0084 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1624-368G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19542561 | ||||||
| chrX:19542803
|
A | G | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1624-610T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19542803 | ||||||
| chrX:19542896
|
G | A | 2 | a0001c0001t0001g0176a0001c0003t0004g0180 | 2 | HG02132.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1624-703C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19542896 | ||||||
| chrX:19542900
|
G | C | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1624-707C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19542900 | ||||||
| chrX:19543086
|
G | C | 1 | a0001c0002t0002g0188 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1624-893C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543086 | ||||||
| chrX:19543099
|
G | A | 6 | a0001c0001t0001g0021a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1624-906C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543099 | ||||||
| chrX:19543135
|
G | A | 14 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0002g0003others(11): Show | 14 | HG01070.hp1 HG01891.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1624-942C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543135 | ||||||
| chrX:19543490
|
C | T | 22 | a0001c0001t0001g0021a0001c0001t0001g0052a0001c0001t0001g0167others(19): Show | 22 | HG01070.hp1 HG01106.hp1 HG01496.hp1 others(19): Show |
intron_variant | MODIFIER | c.1624-1297G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543490 | ||||||
| chrX:19543506
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1624-1313C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543506 | ||||||
| chrX:19543648
|
G | C | 1 | a0001c0001t0001g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1624-1455C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543648 | ||||||
| chrX:19543658
|
G | A | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1624-1465C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543658 | ||||||
| chrX:19543664
|
G | A | 2 | a0001c0001t0001g0173a0001c0001t0001g0183 | 2 | HG01496.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.1624-1471C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543664 | ||||||
| chrX:19543735
|
T | C | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 58 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(55): Show |
intron_variant | MODIFIER | c.1624-1542A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543735 | ||||||
| chrX:19543806
|
G | A | 3 | a0001c0001t0001g0067a0001c0001t0001g0082a0001c0001t0001g0131 | 3 | HG02129.hp1 NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1624-1613C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19543806 | ||||||
| chrX:19544077
|
G | A | 12 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(9): Show | 12 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.1623+1845C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544077 | ||||||
| chrX:19544231
|
G | A | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1623+1691C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544231 | ||||||
| chrX:19544262
|
G | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1623+1660C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544262 | ||||||
| chrX:19544343
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1623+1579G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544343 | ||||||
| chrX:19544420
|
T | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1623+1502A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544420 | ||||||
| chrX:19544513
|
C | T | 1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1623+1409G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544513 | ||||||
| chrX:19544514
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1623+1408C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544514 | ||||||
| chrX:19544552
|
T | C | 7 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0001g0181others(4): Show | 7 | HG02622.hp2 HG02647.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1623+1370A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544552 | ||||||
| chrX:19544602
|
A | G | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1623+1320T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19544602 | ||||||
| chrX:19545185
|
T | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1623+737A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19545185 | ||||||
| chrX:19545191
|
A | G | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1623+731T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19545191 | ||||||
| chrX:19545292
|
G | C | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1623+630C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19545292 | ||||||
| chrX:19545731
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1623+191G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19545731 | ||||||
| chrX:19545765
|
C | T | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1623+157G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 15/17 | chrX | 19545765 | ||||||
| chrX:19546115
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1495-65A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546115 | ||||||
| chrX:19546120
|
T | C | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1495-70A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546120 | ||||||
| chrX:19546127
|
T | C | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1495-77A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546127 | ||||||
| chrX:19546244
|
C | G | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1495-194G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546244 | ||||||
| chrX:19546318
|
A | G | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1495-268T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546318 | ||||||
| chrX:19546503
|
C | A | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1495-453G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546503 | ||||||
| chrX:19546532
|
T | C | 1 | a0003c0005t0001g0157 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1495-482A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546532 | ||||||
| chrX:19546554
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1495-504G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19546554 | ||||||
| chrX:19547031
|
A | G | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1495-981T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547031 | ||||||
| chrX:19547102
|
T | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1495-1052A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547102 | ||||||
| chrX:19547155
|
G | GA | 86 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(83): Show | 86 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(83): Show |
intron_variant | MODIFIER | c.1495-1106dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547155 | ||||||
| chrX:19547155
|
GA | G | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1495-1106delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547155 | ||||||
| chrX:19547371
|
C | T | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1495-1321G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547371 | ||||||
| chrX:19547426
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1495-1376C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547426 | ||||||
| chrX:19547464
|
G | T | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1495-1414C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547464 | ||||||
| chrX:19547506
|
TTTTA | T | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1495-1460_1495-145 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547506 | ||||||
| chrX:19547518
|
A | T | 1 | a0001c0001t0001g0169 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1495-1468T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547518 | ||||||
| chrX:19547540
|
C | CA | 1 | a0001c0001t0001g0200 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1495-1491dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547540 | ||||||
| chrX:19547779
|
A | C | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1495-1729T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547779 | ||||||
| chrX:19547819
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1495-1769C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19547819 | ||||||
| chrX:19548033
|
G | A | 2 | a0001c0001t0001g0019a0001c0001t0001g0181 | 2 | HG02886.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1494+1941C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548033 | ||||||
| chrX:19548196
|
T | TC | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1494+1777dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548196 | ||||||
| chrX:19548218
|
T | A | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1494+1756A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548218 | ||||||
| chrX:19548403
|
T | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1494+1571A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548403 | ||||||
| chrX:19548583
|
A | G | 86 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(83): Show |
intron_variant | MODIFIER | c.1494+1391T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548583 | ||||||
| chrX:19548587
|
T | A | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1494+1387A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548587 | ||||||
| chrX:19548808
|
T | C | 2 | a0001c0001t0001g0012a0001c0001t0001g0152 | 2 | HG01074.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1494+1166A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548808 | ||||||
| chrX:19548823
|
T | TAGAGAG | 4 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0041others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1494+1150_1494+115 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548823 | ||||||
| chrX:19548825
|
A | AAG | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1494+1147_1494+114 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAG | 94 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0016others(91): Show | 94 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(91): Show |
intron_variant | MODIFIER | c.1494+1143_1494+114 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAGA others(1): Show |
17 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0147others(14): Show | 17 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.1494+1141_1494+114 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAGA others(3): Show |
47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(44): Show | 47 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(44): Show |
intron_variant | MODIFIER | c.1494+1139_1494+114 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAGA others(5): Show |
10 | a0001c0001t0001g0099a0001c0001t0001g0167a0001c0001t0001g0168others(7): Show | 10 | HG01496.hp1 HG01884.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.1494+1137_1494+114 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAGA others(7): Show |
1 | a0001c0001t0001g0021 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1494+1135_1494+114 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | AAGAGAGA others(9): Show |
2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1494+1133_1494+114 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
A | G | 4 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0041others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1494+1149T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548825
|
AAG | A | 2 | a0001c0001t0001g0175a0001c0003t0013g0068 | 2 | HG02723.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1494+1147_1494+114 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548825 | ||||||
| chrX:19548850
|
C | G | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1494+1124G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548850 | ||||||
| chrX:19548850
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1494+1124G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548850 | ||||||
| chrX:19548918
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1494+1056G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19548918 | ||||||
| chrX:19549027
|
A | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1494+947T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549027 | ||||||
| chrX:19549252
|
A | AT | 35 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(32): Show | 35 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.1494+721dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549252 | ||||||
| chrX:19549252
|
AT | A | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1494+721delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549252 | ||||||
| chrX:19549261
|
T | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1494+713A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549261 | ||||||
| chrX:19549261
|
T | TA | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1494+712dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549261 | ||||||
| chrX:19549357
|
A | C | 16 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(13): Show | 16 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.1494+617T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549357 | ||||||
| chrX:19549446
|
T | C | 4 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0182others(1): Show | 4 | HG00280.hp1 HG01496.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.1494+528A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549446 | ||||||
| chrX:19549563
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1494+411G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549563 | ||||||
| chrX:19549590
|
C | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1494+384G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549590 | ||||||
| chrX:19549827
|
T | C | 16 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(13): Show | 16 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.1494+147A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549827 | ||||||
| chrX:19549932
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1494+42A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 14/17 | chrX | 19549932 | ||||||
| chrX:19550296
|
T | C | 1 | a0001c0001t0001g0017 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1385-213A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19550296 | ||||||
| chrX:19550361
|
G | A | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1385-278C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19550361 | ||||||
| chrX:19550639
|
C | T | 65 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.1385-556G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19550639 | ||||||
| chrX:19550642
|
T | C | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1385-559A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19550642 | ||||||
| chrX:19550876
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-793T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19550876 | ||||||
| chrX:19551279
|
T | C | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1385-1196A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551279 | ||||||
| chrX:19551305
|
C | T | 8 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0001g0181others(5): Show | 8 | HG01106.hp1 HG02622.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1385-1222G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551305 | ||||||
| chrX:19551404
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1385-1321G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551404 | ||||||
| chrX:19551517
|
A | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1385-1434T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551517 | ||||||
| chrX:19551520
|
A | T | 75 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1385-1437T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551520 | ||||||
| chrX:19551546
|
CCCT | C | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1385-1466_1385-146 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551546 | ||||||
| chrX:19551550
|
C | CT | 16 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(13): Show | 16 | HG00609.hp1 HG00733.hp1 HG01981.hp1 others(13): Show |
intron_variant | MODIFIER | c.1385-1468dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTT | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1385-1469_1385-146 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT | 7 | a0001c0001t0001g0059a0001c0001t0001g0194a0001c0001t0001g0195others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1385-1474_1385-146 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(1): Show |
2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1385-1475_1385-146 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(10): Show |
1 | a0001c0003t0002g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1385-1468_1385-146 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(12): Show |
1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1385-1468_1385-146 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(16): Show |
2 | a0001c0002t0002g0187a0001c0009t0002g0009 | 2 | HG01070.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1385-1468_1385-146 others(27): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(17): Show |
4 | a0001c0002t0001g0179a0001c0002t0002g0188a0001c0002t0002g0189others(1): Show | 4 | HG02630.hp1 HG03540.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1385-1468_1385-146 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(18): Show |
2 | a0001c0002t0002g0178a0001c0002t0002g0202 | 2 | HG02615.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1385-1468_1385-146 others(29): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(26): Show |
1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1385-1468_1385-146 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
C | CTTTTTTT others(32): Show |
1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1385-1468_1385-146 others(43): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551550
|
CT | C | 10 | a0001c0001t0001g0019a0001c0001t0001g0053a0001c0001t0001g0167others(7): Show | 10 | HG01496.hp1 HG01884.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1385-1468delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551550 | ||||||
| chrX:19551874
|
AC | A | 3 | a0001c0001t0009g0193a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG03139.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1385-1792delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551874 | ||||||
| chrX:19551876
|
C | A | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1385-1793G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19551876 | ||||||
| chrX:19552405
|
C | T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1385-2322G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552405 | ||||||
| chrX:19552535
|
G | A | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1385-2452C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552535 | ||||||
| chrX:19552541
|
G | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1385-2458C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552541 | ||||||
| chrX:19552585
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1385-2502G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552585 | ||||||
| chrX:19552617
|
C | CA | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1385-2535dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552617 | ||||||
| chrX:19552695
|
G | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1385-2612C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552695 | ||||||
| chrX:19552742
|
G | A | 1 | a0001c0001t0001g0135 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1385-2659C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552742 | ||||||
| chrX:19552816
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1385-2733C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552816 | ||||||
| chrX:19552981
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1385-2898G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19552981 | ||||||
| chrX:19553072
|
T | C | 2 | a0001c0001t0001g0086a0001c0001t0001g0100 | 2 | HG01981.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.1385-2989A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553072 | ||||||
| chrX:19553581
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-3498T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553581 | ||||||
| chrX:19553687
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1385-3604A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553687 | ||||||
| chrX:19553882
|
A | T | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1385-3799T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553882 | ||||||
| chrX:19553905
|
T | A | 1 | a0001c0001t0001g0084 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1385-3822A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553905 | ||||||
| chrX:19553930
|
T | TATATAAT others(17): Show |
84 | a0001c0001t0001g0012a0001c0001t0001g0063a0001c0001t0001g0064others(81): Show | 84 | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(81): Show |
intron_variant | MODIFIER | c.1385-3871_1385-384 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553930 | ||||||
| chrX:19553930
|
T | TATATAAT others(41): Show |
2 | a0001c0001t0001g0077a0001c0001t0001g0160 | 2 | HG04115.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1385-3895_1385-384 others(52): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553930 | ||||||
| chrX:19553930
|
TATATA | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1385-3852_1385-384 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553930 | ||||||
| chrX:19553930
|
TATATAAT others(17): Show |
T | 5 | a0001c0001t0001g0014a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 5 | HG01099.hp1 HG01123.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1385-3871_1385-384 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553930 | ||||||
| chrX:19553930
|
TATATAAT others(41): Show |
T | 11 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0059others(8): Show | 11 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1385-3895_1385-384 others(52): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553930 | ||||||
| chrX:19553933
|
AT | A | 1 | a0001c0002t0002g0190 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1385-3851delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553933 | ||||||
| chrX:19553966
|
AATATATA others(84): Show |
A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1385-3974_1385-388 others(95): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553966 | ||||||
| chrX:19553967
|
A | T | 3 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0006t0001g0054 | 3 | HG01496.hp1 HG02451.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1385-3884T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553967 | ||||||
| chrX:19553978
|
AATATAAT | A | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1385-3902_1385-389 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553978 | ||||||
| chrX:19553991
|
A | T | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1385-3908T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19553991 | ||||||
| chrX:19554001
|
AAATAT | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(45): Show | 48 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(45): Show |
intron_variant | MODIFIER | c.1385-3923_1385-391 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554001 | ||||||
| chrX:19554006
|
TAATATAT others(60): Show |
T | 8 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(5): Show | 8 | HG01243.hp1 HG01975.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.1385-3990_1385-392 others(71): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554006 | ||||||
| chrX:19554014
|
A | T | 42 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(39): Show | 42 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(39): Show |
intron_variant | MODIFIER | c.1385-3931T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554014 | ||||||
| chrX:19554017
|
A | ATATATTA others(13): Show |
2 | a0001c0001t0001g0005a0001c0001t0001g0177 | 2 | HG02145.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1385-3954_1385-393 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554017 | ||||||
| chrX:19554025
|
AAATAT | A | 30 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(27): Show | 30 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.1385-3947_1385-394 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554025 | ||||||
| chrX:19554032
|
A | ATATATAA others(17): Show |
2 | a0001c0001t0001g0119a0001c0001t0001g0126 | 2 | NA18945.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1385-3973_1385-395 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554032 | ||||||
| chrX:19554032
|
A | T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1385-3949T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554032 | ||||||
| chrX:19554035
|
T | C | 20 | a0001c0001t0001g0052a0001c0001t0001g0175a0001c0001t0003g0057others(17): Show | 20 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(17): Show |
intron_variant | MODIFIER | c.1385-3952A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554035 | ||||||
| chrX:19554037
|
TAATATAT others(61): Show |
T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1385-4022_1385-395 others(72): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554037 | ||||||
| chrX:19554038
|
A | T | 27 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(24): Show | 27 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.1385-3955T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554038 | ||||||
| chrX:19554038
|
AAT | A | 6 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(3): Show | 6 | HG02293.hp2 HG02451.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1385-3957_1385-395 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554038 | ||||||
| chrX:19554038
|
AATATATA others(33): Show |
A | 22 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(19): Show | 22 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.1385-3995_1385-395 others(44): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554038 | ||||||
| chrX:19554041
|
A | T | 6 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(3): Show | 6 | HG02293.hp2 HG02451.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1385-3958T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554041 | ||||||
| chrX:19554042
|
T | C | 6 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(3): Show | 6 | HG02293.hp2 HG02451.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1385-3959A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554042 | ||||||
| chrX:19554052
|
T | TATA | 1 | a0001c0001t0001g0167 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1385-3972_1385-397 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554052 | ||||||
| chrX:19554055
|
ATTATAT | A | 25 | a0001c0001t0001g0052a0001c0001t0001g0168a0001c0001t0001g0169others(22): Show | 25 | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(22): Show |
intron_variant | MODIFIER | c.1385-3978_1385-397 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554055 | ||||||
| chrX:19554056
|
T | A | 11 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(8): Show | 11 | HG00733.hp1 HG01496.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.1385-3973A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554056 | ||||||
| chrX:19554061
|
T | TATC | 3 | a0001c0001t0001g0050a0001c0001t0001g0167a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02559.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1385-3979_1385-397 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554061 | ||||||
| chrX:19554063
|
TATTAAAA others(9): Show |
T | 9 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(6): Show | 9 | HG00733.hp1 HG01496.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1385-3996_1385-398 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554063 | ||||||
| chrX:19554067
|
AAAATACA others(1): Show |
A | 25 | a0001c0001t0001g0052a0001c0001t0001g0168a0001c0001t0001g0169others(22): Show | 25 | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(22): Show |
intron_variant | MODIFIER | c.1385-3992_1385-398 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554067 | ||||||
| chrX:19554071
|
T | TATA | 3 | a0001c0001t0001g0050a0001c0001t0001g0167a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02559.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1385-3989_1385-398 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554071 | ||||||
| chrX:19554073
|
C | T | 3 | a0001c0001t0001g0050a0001c0001t0001g0167a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02559.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1385-3990G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554073 | ||||||
| chrX:19554079
|
A | T | 22 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(19): Show | 22 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.1385-3996T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554079 | ||||||
| chrX:19554080
|
T | C | 31 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(28): Show | 31 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.1385-3997A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554080 | ||||||
| chrX:19554080
|
T | TATATTAA others(18): Show |
1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1385-4022_1385-399 others(29): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554080 | ||||||
| chrX:19554080
|
T | TATC | 3 | a0001c0001t0001g0050a0001c0001t0001g0167a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02559.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1385-3998_1385-399 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554080 | ||||||
| chrX:19554080
|
T | TC | 25 | a0001c0001t0001g0052a0001c0001t0001g0168a0001c0001t0001g0169others(22): Show | 25 | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(22): Show |
intron_variant | MODIFIER | c.1385-3998_1385-399 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554080 | ||||||
| chrX:19554090
|
TATA | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4010_1385-400 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554090 | ||||||
| chrX:19554094
|
ATAT | A | 9 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(6): Show | 9 | HG01243.hp1 HG01975.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1385-4014_1385-401 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554094 | ||||||
| chrX:19554097
|
T | TTATATAT others(15): Show |
5 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(2): Show | 5 | HG02293.hp2 HG02451.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1385-4036_1385-401 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554097 | ||||||
| chrX:19554115
|
TATA | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0175 | 2 | HG02630.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1385-4035_1385-403 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554115 | ||||||
| chrX:19554119
|
ATAT | A | 36 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(33): Show | 36 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.1385-4039_1385-403 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554119 | ||||||
| chrX:19554135
|
T | TA | 1 | a0001c0002t0002g0190 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1385-4053dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554135 | ||||||
| chrX:19554140
|
T | TATA | 6 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(3): Show | 6 | HG02293.hp2 HG02451.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1385-4060_1385-405 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554140 | ||||||
| chrX:19554144
|
T | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(41): Show | 44 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(41): Show |
intron_variant | MODIFIER | c.1385-4061A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554144 | ||||||
| chrX:19554166
|
A | ATAT | 29 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 29 | HG00733.hp1 HG02055.hp1 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.1385-4086_1385-408 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554166 | ||||||
| chrX:19554166
|
A | ATATATAT others(18): Show |
1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1385-4108_1385-408 others(29): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554166 | ||||||
| chrX:19554166
|
A | ATATATAT others(65): Show |
1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1385-4084_1385-408 others(76): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554166 | ||||||
| chrX:19554166
|
A | ATATTATA others(21): Show |
1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1385-4084_1385-408 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554166 | ||||||
| chrX:19554166
|
A | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0024others(8): Show | 11 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1385-4083T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554166 | ||||||
| chrX:19554171
|
TATC | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4091_1385-408 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554171 | ||||||
| chrX:19554188
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4105T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554188 | ||||||
| chrX:19554188
|
ATAT | A | 3 | a0001c0001t0001g0019a0001c0001t0001g0115a0001c0001t0001g0181 | 3 | HG02886.hp2 HG06807.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.1385-4108_1385-410 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554188 | ||||||
| chrX:19554191
|
T | TATATATT others(4): Show |
1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4109_1385-410 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554191 | ||||||
| chrX:19554209
|
TATA | T | 5 | a0001c0001t0001g0050a0001c0001t0001g0162a0001c0001t0001g0173others(2): Show | 5 | HG00280.hp1 HG01496.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.1385-4129_1385-412 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554209 | ||||||
| chrX:19554216
|
T | TATATCAT others(5): Show |
13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1385-4134_1385-413 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554216 | ||||||
| chrX:19554217
|
T | A | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1385-4134A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554217 | ||||||
| chrX:19554223
|
T | TTATA | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1385-4141_1385-414 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554223 | ||||||
| chrX:19554224
|
C | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1385-4141G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554224 | ||||||
| chrX:19554224
|
CATATTAA others(12): Show |
C | 7 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | HG01243.hp1 HG01975.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1385-4160_1385-414 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554224 | ||||||
| chrX:19554234
|
T | TATA | 31 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(28): Show | 31 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.1385-4154_1385-415 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554234 | ||||||
| chrX:19554237
|
AT | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4155delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554237 | ||||||
| chrX:19554238
|
T | A | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1385-4155A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554238 | ||||||
| chrX:19554239
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4156A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554239 | ||||||
| chrX:19554241
|
TA | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4159delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554241 | ||||||
| chrX:19554243
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4160A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554243 | ||||||
| chrX:19554243
|
T | TATC | 33 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(30): Show | 33 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(30): Show |
intron_variant | MODIFIER | c.1385-4161_1385-416 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554243 | ||||||
| chrX:19554253
|
T | TATA | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4173_1385-417 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554253 | ||||||
| chrX:19554262
|
T | TATC | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4180_1385-417 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554262 | ||||||
| chrX:19554269
|
A | ATAT | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4187_1385-418 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554269 | ||||||
| chrX:19554271
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4188T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554271 | ||||||
| chrX:19554293
|
T | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4210A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554293 | ||||||
| chrX:19554310
|
A | ATATGATA others(5): Show |
1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4228_1385-422 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554310 | ||||||
| chrX:19554315
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4232G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554315 | ||||||
| chrX:19554328
|
TATA | T | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1385-4248_1385-424 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554328 | ||||||
| chrX:19554330
|
T | TGATA | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4248_1385-424 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554330 | ||||||
| chrX:19554331
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4248T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554331 | ||||||
| chrX:19554348
|
T | TAA | 10 | a0001c0001t0001g0018a0001c0001t0001g0053a0001c0001t0001g0059others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1385-4267_1385-426 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554348 | ||||||
| chrX:19554349
|
A | AAAATATG others(2): Show |
1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4267_1385-426 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554349 | ||||||
| chrX:19554355
|
T | A | 48 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(45): Show | 48 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(45): Show |
intron_variant | MODIFIER | c.1385-4272A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554355 | ||||||
| chrX:19554371
|
A | AATATGAT | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4289_1385-428 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554371 | ||||||
| chrX:19554376
|
A | T | 1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1385-4293T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554376 | ||||||
| chrX:19554377
|
A | ATATATAT | 12 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0044others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1385-4301_1385-429 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554377 | ||||||
| chrX:19554377
|
A | ATATATAT others(22): Show |
67 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(64): Show | 67 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.1385-4295_1385-429 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554377 | ||||||
| chrX:19554377
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-4294T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554377 | ||||||
| chrX:19554559
|
A | T | 4 | a0001c0001t0001g0052a0001c0002t0012g0186a0001c0003t0004g0180others(1): Show | 4 | HG02559.hp1 HG02922.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1385-4476T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554559 | ||||||
| chrX:19554954
|
G | A | 5 | a0001c0001t0001g0019a0001c0001t0001g0181a0001c0001t0003g0057others(2): Show | 5 | HG02622.hp2 HG02647.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1385-4871C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19554954 | ||||||
| chrX:19555098
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1385-5015A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19555098 | ||||||
| chrX:19555263
|
C | T | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1385-5180G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19555263 | ||||||
| chrX:19555917
|
C | T | 3 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003 | 3 | HG01891.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1385-5834G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19555917 | ||||||
| chrX:19556267
|
G | T | 1 | a0001c0001t0001g0073 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1385-6184C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556267 | ||||||
| chrX:19556290
|
CT | C | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1385-6208delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556290 | ||||||
| chrX:19556303
|
T | C | 58 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 58 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(55): Show |
intron_variant | MODIFIER | c.1385-6220A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556303 | ||||||
| chrX:19556328
|
T | G | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1385-6245A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556328 | ||||||
| chrX:19556538
|
A | G | 6 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0011g0045others(3): Show | 6 | HG01106.hp1 HG02293.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1385-6455T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556538 | ||||||
| chrX:19556807
|
A | G | 1 | a0001c0001t0001g0066 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1385-6724T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556807 | ||||||
| chrX:19556974
|
A | C | 1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1385-6891T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19556974 | ||||||
| chrX:19557084
|
G | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1385-7001C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557084 | ||||||
| chrX:19557268
|
G | C | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1385-7185C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557268 | ||||||
| chrX:19557325
|
A | G | 3 | a0001c0001t0001g0096a0001c0001t0001g0116a0001c0001t0001g0164 | 3 | NA18953.hp1 NA19068.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1385-7242T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557325 | ||||||
| chrX:19557332
|
T | C | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1385-7249A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557332 | ||||||
| chrX:19557423
|
T | C | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1385-7340A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557423 | ||||||
| chrX:19557773
|
G | C | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1385-7690C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557773 | ||||||
| chrX:19557925
|
C | A | 4 | a0001c0001t0001g0052a0001c0002t0012g0186a0001c0003t0004g0180others(1): Show | 4 | HG02559.hp1 HG02922.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1385-7842G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557925 | ||||||
| chrX:19557997
|
T | C | 84 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 84 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(81): Show |
intron_variant | MODIFIER | c.1385-7914A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19557997 | ||||||
| chrX:19558527
|
TATC | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1385-8447_1385-844 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19558527 | ||||||
| chrX:19558817
|
A | G | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1385-8734T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19558817 | ||||||
| chrX:19559274
|
C | CA | 39 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0063others(36): Show | 39 | HG00140.hp1 HG00621.hp1 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.1385-9192dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
C | CAA | 13 | a0001c0001t0001g0053a0001c0001t0001g0141a0001c0001t0001g0167others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02293.hp2 others(10): Show |
intron_variant | MODIFIER | c.1385-9193_1385-919 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
C | CAAA | 40 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(37): Show | 40 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.1385-9194_1385-919 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
C | CAAAA | 15 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0018others(12): Show | 15 | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.1385-9195_1385-919 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
C | CAAAAA | 1 | a0001c0001t0001g0026 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1385-9196_1385-919 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
CA | C | 3 | a0001c0001t0001g0133a0001c0001t0001g0148a0001c0001t0001g0204 | 3 | HG02135.hp1 NA18962.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1385-9192delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559274
|
CAAAAA | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1385-9196_1385-919 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559274 | ||||||
| chrX:19559300
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1385-9217C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559300 | ||||||
| chrX:19559318
|
A | AT | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1385-9236dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559318 | ||||||
| chrX:19559519
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1385-9436G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559519 | ||||||
| chrX:19559581
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1385-9498C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559581 | ||||||
| chrX:19559627
|
C | A | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1384+9476G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559627 | ||||||
| chrX:19559693
|
A | G | 2 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1384+9410T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559693 | ||||||
| chrX:19559752
|
A | G | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1384+9351T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559752 | ||||||
| chrX:19559865
|
A | G | 48 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | 48 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(45): Show |
intron_variant | MODIFIER | c.1384+9238T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559865 | ||||||
| chrX:19559917
|
C | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+9186G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19559917 | ||||||
| chrX:19560126
|
T | TA | 3 | a0001c0001t0001g0053a0001c0003t0004g0180a0001c0006t0001g0054 | 3 | HG03041.hp1 HG03579.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1384+8976dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560126 | ||||||
| chrX:19560126
|
TA | T | 9 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0050others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.1384+8976delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560126 | ||||||
| chrX:19560219
|
C | CA | 75 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1384+8883dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560219 | ||||||
| chrX:19560308
|
A | G | 2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1384+8795T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560308 | ||||||
| chrX:19560366
|
A | G | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.1384+8737T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560366 | ||||||
| chrX:19560513
|
C | T | 4 | a0001c0001t0001g0050a0001c0001t0011g0045a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02293.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+8590G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560513 | ||||||
| chrX:19560763
|
A | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1384+8340T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560763 | ||||||
| chrX:19560911
|
C | CA | 19 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(16): Show | 19 | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(16): Show |
intron_variant | MODIFIER | c.1384+8191dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19560911 | ||||||
| chrX:19561072
|
T | TA | 5 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0069others(2): Show | 5 | HG01261.hp1 HG02257.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1384+8030dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561072
|
T | TC | 7 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(4): Show | 7 | HG01515.hp1 HG01517.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1384+8030_1384+803 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561072
|
TA | T | 10 | a0001c0001t0001g0019a0001c0001t0001g0053a0001c0001t0001g0070others(7): Show | 10 | HG01106.hp1 HG01975.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.1384+8030delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561072
|
TAA | T | 9 | a0001c0001t0001g0052a0001c0002t0002g0187a0001c0002t0002g0188others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1384+8029_1384+803 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561072
|
TAAA | T | 7 | a0001c0001t0001g0050a0001c0001t0001g0171a0001c0001t0002g0003others(4): Show | 7 | HG01070.hp1 HG01891.hp2 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.1384+8028_1384+803 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561072
|
TAAAA | T | 1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1384+8027_1384+803 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561072 | ||||||
| chrX:19561073
|
A | C | 54 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(51): Show | 54 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(51): Show |
intron_variant | MODIFIER | c.1384+8030T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561073 | ||||||
| chrX:19561073
|
A | G | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1384+8030T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561073 | ||||||
| chrX:19561074
|
A | C | 9 | a0001c0001t0001g0019a0001c0001t0001g0053a0001c0001t0001g0099others(6): Show | 9 | HG01106.hp1 HG01975.hp2 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1384+8029T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561074 | ||||||
| chrX:19561075
|
A | C | 9 | a0001c0001t0001g0052a0001c0002t0002g0187a0001c0002t0002g0188others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1384+8028T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561075 | ||||||
| chrX:19561076
|
A | C | 5 | a0001c0001t0001g0050a0001c0001t0011g0045a0001c0002t0001g0179others(2): Show | 5 | HG01070.hp1 HG02293.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1384+8027T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561076 | ||||||
| chrX:19561077
|
A | C | 1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1384+8026T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561077 | ||||||
| chrX:19561175
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1384+7928G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561175 | ||||||
| chrX:19561182
|
T | C | 2 | a0001c0001t0001g0050a0001c0001t0011g0045 | 2 | HG02293.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1384+7921A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561182 | ||||||
| chrX:19561443
|
CA | C | 1 | a0001c0001t0002g0003 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1384+7659delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561443 | ||||||
| chrX:19561456
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0090 | 2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1384+7647A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561456 | ||||||
| chrX:19561623
|
G | A | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1384+7480C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561623 | ||||||
| chrX:19561815
|
C | CT | 6 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0128others(3): Show | 6 | HG02056.hp1 HG02293.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1384+7287dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561815 | ||||||
| chrX:19561815
|
C | CTT | 17 | a0001c0001t0001g0052a0001c0001t0003g0057a0001c0001t0003g0058others(14): Show | 17 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(14): Show |
intron_variant | MODIFIER | c.1384+7286_1384+728 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561815 | ||||||
| chrX:19561815
|
CT | C | 3 | a0001c0001t0001g0070a0001c0001t0001g0107a0001c0001t0001g0108 | 3 | HG01975.hp2 HG02735.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1384+7287delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19561815 | ||||||
| chrX:19562066
|
A | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG01070.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1384+7037T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562066 | ||||||
| chrX:19562198
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1384+6905G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562198 | ||||||
| chrX:19562200
|
T | C | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1384+6903A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562200 | ||||||
| chrX:19562290
|
C | T | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1384+6813G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562290 | ||||||
| chrX:19562395
|
A | C | 1 | a0001c0001t0001g0169 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1384+6708T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562395 | ||||||
| chrX:19562404
|
G | A | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1384+6699C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562404 | ||||||
| chrX:19562602
|
T | C | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1384+6501A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19562602 | ||||||
| chrX:19563042
|
A | G | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1384+6061T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563042 | ||||||
| chrX:19563177
|
G | A | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02559.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1384+5926C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563177 | ||||||
| chrX:19563183
|
C | T | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1384+5920G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563183 | ||||||
| chrX:19563461
|
A | C | 69 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(66): Show | 69 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(66): Show |
intron_variant | MODIFIER | c.1384+5642T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563461 | ||||||
| chrX:19563465
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1384+5638G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563465 | ||||||
| chrX:19563698
|
C | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+5405G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19563698 | ||||||
| chrX:19564074
|
ATAACTGG others(9): Show |
A | 5 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0003g0057others(2): Show | 5 | HG02622.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1384+5013_1384+502 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564074 | ||||||
| chrX:19564269
|
C | G | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.1384+4834G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564269 | ||||||
| chrX:19564436
|
G | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1384+4667C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564436 | ||||||
| chrX:19564492
|
T | G | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1384+4611A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564492 | ||||||
| chrX:19564569
|
T | TC | 2 | a0001c0001t0001g0102a0001c0006t0001g0054 | 2 | HG03579.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.1384+4533dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564569 | ||||||
| chrX:19564576
|
C | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.1384+4527G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564576 | ||||||
| chrX:19564850
|
C | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+4253G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19564850 | ||||||
| chrX:19565051
|
A | AT | 36 | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0052others(33): Show | 36 | HG01069.hp1 HG01071.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.1384+4051dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATT | 4 | a0001c0001t0001g0050a0001c0001t0001g0156a0001c0001t0003g0058others(1): Show | 4 | HG02559.hp1 HG02622.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+4050_1384+405 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTT | 26 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0022others(23): Show | 26 | HG00639.hp2 HG01167.hp1 HG01192.hp1 others(23): Show |
intron_variant | MODIFIER | c.1384+4049_1384+405 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTT | 13 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(10): Show | 13 | HG00733.hp1 HG01981.hp2 HG02809.hp2 others(10): Show |
intron_variant | MODIFIER | c.1384+4048_1384+405 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTT | 6 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0048others(3): Show | 6 | HG01123.hp1 HG01975.hp2 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1384+4047_1384+405 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(3): Show |
1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1384+4042_1384+405 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(4): Show |
1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1384+4041_1384+405 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(7): Show |
2 | a0001c0001t0001g0197a0001c0001t0009g0193 | 2 | HG01070.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.1384+4038_1384+405 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(8): Show |
4 | a0001c0001t0001g0059a0001c0001t0001g0194a0001c0001t0001g0198others(1): Show | 4 | HG01071.hp2 HG01109.hp1 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+4037_1384+405 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(9): Show |
3 | a0001c0001t0001g0018a0001c0001t0001g0195a0001c0001t0001g0196 | 3 | HG01891.hp1 HG03195.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1384+4036_1384+405 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
A | ATTTTTTT others(10): Show |
1 | a0001c0001t0001g0200 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1384+4035_1384+405 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
AT | A | 1 | a0001c0001t0001g0064 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1384+4051delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565051
|
ATTTTTTT others(2): Show |
A | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG01070.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.1384+4043_1384+405 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565051 | ||||||
| chrX:19565092
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1384+4011C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565092 | ||||||
| chrX:19565352
|
G | A | 1 | a0001c0001t0001g0139 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1384+3751C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565352 | ||||||
| chrX:19565353
|
C | T | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1384+3750G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565353 | ||||||
| chrX:19565839
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1384+3264A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565839 | ||||||
| chrX:19565851
|
G | C | 11 | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0059others(8): Show | 11 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1384+3252C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565851 | ||||||
| chrX:19565926
|
C | CT | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(41): Show | 44 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(41): Show |
intron_variant | MODIFIER | c.1384+3176dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565926 | ||||||
| chrX:19565926
|
C | CTT | 2 | a0001c0001t0001g0008a0001c0001t0001g0042 | 2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1384+3175_1384+317 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565926 | ||||||
| chrX:19565926
|
CT | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1384+3176delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19565926 | ||||||
| chrX:19566122
|
C | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1384+2981G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19566122 | ||||||
| chrX:19566303
|
G | GC | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.1384+2799dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19566303 | ||||||
| chrX:19566716
|
T | G | 52 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(49): Show | 52 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(49): Show |
intron_variant | MODIFIER | c.1384+2387A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19566716 | ||||||
| chrX:19566958
|
G | C | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+2145C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19566958 | ||||||
| chrX:19566993
|
C | A | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1384+2110G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19566993 | ||||||
| chrX:19567011
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1384+2092C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567011 | ||||||
| chrX:19567112
|
G | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+1991C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567112 | ||||||
| chrX:19567195
|
C | CTG | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1384+1906_1384+190 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567195 | ||||||
| chrX:19567214
|
C | A | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.1384+1889G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567214 | ||||||
| chrX:19567249
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1384+1854A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567249 | ||||||
| chrX:19567345
|
C | T | 9 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1384+1758G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567345 | ||||||
| chrX:19567363
|
A | G | 12 | a0001c0001t0001g0081a0001c0001t0001g0106a0001c0001t0001g0113others(9): Show | 12 | HG01255.hp1 HG02135.hp1 NA18962.hp1 others(9): Show |
intron_variant | MODIFIER | c.1384+1740T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567363 | ||||||
| chrX:19567509
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1384+1594T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567509 | ||||||
| chrX:19567518
|
C | CA | 2 | a0001c0001t0001g0071a0001c0001t0001g0096 | 2 | NA18953.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.1384+1584dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
C | CAA | 1 | a0001c0001t0001g0104 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1384+1583_1384+158 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CA | C | 58 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(55): Show | 58 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(55): Show |
intron_variant | MODIFIER | c.1384+1584delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAA | C | 18 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(15): Show | 18 | HG00639.hp1 HG00733.hp1 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.1384+1583_1384+158 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAA | C | 17 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(14): Show | 17 | HG01975.hp1 HG01981.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.1384+1582_1384+158 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAA | C | 19 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0028others(16): Show | 19 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.1384+1581_1384+158 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAA | C | 2 | a0001c0001t0001g0031a0001c0001t0001g0041 | 2 | HG01167.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1384+1580_1384+158 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAA | C | 5 | a0001c0002t0002g0188a0001c0002t0002g0189a0001c0002t0002g0190others(2): Show | 5 | HG02486.hp1 HG02630.hp1 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.1384+1579_1384+158 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA | C | 2 | a0001c0002t0002g0187a0001c0009t0002g0009 | 2 | HG01070.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1384+1578_1384+158 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(2): Show |
C | 1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1384+1576_1384+158 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1384+1573_1384+158 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1384+1572_1384+158 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1384+1571_1384+158 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(9): Show |
C | 3 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0009g0193 | 3 | HG01496.hp1 HG02451.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1384+1569_1384+158 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(10): Show |
C | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1384+1568_1384+158 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567518
|
CAAAAAAA others(12): Show |
C | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG00733.hp2 HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1384+1566_1384+158 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567518 | ||||||
| chrX:19567535
|
A | AATATATA others(3): Show |
1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1384+1567_1384+156 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567535 | ||||||
| chrX:19567537
|
A | AATATATA others(1): Show |
1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1384+1565_1384+156 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567537 | ||||||
| chrX:19567537
|
A | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1384+1566T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567537 | ||||||
| chrX:19567539
|
A | ATATATAT others(8): Show |
1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1384+1563_1384+156 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567539 | ||||||
| chrX:19567539
|
A | T | 2 | a0001c0001t0001g0053a0001c0010t0001g0199 | 2 | HG01884.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1384+1564T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567539 | ||||||
| chrX:19567541
|
A | T | 4 | a0001c0001t0001g0053a0001c0001t0001g0175a0001c0001t0001g0181others(1): Show | 4 | HG01884.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+1562T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567541 | ||||||
| chrX:19567543
|
A | T | 4 | a0001c0001t0001g0053a0001c0001t0001g0175a0001c0001t0001g0181others(1): Show | 4 | HG01884.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+1560T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567543 | ||||||
| chrX:19567545
|
A | AATAT | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1384+1557_1384+155 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567545 | ||||||
| chrX:19567545
|
A | T | 6 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0175others(3): Show | 6 | HG01884.hp1 HG02559.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1384+1558T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567545 | ||||||
| chrX:19567547
|
A | AATATATA others(7): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1384+1555_1384+155 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567547 | ||||||
| chrX:19567547
|
A | ATATATAT others(4): Show |
1 | a0001c0003t0001g0049 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1384+1555_1384+155 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567547 | ||||||
| chrX:19567547
|
A | ATATATAT others(8): Show |
1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1384+1555_1384+155 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567547 | ||||||
| chrX:19567547
|
A | ATATATAT others(10): Show |
1 | a0001c0001t0001g0169 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1384+1555_1384+155 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567547 | ||||||
| chrX:19567547
|
A | T | 8 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(5): Show | 8 | HG01884.hp1 HG02559.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.1384+1556T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567547 | ||||||
| chrX:19567549
|
A | AATATATA others(17): Show |
1 | a0001c0001t0001g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1384+1553_1384+155 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567549 | ||||||
| chrX:19567549
|
A | AT | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1384+1553_1384+155 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567549 | ||||||
| chrX:19567549
|
A | ATATATAT others(10): Show |
2 | a0001c0001t0001g0167a0001c0001t0001g0170 | 2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1384+1553_1384+155 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567549 | ||||||
| chrX:19567549
|
A | ATATATAT others(14): Show |
2 | a0001c0001t0001g0168a0005c0007t0001g0166 | 2 | HG02451.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1384+1553_1384+155 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567549 | ||||||
| chrX:19567549
|
A | T | 14 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(11): Show | 14 | HG01106.hp1 HG01109.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.1384+1554T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567549 | ||||||
| chrX:19567551
|
A | AAT | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1384+1551_1384+155 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | AT | 1 | a0001c0001t0001g0067 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1384+1551_1384+155 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | ATATATAT others(16): Show |
1 | a0001c0001t0001g0201 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1384+1551_1384+155 others(27): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | ATATATAT others(22): Show |
2 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.1384+1551_1384+155 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | ATATATAT others(24): Show |
1 | a0001c0001t0001g0018 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1384+1551_1384+155 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | ATATATAT others(26): Show |
1 | a0001c0001t0001g0194 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1384+1551_1384+155 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567551
|
A | T | 37 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0035others(34): Show | 37 | HG01070.hp1 HG01106.hp1 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.1384+1552T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567551 | ||||||
| chrX:19567553
|
A | AAT | 1 | a0001c0001t0001g0086 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1384+1549_1384+155 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567553 | ||||||
| chrX:19567553
|
A | AT | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1384+1549_1384+155 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567553 | ||||||
| chrX:19567553
|
A | ATATATAT others(20): Show |
1 | a0001c0001t0001g0200 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1384+1549_1384+155 others(31): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567553 | ||||||
| chrX:19567553
|
A | T | 82 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(79): Show | 82 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(79): Show |
intron_variant | MODIFIER | c.1384+1550T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567553 | ||||||
| chrX:19567555
|
A | AT | 5 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0089others(2): Show | 5 | HG00642.hp1 HG01261.hp1 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1384+1547_1384+154 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567555 | ||||||
| chrX:19567555
|
A | T | 133 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(130): Show | 133 | HG00140.hp1 HG00280.hp1 HG00639.hp2 others(130): Show |
intron_variant | MODIFIER | c.1384+1548T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567555 | ||||||
| chrX:19567557
|
A | AT | 3 | a0001c0001t0001g0077a0001c0001t0001g0105a0001c0001t0001g0203 | 3 | NA18985.hp1 NA18990.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1384+1545_1384+154 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567557 | ||||||
| chrX:19567557
|
A | T | 172 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(169): Show | 172 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(169): Show |
intron_variant | MODIFIER | c.1384+1546T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567557 | ||||||
| chrX:19567791
|
TA | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1384+1311delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567791 | ||||||
| chrX:19567839
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1384+1264G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567839 | ||||||
| chrX:19567840
|
GAGAGAAT others(19): Show |
G | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1384+1237_1384+126 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567840 | ||||||
| chrX:19567911
|
T | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1384+1192A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19567911 | ||||||
| chrX:19568158
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1384+945A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19568158 | ||||||
| chrX:19568475
|
T | C | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1384+628A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19568475 | ||||||
| chrX:19568555
|
A | AC | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1384+547dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19568555 | ||||||
| chrX:19568797
|
C | T | 13 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(10): Show | 13 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1384+306G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19568797 | ||||||
| chrX:19569092
|
T | C | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1384+11A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | 19569092 | ||||||
| chrX:19569267
|
G | A | 14 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(11): Show | 14 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1299-79C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569267 | ||||||
| chrX:19569282
|
G | GC | 19 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(16): Show | 19 | HG01070.hp1 HG01106.hp1 HG02293.hp2 others(16): Show |
intron_variant | MODIFIER | c.1299-95_1299-94ins others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569282 | ||||||
| chrX:19569288
|
G | A | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1299-100C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569288 | ||||||
| chrX:19569318
|
C | G | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1299-130G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569318 | ||||||
| chrX:19569390
|
T | A | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1299-202A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569390 | ||||||
| chrX:19569500
|
T | A | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1299-312A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569500 | ||||||
| chrX:19569507
|
C | T | 35 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(32): Show | 35 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.1299-319G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569507 | ||||||
| chrX:19569670
|
T | TC | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1299-483dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569670 | ||||||
| chrX:19569701
|
T | C | 17 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0002t0001g0179others(14): Show | 17 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(14): Show |
intron_variant | MODIFIER | c.1299-513A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569701 | ||||||
| chrX:19569715
|
C | A | 1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1299-527G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569715 | ||||||
| chrX:19569833
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1299-645C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19569833 | ||||||
| chrX:19570045
|
C | T | 5 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0003g0057others(2): Show | 5 | HG02622.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1299-857G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570045 | ||||||
| chrX:19570086
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1299-898C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570086 | ||||||
| chrX:19570095
|
CA | C | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1299-908delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570095 | ||||||
| chrX:19570216
|
T | C | 87 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(84): Show | 87 | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(84): Show |
intron_variant | MODIFIER | c.1299-1028A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570216 | ||||||
| chrX:19570236
|
A | G | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 64 | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(61): Show |
intron_variant | MODIFIER | c.1299-1048T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570236 | ||||||
| chrX:19570298
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1299-1110C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570298 | ||||||
| chrX:19570503
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1299-1315G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570503 | ||||||
| chrX:19570575
|
T | A | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1299-1387A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570575 | ||||||
| chrX:19570664
|
A | T | 1 | a0001c0001t0001g0073 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1299-1476T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570664 | ||||||
| chrX:19570862
|
A | C | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1299-1674T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19570862 | ||||||
| chrX:19571199
|
C | T | 84 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 84 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(81): Show |
intron_variant | MODIFIER | c.1299-2011G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19571199 | ||||||
| chrX:19571231
|
C | A | 2 | a0001c0001t0001g0168a0001c0001t0001g0170 | 2 | HG03209.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1299-2043G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19571231 | ||||||
| chrX:19571432
|
C | G | 1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1299-2244G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19571432 | ||||||
| chrX:19571830
|
C | CT | 2 | a0001c0001t0001g0123a0001c0001t0001g0181 | 2 | HG02886.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1299-2643dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19571830 | ||||||
| chrX:19571830
|
CT | C | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1299-2643delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19571830 | ||||||
| chrX:19572081
|
G | A | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1299-2893C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572081 | ||||||
| chrX:19572141
|
T | G | 7 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.1299-2953A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572141 | ||||||
| chrX:19572194
|
T | TATATATG others(274): Show |
12 | a0001c0001t0001g0052a0001c0002t0001g0179a0001c0002t0002g0178others(9): Show | 12 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.1299-3007_1299-300 others(285): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572194 | ||||||
| chrX:19572214
|
C | T | 8 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0043others(5): Show | 8 | HG03239.hp1 HG03239.hp2 HG03831.hp1 others(5): Show |
intron_variant | MODIFIER | c.1299-3026G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572214 | ||||||
| chrX:19572232
|
CAT | C | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1299-3046_1299-304 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572232 | ||||||
| chrX:19572249
|
G | T | 2 | a0001c0001t0001g0022a0001c0003t0004g0180 | 2 | HG03516.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.1299-3061C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572249 | ||||||
| chrX:19572264
|
A | ATATAGAG others(272): Show |
1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1299-3077_1299-307 others(283): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572264 | ||||||
| chrX:19572289
|
CAT | C | 1 | a0001c0001t0007g0127 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1299-3103_1299-310 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572289 | ||||||
| chrX:19572342
|
TA | T | 2 | a0001c0001t0001g0040a0001c0001t0001g0042 | 2 | HG02257.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1299-3155delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572342 | ||||||
| chrX:19572347
|
CAT | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1299-3161_1299-316 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572347 | ||||||
| chrX:19572357
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1299-3169A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572357 | ||||||
| chrX:19572392
|
CAT | C | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1299-3206_1299-320 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572392 | ||||||
| chrX:19572414
|
C | CAT | 77 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(74): Show | 77 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(74): Show |
intron_variant | MODIFIER | c.1299-3228_1299-322 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572414 | ||||||
| chrX:19572430
|
T | C | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1299-3242A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572430 | ||||||
| chrX:19572443
|
G | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1299-3255C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572443 | ||||||
| chrX:19572490
|
TTA | T | 6 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0003g0057others(3): Show | 6 | HG01106.hp1 HG02622.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1299-3304_1299-330 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572490 | ||||||
| chrX:19572524
|
ACTCT | A | 1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1299-3340_1299-333 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572524 | ||||||
| chrX:19572836
|
G | A | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1299-3648C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572836 | ||||||
| chrX:19572873
|
C | G | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1299-3685G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572873 | ||||||
| chrX:19572899
|
C | T | 2 | a0001c0001t0001g0014a0001c0001t0001g0017 | 2 | HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1299-3711G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19572899 | ||||||
| chrX:19573120
|
T | A | 3 | a0001c0001t0001g0019a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG02622.hp2 HG02647.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1299-3932A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19573120 | ||||||
| chrX:19573448
|
G | T | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1299-4260C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19573448 | ||||||
| chrX:19573476
|
AG | A | 21 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(18): Show | 21 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.1299-4289delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19573476 | ||||||
| chrX:19573765
|
C | T | 68 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(65): Show | 68 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(65): Show |
intron_variant | MODIFIER | c.1299-4577G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19573765 | ||||||
| chrX:19573959
|
G | A | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG01934.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-4771C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19573959 | ||||||
| chrX:19574181
|
T | C | 83 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(80): Show | 83 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(80): Show |
intron_variant | MODIFIER | c.1299-4993A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19574181 | ||||||
| chrX:19574298
|
T | C | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1299-5110A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19574298 | ||||||
| chrX:19574679
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1299-5491A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19574679 | ||||||
| chrX:19574762
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1299-5574C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19574762 | ||||||
| chrX:19574763
|
C | T | 4 | a0001c0001t0001g0120a0001c0001t0001g0128a0001c0001t0001g0150others(1): Show | 4 | HG02056.hp1 HG02132.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-5575G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19574763 | ||||||
| chrX:19575086
|
G | A | 1 | a0001c0001t0001g0135 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1299-5898C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19575086 | ||||||
| chrX:19575619
|
A | G | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.1299-6431T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19575619 | ||||||
| chrX:19575833
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1299-6645C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19575833 | ||||||
| chrX:19576090
|
A | G | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(43): Show |
intron_variant | MODIFIER | c.1299-6902T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576090 | ||||||
| chrX:19576110
|
T | G | 11 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(8): Show | 11 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1299-6922A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576110 | ||||||
| chrX:19576230
|
T | C | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-7042A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576230 | ||||||
| chrX:19576234
|
T | C | 46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(43): Show |
intron_variant | MODIFIER | c.1299-7046A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576234 | ||||||
| chrX:19576338
|
C | T | 8 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(5): Show | 8 | HG01496.hp1 HG01884.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1299-7150G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576338 | ||||||
| chrX:19576423
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1299-7235G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576423 | ||||||
| chrX:19576437
|
T | TA | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.1299-7250dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576437 | ||||||
| chrX:19576448
|
G | A | 34 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0050others(31): Show | 34 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.1299-7260C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576448 | ||||||
| chrX:19576683
|
T | C | 11 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(8): Show | 11 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1299-7495A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576683 | ||||||
| chrX:19576753
|
C | T | 6 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(3): Show | 6 | HG02622.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1299-7565G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576753 | ||||||
| chrX:19576970
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1299-7782T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19576970 | ||||||
| chrX:19577003
|
C | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1299-7815G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577003 | ||||||
| chrX:19577478
|
T | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1299-8290A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577478 | ||||||
| chrX:19577554
|
C | G | 81 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(78): Show |
intron_variant | MODIFIER | c.1299-8366G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577554 | ||||||
| chrX:19577737
|
C | CA | 17 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0052others(14): Show | 17 | HG00733.hp1 HG01070.hp1 HG02486.hp1 others(14): Show |
intron_variant | MODIFIER | c.1299-8550dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577737 | ||||||
| chrX:19577737
|
CA | C | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1299-8550delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577737 | ||||||
| chrX:19577848
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1299-8660C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577848 | ||||||
| chrX:19577884
|
G | A | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1299-8696C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577884 | ||||||
| chrX:19577887
|
A | AC | 20 | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0034others(17): Show | 20 | HG00673.hp1 HG01106.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.1299-8700dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577887 | ||||||
| chrX:19577887
|
A | ACC | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1299-8701_1299-870 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577887 | ||||||
| chrX:19577887
|
A | ACCCC | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1299-8703_1299-870 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577887 | ||||||
| chrX:19577907
|
G | C | 7 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(4): Show | 7 | HG02258.hp1 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.1299-8719C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19577907 | ||||||
| chrX:19578212
|
A | G | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(62): Show |
intron_variant | MODIFIER | c.1299-9024T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19578212 | ||||||
| chrX:19578679
|
C | G | 3 | a0001c0001t0001g0019a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG02622.hp2 HG02647.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1299-9491G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19578679 | ||||||
| chrX:19579138
|
G | T | 33 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0050others(30): Show | 33 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.1298+9505C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19579138 | ||||||
| chrX:19579426
|
A | T | 4 | a0001c0001t0001g0052a0001c0002t0012g0186a0001c0003t0004g0180others(1): Show | 4 | HG02559.hp1 HG02922.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1298+9217T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19579426 | ||||||
| chrX:19579605
|
G | C | 1 | a0001c0001t0001g0044 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1298+9038C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19579605 | ||||||
| chrX:19580136
|
T | G | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1298+8507A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580136 | ||||||
| chrX:19580360
|
CACAAG | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1298+8278_1298+828 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580360 | ||||||
| chrX:19580493
|
C | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1298+8150G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580493 | ||||||
| chrX:19580679
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1298+7964C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580679 | ||||||
| chrX:19580800
|
C | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1298+7843G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580800 | ||||||
| chrX:19580866
|
C | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1298+7777G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580866 | ||||||
| chrX:19580940
|
C | CT | 1 | a0001c0001t0001g0164 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1298+7702dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19580940 | ||||||
| chrX:19581090
|
T | C | 3 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1298+7553A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581090 | ||||||
| chrX:19581137
|
A | T | 17 | a0001c0001t0001g0019a0001c0001t0003g0057a0001c0001t0003g0058others(14): Show | 17 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.1298+7506T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581137 | ||||||
| chrX:19581429
|
A | G | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1298+7214T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581429 | ||||||
| chrX:19581695
|
C | T | 4 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(1): Show | 4 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+6948G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581695 | ||||||
| chrX:19581746
|
T | C | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 64 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(61): Show |
intron_variant | MODIFIER | c.1298+6897A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581746 | ||||||
| chrX:19581853
|
T | TA | 11 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0041others(8): Show | 11 | HG01106.hp1 HG01981.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1298+6789dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581853 | ||||||
| chrX:19581853
|
TA | T | 12 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0031others(9): Show | 12 | HG01070.hp1 HG01070.hp2 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.1298+6789delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581853 | ||||||
| chrX:19581873
|
A | G | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1298+6770T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581873 | ||||||
| chrX:19581876
|
G | A | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | NA18943.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1298+6767C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581876 | ||||||
| chrX:19581949
|
G | C | 5 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(2): Show | 5 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(2): Show |
intron_variant | MODIFIER | c.1298+6694C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19581949 | ||||||
| chrX:19582164
|
G | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1298+6479C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19582164 | ||||||
| chrX:19582872
|
G | A | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1298+5771C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19582872 | ||||||
| chrX:19583006
|
G | A | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1298+5637C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583006 | ||||||
| chrX:19583125
|
C | CATT | 48 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0017others(45): Show | 48 | HG00639.hp1 HG00642.hp1 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.1298+5515_1298+551 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
C | CATTATT | 45 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0066others(42): Show | 45 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(42): Show |
intron_variant | MODIFIER | c.1298+5512_1298+551 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
C | CATTATTA others(2): Show |
7 | a0001c0001t0001g0072a0001c0001t0001g0154a0001c0001t0001g0155others(4): Show | 7 | HG01496.hp2 HG02071.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1298+5509_1298+551 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATT | C | 20 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0104others(17): Show | 20 | HG00673.hp1 HG01884.hp1 HG02132.hp1 others(17): Show |
intron_variant | MODIFIER | c.1298+5515_1298+551 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATTATT | C | 19 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0087others(16): Show | 19 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.1298+5512_1298+551 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATTATTA others(2): Show |
C | 2 | a0001c0001t0001g0098a0001c0001t0001g0192 | 2 | HG02451.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.1298+5509_1298+551 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATTATTA others(5): Show |
C | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1298+5506_1298+551 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATTATTA others(8): Show |
C | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.1298+5503_1298+551 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583125
|
CATTATTA others(11): Show |
C | 4 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0041others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+5500_1298+551 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583125 | ||||||
| chrX:19583129
|
A | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1298+5514T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583129 | ||||||
| chrX:19583132
|
A | C | 4 | a0001c0002t0012g0186a0001c0003t0001g0049a0001c0003t0001g0051others(1): Show | 4 | HG01106.hp1 HG02559.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+5511T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583132 | ||||||
| chrX:19583138
|
A | C | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1298+5505T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583138 | ||||||
| chrX:19583141
|
A | C | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.1298+5502T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583141 | ||||||
| chrX:19583355
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+5288T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583355 | ||||||
| chrX:19583466
|
T | C | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1298+5177A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583466 | ||||||
| chrX:19583593
|
G | A | 1 | a0003c0005t0001g0157 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1298+5050C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583593 | ||||||
| chrX:19583779
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1298+4864C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583779 | ||||||
| chrX:19583831
|
CTAATA | C | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1298+4807_1298+481 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583831 | ||||||
| chrX:19583839
|
TTTA | T | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1298+4801_1298+480 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583839 | ||||||
| chrX:19583996
|
TAAC | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1298+4644_1298+464 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19583996 | ||||||
| chrX:19584067
|
TAG | T | 19 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(16): Show | 19 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.1298+4574_1298+457 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584067 | ||||||
| chrX:19584137
|
A | AATATATA others(43): Show |
1 | a0001c0001t0001g0042 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1298+4456_1298+450 others(54): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584137 | ||||||
| chrX:19584197
|
AAT | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+4444_1298+444 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584197 | ||||||
| chrX:19584225
|
T | C | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1298+4418A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584225 | ||||||
| chrX:19584236
|
A | C | 3 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | HG02015.hp1 HG03017.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.1298+4407T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584236 | ||||||
| chrX:19584269
|
TTA | T | 80 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(77): Show | 80 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(77): Show |
intron_variant | MODIFIER | c.1298+4372_1298+437 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584269 | ||||||
| chrX:19584297
|
ATATTTAT others(7): Show |
A | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1298+4332_1298+434 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584297 | ||||||
| chrX:19584301
|
T | A | 68 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(65): Show | 68 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(65): Show |
intron_variant | MODIFIER | c.1298+4342A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584301 | ||||||
| chrX:19584425
|
GT | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+4217delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584425 | ||||||
| chrX:19584464
|
A | G | 83 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(80): Show | 83 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(80): Show |
intron_variant | MODIFIER | c.1298+4179T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584464 | ||||||
| chrX:19584571
|
T | C | 69 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(66): Show | 69 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(66): Show |
intron_variant | MODIFIER | c.1298+4072A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19584571 | ||||||
| chrX:19585204
|
ATACTAAA others(2): Show |
A | 4 | a0001c0001t0001g0152a0001c0002t0012g0186a0001c0003t0004g0180others(1): Show | 4 | HG02559.hp1 HG03486.hp2 NA19091.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+3430_1298+343 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585204 | ||||||
| chrX:19585690
|
C | CCAG | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(41): Show | 44 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(41): Show |
intron_variant | MODIFIER | c.1298+2950_1298+295 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585690 | ||||||
| chrX:19585690
|
C | CCAGCAG | 4 | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0047others(1): Show | 4 | HG01109.hp1 HG02809.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+2947_1298+295 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585690 | ||||||
| chrX:19585690
|
CCAG | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1298+2950_1298+295 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585690 | ||||||
| chrX:19585854
|
G | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02486.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1298+2789C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585854 | ||||||
| chrX:19585884
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1298+2759C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19585884 | ||||||
| chrX:19586428
|
A | G | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG01934.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+2215T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19586428 | ||||||
| chrX:19586524
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1298+2119G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19586524 | ||||||
| chrX:19586540
|
T | C | 1 | a0001c0001t0001g0174 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1298+2103A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19586540 | ||||||
| chrX:19586551
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1298+2092A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19586551 | ||||||
| chrX:19586944
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1298+1699C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19586944 | ||||||
| chrX:19587051
|
A | G | 33 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0050others(30): Show | 33 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.1298+1592T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587051 | ||||||
| chrX:19587171
|
G | C | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1298+1472C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587171 | ||||||
| chrX:19587179
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1298+1464C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587179 | ||||||
| chrX:19587222
|
C | CA | 18 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0059others(15): Show | 18 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1298+1420dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587222 | ||||||
| chrX:19587222
|
C | CAA | 2 | a0001c0001t0001g0181a0001c0001t0001g0195 | 2 | HG01891.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1298+1419_1298+142 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587222 | ||||||
| chrX:19587333
|
G | A | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1298+1310C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587333 | ||||||
| chrX:19587612
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+1031G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587612 | ||||||
| chrX:19587973
|
T | C | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1298+670A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19587973 | ||||||
| chrX:19588239
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1298+404C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19588239 | ||||||
| chrX:19588466
|
G | C | 6 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(3): Show | 6 | HG02622.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1298+177C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19588466 | ||||||
| chrX:19588466
|
G | T | 7 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.1298+177C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | 19588466 | ||||||
| chrX:19588836
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1139-34G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19588836 | ||||||
| chrX:19588881
|
TA | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1139-80delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19588881 | ||||||
| chrX:19588883
|
A | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1139-81T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19588883 | ||||||
| chrX:19589080
|
C | G | 1 | a0001c0001t0001g0151 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1139-278G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589080 | ||||||
| chrX:19589213
|
T | C | 1 | a0001c0001t0001g0020 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1139-411A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589213 | ||||||
| chrX:19589326
|
G | C | 7 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.1139-524C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589326 | ||||||
| chrX:19589816
|
T | TA | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1139-1015dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589816 | ||||||
| chrX:19589831
|
C | A | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1139-1029G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589831 | ||||||
| chrX:19589853
|
C | T | 2 | a0001c0001t0001g0102a0001c0001t0001g0112 | 2 | HG03654.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1139-1051G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589853 | ||||||
| chrX:19589873
|
G | A | 3 | a0001c0001t0001g0019a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG02622.hp2 HG02647.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1139-1071C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589873 | ||||||
| chrX:19589977
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1139-1175C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19589977 | ||||||
| chrX:19590003
|
C | T | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1139-1201G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590003 | ||||||
| chrX:19590017
|
G | A | 6 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(3): Show | 6 | HG02622.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1139-1215C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590017 | ||||||
| chrX:19590646
|
A | AC | 1 | a0001c0002t0002g0188 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1138+1420dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590646 | ||||||
| chrX:19590647
|
C | CT | 2 | a0001c0001t0001g0079a0001c0001t0001g0134 | 2 | HG02738.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.1138+1419dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590647 | ||||||
| chrX:19590647
|
CT | C | 1 | a0001c0001t0001g0046 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1138+1419delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590647 | ||||||
| chrX:19590670
|
G | T | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1138+1397C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590670 | ||||||
| chrX:19590809
|
A | AT | 62 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(59): Show | 62 | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.1138+1257dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
A | ATT | 14 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0047others(11): Show | 14 | HG00642.hp1 HG01256.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.1138+1256_1138+125 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
A | ATTT | 2 | a0001c0001t0001g0046a0001c0001t0001g0078 | 2 | HG02897.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1138+1255_1138+125 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
AT | A | 16 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0033others(13): Show | 16 | HG00733.hp1 HG01496.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.1138+1257delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
ATT | A | 19 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0050others(16): Show | 19 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.1138+1256_1138+125 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
ATTT | A | 2 | a0001c0003t0001g0049a0001c0006t0001g0054 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1138+1255_1138+125 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590809
|
ATTTTTTT others(6): Show |
A | 2 | a0001c0001t0001g0114a0001c0001t0001g0123 | 2 | NA18966.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1138+1245_1138+125 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590809 | ||||||
| chrX:19590867
|
G | A | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1138+1200C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590867 | ||||||
| chrX:19590887
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1138+1180G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590887 | ||||||
| chrX:19590909
|
G | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1138+1158C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19590909 | ||||||
| chrX:19591405
|
T | C | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1138+662A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19591405 | ||||||
| chrX:19591501
|
G | A | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1138+566C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19591501 | ||||||
| chrX:19591773
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1138+294G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 11/17 | chrX | 19591773 | ||||||
| chrX:19592479
|
A | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1058-332T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19592479 | ||||||
| chrX:19592867
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1058-720C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19592867 | ||||||
| chrX:19592982
|
C | T | 14 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(11): Show | 14 | HG02486.hp1 HG02615.hp2 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.1058-835G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19592982 | ||||||
| chrX:19593668
|
G | A | 13 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(10): Show | 13 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1057+1281C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19593668 | ||||||
| chrX:19594027
|
T | C | 27 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(24): Show | 27 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(24): Show |
intron_variant | MODIFIER | c.1057+922A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594027 | ||||||
| chrX:19594032
|
T | C | 39 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(36): Show | 39 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.1057+917A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594032 | ||||||
| chrX:19594603
|
A | T | 20 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(17): Show | 20 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(17): Show |
intron_variant | MODIFIER | c.1057+346T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594603 | ||||||
| chrX:19594674
|
G | T | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1057+275C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594674 | ||||||
| chrX:19594675
|
T | C | 1 | a0001c0001t0001g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1057+274A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594675 | ||||||
| chrX:19594737
|
C | G | 1 | a0001c0001t0001g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1057+212G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594737 | ||||||
| chrX:19594739
|
A | G | 11 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(8): Show | 11 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1057+210T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594739 | ||||||
| chrX:19594821
|
C | T | 19 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(16): Show | 19 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.1057+128G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 10/17 | chrX | 19594821 | ||||||
| chrX:19595132
|
T | G | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1006-132A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595132 | ||||||
| chrX:19595270
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1006-270C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595270 | ||||||
| chrX:19595286
|
C | T | 29 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(26): Show | 29 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.1006-286G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595286 | ||||||
| chrX:19595590
|
G | GT | 15 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(12): Show | 15 | HG00733.hp1 HG02056.hp1 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.1006-591dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595590 | ||||||
| chrX:19595590
|
G | T | 1 | a0001c0001t0001g0162 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1006-590C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595590 | ||||||
| chrX:19595628
|
T | C | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1006-628A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595628 | ||||||
| chrX:19595758
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1006-758G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595758 | ||||||
| chrX:19595890
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1006-890T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595890 | ||||||
| chrX:19595926
|
A | G | 21 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(18): Show | 21 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.1006-926T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595926 | ||||||
| chrX:19595998
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1006-998C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19595998 | ||||||
| chrX:19596094
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1006-1094C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19596094 | ||||||
| chrX:19596347
|
C | T | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1006-1347G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19596347 | ||||||
| chrX:19596542
|
T | C | 7 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.1006-1542A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19596542 | ||||||
| chrX:19596652
|
C | T | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(75): Show |
intron_variant | MODIFIER | c.1006-1652G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19596652 | ||||||
| chrX:19597611
|
G | A | 2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1006-2611C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19597611 | ||||||
| chrX:19597614
|
T | C | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1006-2614A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19597614 | ||||||
| chrX:19597779
|
A | G | 1 | a0001c0001t0001g0182 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1006-2779T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19597779 | ||||||
| chrX:19597960
|
G | C | 18 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0003g0057others(15): Show | 18 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.1006-2960C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19597960 | ||||||
| chrX:19598118
|
G | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1006-3118C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598118 | ||||||
| chrX:19598229
|
T | TTTTA | 21 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0022others(18): Show | 21 | HG00621.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.1006-3233_1006-323 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598229 | ||||||
| chrX:19598229
|
T | TTTTATTT others(1): Show |
7 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0101others(4): Show | 7 | HG02818.hp2 HG02897.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1006-3237_1006-323 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598229 | ||||||
| chrX:19598229
|
T | TTTTATTT others(5): Show |
1 | a0001c0002t0002g0190 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1006-3241_1006-323 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598229 | ||||||
| chrX:19598229
|
TTTTA | T | 20 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0018others(17): Show | 20 | HG01258.hp1 HG01346.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.1006-3233_1006-323 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598229 | ||||||
| chrX:19598229
|
TTTTATTT others(1): Show |
T | 27 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(24): Show | 27 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(24): Show |
intron_variant | MODIFIER | c.1006-3237_1006-323 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598229 | ||||||
| chrX:19598286
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1006-3286G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598286 | ||||||
| chrX:19598729
|
T | A | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1006-3729A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598729 | ||||||
| chrX:19598848
|
A | G | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1006-3848T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19598848 | ||||||
| chrX:19599014
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(5): Show | 8 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1006-4014T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599014 | ||||||
| chrX:19599023
|
T | C | 1 | a0004c0008t0001g0030 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1006-4023A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599023 | ||||||
| chrX:19599099
|
C | G | 1 | a0001c0001t0001g0089 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1006-4099G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599099 | ||||||
| chrX:19599234
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1006-4234G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599234 | ||||||
| chrX:19599241
|
T | TA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1006-4242dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599241 | ||||||
| chrX:19599316
|
G | A | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1006-4316C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599316 | ||||||
| chrX:19599326
|
G | C | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1006-4326C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599326 | ||||||
| chrX:19599342
|
T | TGAA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1006-4345_1006-434 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599342 | ||||||
| chrX:19599497
|
G | A | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1006-4497C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599497 | ||||||
| chrX:19599556
|
T | C | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1006-4556A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599556 | ||||||
| chrX:19599618
|
A | C | 41 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(38): Show | 41 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.1006-4618T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599618 | ||||||
| chrX:19599686
|
T | C | 4 | a0001c0001t0001g0019a0001c0001t0001g0175a0001c0001t0003g0057others(1): Show | 4 | HG02622.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1006-4686A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599686 | ||||||
| chrX:19599788
|
G | A | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1006-4788C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599788 | ||||||
| chrX:19599919
|
G | A | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1006-4919C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19599919 | ||||||
| chrX:19600050
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1006-5050C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600050 | ||||||
| chrX:19600095
|
C | CA | 77 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(74): Show | 77 | HG00280.hp1 HG00621.hp1 HG00639.hp2 others(74): Show |
intron_variant | MODIFIER | c.1006-5096dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600095 | ||||||
| chrX:19600095
|
C | CAA | 25 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0015others(22): Show | 25 | HG01071.hp2 HG01884.hp1 HG01975.hp2 others(22): Show |
intron_variant | MODIFIER | c.1006-5097_1006-509 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600095 | ||||||
| chrX:19600095
|
C | CAAA | 3 | a0001c0001t0001g0008a0001c0001t0001g0040a0001c0001t0001g0181 | 3 | HG02257.hp2 HG02886.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1006-5098_1006-509 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600095 | ||||||
| chrX:19600095
|
CAAAAAAA | C | 1 | a0001c0001t0001g0117 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1006-5102_1006-509 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600095 | ||||||
| chrX:19600386
|
T | TA | 2 | a0001c0001t0001g0196a0001c0001t0001g0201 | 2 | NA19240.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1006-5387dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19600386 | ||||||
| chrX:19601199
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1006-6199T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601199 | ||||||
| chrX:19601370
|
T | A | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1006-6370A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601370 | ||||||
| chrX:19601722
|
C | G | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1005+6216G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601722 | ||||||
| chrX:19601844
|
C | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1005+6094G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601844 | ||||||
| chrX:19601853
|
T | A | 5 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | HG02451.hp2 HG02559.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1005+6085A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601853 | ||||||
| chrX:19601939
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1005+5999G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19601939 | ||||||
| chrX:19602515
|
C | A | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1005+5423G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19602515 | ||||||
| chrX:19602808
|
C | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1005+5130G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19602808 | ||||||
| chrX:19602825
|
A | G | 1 | a0001c0001t0001g0078 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1005+5113T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19602825 | ||||||
| chrX:19602915
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1005+5023G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19602915 | ||||||
| chrX:19602967
|
T | TA | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1005+4970dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19602967 | ||||||
| chrX:19603289
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1005+4649G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603289 | ||||||
| chrX:19603454
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1005+4484G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603454 | ||||||
| chrX:19603464
|
G | A | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1005+4474C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603464 | ||||||
| chrX:19603561
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1005+4377A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603561 | ||||||
| chrX:19603756
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1005+4182G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603756 | ||||||
| chrX:19603778
|
T | C | 79 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(76): Show |
intron_variant | MODIFIER | c.1005+4160A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603778 | ||||||
| chrX:19603794
|
C | T | 6 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00733.hp1 HG02630.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.1005+4144G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19603794 | ||||||
| chrX:19604006
|
T | C | 67 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(64): Show | 67 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(64): Show |
intron_variant | MODIFIER | c.1005+3932A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19604006 | ||||||
| chrX:19604120
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1005+3818G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19604120 | ||||||
| chrX:19604254
|
A | G | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1005+3684T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19604254 | ||||||
| chrX:19604360
|
A | C | 5 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | HG02451.hp2 HG02559.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1005+3578T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19604360 | ||||||
| chrX:19604890
|
C | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1005+3048G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19604890 | ||||||
| chrX:19605110
|
A | G | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1005+2828T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605110 | ||||||
| chrX:19605399
|
T | A | 1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1005+2539A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605399 | ||||||
| chrX:19605416
|
C | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.1005+2522G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605416 | ||||||
| chrX:19605458
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1005+2480T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605458 | ||||||
| chrX:19605562
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1005+2376C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605562 | ||||||
| chrX:19605912
|
C | T | 69 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(66): Show | 69 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(66): Show |
intron_variant | MODIFIER | c.1005+2026G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605912 | ||||||
| chrX:19605998
|
G | C | 26 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(23): Show | 26 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(23): Show |
intron_variant | MODIFIER | c.1005+1940C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19605998 | ||||||
| chrX:19606060
|
C | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1005+1878G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606060 | ||||||
| chrX:19606377
|
C | T | 23 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 23 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(20): Show |
intron_variant | MODIFIER | c.1005+1561G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606377 | ||||||
| chrX:19606383
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1005+1555G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606383 | ||||||
| chrX:19606731
|
G | T | 1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1005+1207C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606731 | ||||||
| chrX:19606737
|
T | TC | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1005+1200dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606737 | ||||||
| chrX:19606931
|
CA | C | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1005+1006delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19606931 | ||||||
| chrX:19607000
|
G | A | 5 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | HG02451.hp2 HG02559.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1005+938C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19607000 | ||||||
| chrX:19607217
|
TG | T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1005+720delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19607217 | ||||||
| chrX:19607708
|
C | T | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1005+230G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19607708 | ||||||
| chrX:19607812
|
G | T | 19 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(16): Show | 19 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.1005+126C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19607812 | ||||||
| chrX:19607842
|
ATGC | A | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1005+93_1005+95del others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 9/17 | chrX | 19607842 | ||||||
| chrX:19608113
|
C | T | 36 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(33): Show | 36 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.898-68G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608113 | ||||||
| chrX:19608138
|
T | C | 1 | a0001c0001t0001g0092 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.898-93A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608138 | ||||||
| chrX:19608306
|
C | CT | 37 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(34): Show | 37 | HG00280.hp1 HG00733.hp1 HG01106.hp1 others(34): Show |
intron_variant | MODIFIER | c.898-262dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608306 | ||||||
| chrX:19608306
|
C | CTT | 13 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0059others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.898-263_898-262dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608306 | ||||||
| chrX:19608306
|
C | CTTT | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.898-264_898-262dup others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608306 | ||||||
| chrX:19608306
|
CT | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0006g0103others(1): Show | 4 | HG01517.hp2 HG02735.hp1 NA19009.hp1 others(1): Show |
intron_variant | MODIFIER | c.898-262delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608306 | ||||||
| chrX:19608310
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.898-265A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608310 | ||||||
| chrX:19608332
|
A | G | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.898-287T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608332 | ||||||
| chrX:19608399
|
C | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.898-354G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608399 | ||||||
| chrX:19608501
|
G | GT | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.898-457dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608501 | ||||||
| chrX:19608601
|
G | A | 4 | a0001c0001t0001g0019a0001c0001t0003g0057a0001c0001t0003g0058others(1): Show | 4 | HG02622.hp2 HG02647.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.898-556C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608601 | ||||||
| chrX:19608864
|
G | GT | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.898-820dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19608864 | ||||||
| chrX:19609004
|
C | T | 4 | a0001c0003t0001g0049a0001c0003t0001g0051a0001c0003t0004g0180others(1): Show | 4 | HG01106.hp1 HG03195.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.898-959G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609004 | ||||||
| chrX:19609284
|
T | C | 1 | a0001c0001t0001g0144 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.898-1239A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609284 | ||||||
| chrX:19609448
|
C | T | 69 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(66): Show | 69 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(66): Show |
intron_variant | MODIFIER | c.898-1403G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609448 | ||||||
| chrX:19609510
|
C | CA | 1 | a0001c0001t0001g0046 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.898-1466dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609510 | ||||||
| chrX:19609784
|
A | C | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.898-1739T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609784 | ||||||
| chrX:19609844
|
A | T | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.898-1799T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609844 | ||||||
| chrX:19609871
|
C | G | 50 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(47): Show | 50 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(47): Show |
intron_variant | MODIFIER | c.898-1826G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19609871 | ||||||
| chrX:19610020
|
CT | C | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.898-1976delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610020 | ||||||
| chrX:19610095
|
C | T | 1 | a0001c0001t0001g0139 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.898-2050G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610095 | ||||||
| chrX:19610232
|
G | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.898-2187C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610232 | ||||||
| chrX:19610394
|
AAG | A | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.898-2351_898-2350d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610394 | ||||||
| chrX:19610810
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.898-2765C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610810 | ||||||
| chrX:19610852
|
G | GA | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.898-2808dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610852 | ||||||
| chrX:19610875
|
C | CA | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.898-2831dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610875 | ||||||
| chrX:19610878
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.898-2833T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19610878 | ||||||
| chrX:19611182
|
G | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.898-3137C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611182 | ||||||
| chrX:19611297
|
G | A | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.898-3252C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611297 | ||||||
| chrX:19611325
|
G | GT | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.898-3281dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611325 | ||||||
| chrX:19611337
|
G | T | 3 | a0001c0001t0001g0067a0001c0001t0001g0131a0001c0010t0001g0199 | 3 | HG01884.hp1 NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.898-3292C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611337 | ||||||
| chrX:19611378
|
C | T | 79 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(76): Show |
intron_variant | MODIFIER | c.898-3333G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611378 | ||||||
| chrX:19611430
|
T | TGCAAC | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.898-3390_898-3386d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611430 | ||||||
| chrX:19611629
|
T | C | 8 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(5): Show | 8 | HG01106.hp1 HG02622.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.898-3584A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611629 | ||||||
| chrX:19611685
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.898-3640C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611685 | ||||||
| chrX:19611730
|
T | C | 2 | a0001c0001t0001g0129a0001c0001t0001g0163 | 2 | NA18944.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.898-3685A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611730 | ||||||
| chrX:19611956
|
G | GA | 27 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(24): Show | 27 | HG00733.hp1 HG01517.hp2 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.898-3912dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
G | GAA | 39 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0015others(36): Show | 39 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(36): Show |
intron_variant | MODIFIER | c.898-3913_898-3912d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
G | GAAA | 5 | a0001c0001t0001g0022a0001c0001t0001g0099a0001c0001t0010g0004others(2): Show | 5 | HG01106.hp1 HG02055.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.898-3914_898-3912d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
G | GAAAA | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.898-3915_898-3912d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
G | GAAAAAA | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.898-3917_898-3912d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
G | GAAAAAAA | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.898-3918_898-3912d others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
GA | G | 6 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0131others(3): Show | 6 | HG02451.hp2 HG02615.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.898-3912delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
GAA | G | 1 | a0001c0001t0001g0067 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.898-3913_898-3912d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611956
|
GAAAAAAA | G | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.898-3918_898-3912d others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611956 | ||||||
| chrX:19611957
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.898-3912T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19611957 | ||||||
| chrX:19612181
|
G | T | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.898-4136C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612181 | ||||||
| chrX:19612333
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.898-4288C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612333 | ||||||
| chrX:19612468
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.898-4423C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612468 | ||||||
| chrX:19612569
|
G | A | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(75): Show |
intron_variant | MODIFIER | c.898-4524C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612569 | ||||||
| chrX:19612636
|
T | A | 2 | a0001c0001t0001g0089a0001c0001t0001g0177 | 2 | HG00642.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.898-4591A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612636 | ||||||
| chrX:19612637
|
A | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.898-4592T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19612637 | ||||||
| chrX:19613143
|
C | T | 19 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(16): Show | 19 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.898-5098G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613143 | ||||||
| chrX:19613273
|
G | A | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.898-5228C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613273 | ||||||
| chrX:19613419
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.898-5374C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613419 | ||||||
| chrX:19613428
|
T | C | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.898-5383A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613428 | ||||||
| chrX:19613435
|
A | G | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(24): Show | 27 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(24): Show |
intron_variant | MODIFIER | c.898-5390T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613435 | ||||||
| chrX:19613713
|
T | G | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.898-5668A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613713 | ||||||
| chrX:19613817
|
G | A | 1 | a0001c0001t0001g0118 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.898-5772C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613817 | ||||||
| chrX:19613917
|
A | G | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.898-5872T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19613917 | ||||||
| chrX:19614261
|
G | A | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.898-6216C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19614261 | ||||||
| chrX:19614631
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.898-6586A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19614631 | ||||||
| chrX:19614660
|
G | T | 31 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0050others(28): Show | 31 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.898-6615C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19614660 | ||||||
| chrX:19614770
|
G | T | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.898-6725C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19614770 | ||||||
| chrX:19615047
|
C | A | 76 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(73): Show | 76 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(73): Show |
intron_variant | MODIFIER | c.898-7002G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19615047 | ||||||
| chrX:19615150
|
A | C | 2 | a0001c0001t0001g0033a0004c0008t0001g0030 | 2 | NA18979.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.898-7105T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19615150 | ||||||
| chrX:19615890
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.898-7845C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19615890 | ||||||
| chrX:19615917
|
C | CT | 6 | a0001c0001t0001g0034a0001c0001t0001g0059a0001c0001t0001g0065others(3): Show | 6 | HG01109.hp1 HG01243.hp1 HG01952.hp1 others(3): Show |
intron_variant | MODIFIER | c.898-7873dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19615917 | ||||||
| chrX:19615917
|
CT | C | 21 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0031others(18): Show | 21 | HG01106.hp1 HG01167.hp1 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.898-7873delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19615917 | ||||||
| chrX:19616003
|
G | A | 9 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(6): Show | 9 | HG01106.hp1 HG02622.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.898-7958C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616003 | ||||||
| chrX:19616322
|
A | G | 2 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.898-8277T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616322 | ||||||
| chrX:19616435
|
C | CA | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.898-8391dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616435 | ||||||
| chrX:19616446
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0090 | 2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.898-8401A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616446 | ||||||
| chrX:19616656
|
T | C | 1 | a0001c0001t0001g0163 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.898-8611A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616656 | ||||||
| chrX:19616664
|
T | G | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.898-8619A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19616664 | ||||||
| chrX:19617126
|
CTTTG | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.898-9085_898-9082d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617126 | ||||||
| chrX:19617211
|
T | C | 1 | a0001c0001t0001g0142 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.898-9166A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617211 | ||||||
| chrX:19617241
|
G | C | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.898-9196C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617241 | ||||||
| chrX:19617320
|
C | T | 19 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(16): Show | 19 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.898-9275G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617320 | ||||||
| chrX:19617511
|
T | G | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.898-9466A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617511 | ||||||
| chrX:19617738
|
G | A | 1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.898-9693C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617738 | ||||||
| chrX:19617843
|
A | G | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02559.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.898-9798T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617843 | ||||||
| chrX:19617927
|
A | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.898-9882T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19617927 | ||||||
| chrX:19618159
|
G | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.898-10114C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618159 | ||||||
| chrX:19618213
|
G | A | 5 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | HG02451.hp2 HG02559.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.898-10168C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618213 | ||||||
| chrX:19618360
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.898-10315C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618360 | ||||||
| chrX:19618385
|
C | CA | 50 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(47): Show | 50 | HG00280.hp1 HG00609.hp1 HG00733.hp1 others(47): Show |
intron_variant | MODIFIER | c.898-10341dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618385
|
C | CAA | 11 | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0019others(8): Show | 11 | HG01109.hp1 HG01123.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.898-10342_898-1034 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618385
|
C | CAAA | 9 | a0001c0002t0002g0178a0001c0002t0002g0187a0001c0002t0002g0189others(6): Show | 9 | HG01106.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.898-10343_898-1034 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618385
|
C | CAAAA | 4 | a0001c0002t0001g0179a0001c0002t0002g0188a0001c0002t0012g0186others(1): Show | 4 | HG02559.hp1 HG02630.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.898-10344_898-1034 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618385
|
C | CAAAAA | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.898-10345_898-1034 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618385
|
CA | C | 5 | a0001c0001t0001g0060a0001c0001t0001g0167a0001c0001t0001g0170others(2): Show | 5 | HG01069.hp1 HG02451.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.898-10341delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618385 | ||||||
| chrX:19618400
|
A | C | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.898-10355T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618400 | ||||||
| chrX:19618427
|
C | G | 1 | a0001c0001t0001g0140 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.898-10382G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618427 | ||||||
| chrX:19618977
|
C | CA | 3 | a0001c0001t0001g0109a0001c0001t0001g0165a0001c0001t0001g0203 | 3 | HG02572.hp1 HG03492.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.898-10933dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618977 | ||||||
| chrX:19618977
|
CA | C | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(71): Show |
intron_variant | MODIFIER | c.898-10933delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19618977 | ||||||
| chrX:19619004
|
G | A | 4 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(1): Show | 4 | HG02258.hp1 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.898-10959C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19619004 | ||||||
| chrX:19619132
|
T | G | 4 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(1): Show | 4 | HG00733.hp1 HG03098.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.898-11087A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19619132 | ||||||
| chrX:19619144
|
C | T | 36 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(33): Show | 36 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(33): Show |
intron_variant | MODIFIER | c.898-11099G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19619144 | ||||||
| chrX:19619152
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.898-11107A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19619152 | ||||||
| chrX:19619208
|
G | A | 43 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(40): Show | 43 | HG00639.hp2 HG00733.hp1 HG01123.hp1 others(40): Show |
intron_variant | MODIFIER | c.898-11163C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19619208 | ||||||
| chrX:19620246
|
G | C | 18 | a0001c0001t0001g0019a0001c0001t0001g0053a0001c0001t0003g0057others(15): Show | 18 | HG01106.hp1 HG02486.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.897+11618C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19620246 | ||||||
| chrX:19620555
|
C | T | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.897+11309G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19620555 | ||||||
| chrX:19620694
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.897+11170G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19620694 | ||||||
| chrX:19620859
|
T | C | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.897+11005A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19620859 | ||||||
| chrX:19621012
|
G | GT | 17 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(14): Show | 17 | HG00733.hp1 HG01071.hp2 HG01496.hp1 others(14): Show |
intron_variant | MODIFIER | c.897+10851dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621012 | ||||||
| chrX:19621012
|
G | GTT | 48 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0018others(45): Show | 48 | HG00639.hp2 HG01070.hp2 HG01109.hp1 others(45): Show |
intron_variant | MODIFIER | c.897+10850_897+1085 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621012 | ||||||
| chrX:19621012
|
G | GTTT | 2 | a0001c0001t0001g0034a0001c0001t0001g0167 | 2 | HG01243.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.897+10849_897+1085 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621012 | ||||||
| chrX:19621012
|
GT | G | 1 | a0001c0001t0001g0155 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.897+10851delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621012 | ||||||
| chrX:19621014
|
T | TTTG | 3 | a0001c0003t0001g0049a0001c0003t0001g0051a0001c0003t0013g0068 | 3 | HG01106.hp1 HG03195.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.897+10849_897+1085 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621014 | ||||||
| chrX:19621015
|
T | TTG | 16 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(13): Show | 16 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.897+10848_897+1084 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621015 | ||||||
| chrX:19621050
|
T | TGC | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.897+10812_897+1081 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621050 | ||||||
| chrX:19621073
|
C | CT | 7 | a0001c0001t0001g0033a0001c0001t0001g0184a0001c0001t0001g0192others(4): Show | 7 | HG01106.hp1 HG02451.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.897+10790dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621073 | ||||||
| chrX:19621073
|
CT | C | 4 | a0001c0001t0001g0038a0001c0001t0001g0083a0001c0001t0001g0148others(1): Show | 4 | HG02040.hp1 HG02622.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.897+10790delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621073 | ||||||
| chrX:19621076
|
T | TC | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.897+10787_897+1078 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621076 | ||||||
| chrX:19621077
|
T | C | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.897+10787A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621077 | ||||||
| chrX:19621238
|
CTAATTT | C | 4 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(1): Show | 4 | HG00140.hp1 HG00733.hp2 HG01069.hp1 others(1): Show |
intron_variant | MODIFIER | c.897+10620_897+1062 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621238 | ||||||
| chrX:19621241
|
AT | A | 93 | a0001c0001t0001g0012a0001c0001t0001g0063a0001c0001t0001g0064others(90): Show | 93 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(90): Show |
intron_variant | MODIFIER | c.897+10622delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621241 | ||||||
| chrX:19621241
|
ATT | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 64 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(61): Show |
intron_variant | MODIFIER | c.897+10621_897+1062 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621241 | ||||||
| chrX:19621241
|
ATTT | A | 29 | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0019others(26): Show | 29 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.897+10620_897+1062 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621241 | ||||||
| chrX:19621599
|
T | TA | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(37): Show | 40 | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.897+10264dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19621599 | ||||||
| chrX:19622263
|
T | G | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.897+9601A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19622263 | ||||||
| chrX:19622780
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.897+9084G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19622780 | ||||||
| chrX:19622992
|
G | A | 24 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(21): Show | 24 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(21): Show |
intron_variant | MODIFIER | c.897+8872C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19622992 | ||||||
| chrX:19623042
|
C | CA | 14 | a0001c0001t0001g0020a0001c0001t0001g0056a0001c0001t0001g0073others(11): Show | 14 | HG00738.hp1 HG01123.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.897+8821dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623042 | ||||||
| chrX:19623042
|
C | CAA | 1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.897+8820_897+8821d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623042 | ||||||
| chrX:19623042
|
CA | C | 16 | a0001c0001t0001g0047a0001c0001t0001g0125a0001c0001t0001g0129others(13): Show | 16 | HG01106.hp1 HG02486.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.897+8821delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623042 | ||||||
| chrX:19623042
|
CAA | C | 6 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(3): Show | 6 | HG02622.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.897+8820_897+8821d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623042 | ||||||
| chrX:19623042
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0169 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.897+8811_897+8821d others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623042 | ||||||
| chrX:19623332
|
G | GT | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.897+8531dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623332 | ||||||
| chrX:19623340
|
CA | C | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.897+8523delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623340 | ||||||
| chrX:19623460
|
C | T | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.897+8404G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623460 | ||||||
| chrX:19623970
|
A | G | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.897+7894T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19623970 | ||||||
| chrX:19624512
|
C | T | 60 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(57): Show | 60 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.897+7352G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19624512 | ||||||
| chrX:19624706
|
A | G | 2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.897+7158T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19624706 | ||||||
| chrX:19624812
|
A | G | 1 | a0001c0002t0002g0188 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.897+7052T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19624812 | ||||||
| chrX:19625187
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.897+6677C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625187 | ||||||
| chrX:19625333
|
AT | A | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.897+6530delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625333 | ||||||
| chrX:19625342
|
TG | T | 3 | a0001c0001t0001g0177a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.897+6521delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625342 | ||||||
| chrX:19625343
|
G | T | 15 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0053others(12): Show | 15 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.897+6521C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625343 | ||||||
| chrX:19625344
|
C | T | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.897+6520G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625344 | ||||||
| chrX:19625359
|
T | A | 1 | a0001c0001t0001g0066 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.897+6505A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625359 | ||||||
| chrX:19625761
|
ACT | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.897+6101_897+6102d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625761 | ||||||
| chrX:19625829
|
C | T | 10 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(7): Show | 10 | HG01070.hp1 HG02258.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.897+6035G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19625829 | ||||||
| chrX:19626070
|
G | C | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.897+5794C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626070 | ||||||
| chrX:19626383
|
T | TATGA | 27 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(24): Show | 27 | HG00639.hp2 HG01109.hp1 HG01123.hp1 others(24): Show |
intron_variant | MODIFIER | c.897+5477_897+5480d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626383 | ||||||
| chrX:19626383
|
T | TATGAATG others(1): Show |
4 | a0001c0001t0001g0066a0001c0001t0001g0195a0001c0001t0009g0193others(1): Show | 4 | HG01891.hp1 HG02293.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.897+5473_897+5480d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626383 | ||||||
| chrX:19626383
|
T | TATGAATG others(5): Show |
5 | a0001c0001t0001g0194a0001c0001t0001g0196a0001c0001t0001g0197others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.897+5469_897+5480d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626383 | ||||||
| chrX:19626383
|
TATGA | T | 23 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 23 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(20): Show |
intron_variant | MODIFIER | c.897+5477_897+5480d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626383 | ||||||
| chrX:19626383
|
TATGAATG others(5): Show |
T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.897+5469_897+5480d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626383 | ||||||
| chrX:19626412
|
A | ATGAATGA others(5): Show |
2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.897+5451_897+5452i others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626412 | ||||||
| chrX:19626848
|
C | T | 1 | a0001c0001t0001g0153 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.897+5016G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626848 | ||||||
| chrX:19626943
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.897+4921C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626943 | ||||||
| chrX:19626989
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.897+4875C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626989 | ||||||
| chrX:19626998
|
C | T | 3 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003 | 3 | HG01891.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.897+4866G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19626998 | ||||||
| chrX:19627451
|
T | TG | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.897+4412dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19627451 | ||||||
| chrX:19627639
|
T | C | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.897+4225A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19627639 | ||||||
| chrX:19627818
|
A | C | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(76): Show |
intron_variant | MODIFIER | c.897+4046T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19627818 | ||||||
| chrX:19627834
|
T | C | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(25): Show | 28 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(25): Show |
intron_variant | MODIFIER | c.897+4030A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19627834 | ||||||
| chrX:19627883
|
T | A | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.897+3981A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19627883 | ||||||
| chrX:19628286
|
C | T | 1 | a0001c0001t0001g0092 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.897+3578G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19628286 | ||||||
| chrX:19628454
|
C | T | 1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.897+3410G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19628454 | ||||||
| chrX:19628500
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.897+3364G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19628500 | ||||||
| chrX:19628552
|
G | A | 1 | a0001c0001t0001g0170 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.897+3312C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19628552 | ||||||
| chrX:19629178
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.897+2686T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19629178 | ||||||
| chrX:19629189
|
G | A | 11 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(8): Show | 11 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.897+2675C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19629189 | ||||||
| chrX:19629320
|
G | A | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(34): Show |
intron_variant | MODIFIER | c.897+2544C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19629320 | ||||||
| chrX:19629375
|
T | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 10 | HG00733.hp1 HG02630.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.897+2489A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19629375 | ||||||
| chrX:19629854
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.897+2010G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19629854 | ||||||
| chrX:19630216
|
G | A | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.897+1648C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19630216 | ||||||
| chrX:19630225
|
G | C | 37 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(34): Show | 37 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(34): Show |
intron_variant | MODIFIER | c.897+1639C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19630225 | ||||||
| chrX:19630497
|
AAAC | A | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.897+1364_897+1366d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19630497 | ||||||
| chrX:19631502
|
T | TA | 29 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(26): Show | 29 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.897+361dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19631502 | ||||||
| chrX:19631851
|
A | C | 7 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | HG01243.hp1 HG01975.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.897+13T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 8/17 | chrX | 19631851 | ||||||
| chrX:19632086
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.803-128A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632086 | ||||||
| chrX:19632105
|
A | T | 1 | a0001c0001t0001g0042 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.803-147T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632105 | ||||||
| chrX:19632212
|
G | T | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(24): Show | 27 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.803-254C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632212 | ||||||
| chrX:19632269
|
C | T | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(24): Show | 27 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.803-311G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632269 | ||||||
| chrX:19632293
|
T | C | 44 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(41): Show | 44 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(41): Show |
intron_variant | MODIFIER | c.803-335A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632293 | ||||||
| chrX:19632840
|
C | A | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.803-882G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632840 | ||||||
| chrX:19632965
|
C | T | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.803-1007G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19632965 | ||||||
| chrX:19633004
|
T | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.803-1046A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19633004 | ||||||
| chrX:19633318
|
T | C | 9 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(6): Show | 9 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.803-1360A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19633318 | ||||||
| chrX:19633453
|
C | T | 1 | a0001c0001t0001g0101 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.803-1495G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19633453 | ||||||
| chrX:19633899
|
A | G | 1 | a0001c0001t0002g0003 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.803-1941T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19633899 | ||||||
| chrX:19633920
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.803-1962G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19633920 | ||||||
| chrX:19634029
|
CTGGTG | C | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.803-2076_803-2072d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634029 | ||||||
| chrX:19634030
|
TG | T | 1 | a0001c0001t0001g0025 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.803-2073delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634030 | ||||||
| chrX:19634031
|
G | GGT | 13 | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0044others(10): Show | 13 | HG01106.hp1 HG01981.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.803-2075_803-2074d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
G | GGTGT | 7 | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0033others(4): Show | 7 | HG01070.hp1 HG01346.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.803-2077_803-2074d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
G | GGTGTGT | 4 | a0001c0001t0001g0014a0001c0001t0001g0078a0001c0001t0001g0172others(1): Show | 4 | HG02602.hp1 HG03486.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.803-2079_803-2074d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
G | GGTGTGTG others(1): Show |
2 | a0001c0001t0001g0017a0001c0001t0010g0004 | 2 | HG02055.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.803-2081_803-2074d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
G | GGTGTGTG others(3): Show |
2 | a0001c0001t0001g0175a0001c0003t0004g0180 | 2 | HG02723.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.803-2083_803-2074d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
G | GGTGTGTG others(5): Show |
1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.803-2085_803-2074d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGT | G | 14 | a0001c0001t0001g0021a0001c0001t0001g0034a0001c0001t0001g0035others(11): Show | 14 | HG01069.hp1 HG01243.hp1 HG01496.hp1 others(11): Show |
intron_variant | MODIFIER | c.803-2075_803-2074d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGT | G | 34 | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0040others(31): Show | 34 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.803-2077_803-2074d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGT | G | 28 | a0001c0001t0001g0041a0001c0001t0001g0055a0001c0001t0001g0056others(25): Show | 28 | HG00609.hp1 HG01261.hp1 HG01943.hp1 others(25): Show |
intron_variant | MODIFIER | c.803-2079_803-2074d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(1): Show |
G | 29 | a0001c0001t0001g0036a0001c0001t0001g0073a0001c0001t0001g0074others(26): Show | 29 | HG00642.hp1 HG00673.hp1 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.803-2081_803-2074d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(3): Show |
G | 17 | a0001c0001t0001g0071a0001c0001t0001g0076a0001c0001t0001g0090others(14): Show | 17 | HG00280.hp1 HG01346.hp2 HG01358.hp1 others(14): Show |
intron_variant | MODIFIER | c.803-2083_803-2074d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(5): Show |
G | 5 | a0001c0001t0001g0059a0001c0001t0001g0095a0001c0001t0001g0176others(2): Show | 5 | HG01109.hp1 HG01256.hp1 HG02132.hp1 others(2): Show |
intron_variant | MODIFIER | c.803-2085_803-2074d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(7): Show |
G | 3 | a0001c0001t0001g0111a0001c0001t0001g0150a0001c0010t0001g0199 | 3 | HG01258.hp1 HG01884.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.803-2087_803-2074d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(9): Show |
G | 9 | a0001c0001t0001g0029a0001c0001t0001g0050a0001c0001t0001g0053others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.803-2089_803-2074d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(11): Show |
G | 4 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(1): Show | 4 | HG02818.hp2 HG02922.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.803-2091_803-2074d others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(13): Show |
G | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.803-2093_803-2074d others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(15): Show |
G | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.803-2095_803-2074d others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(27): Show |
G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.803-2107_803-2074d others(36): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634031
|
GGTGTGTG others(29): Show |
G | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.803-2109_803-2074d others(38): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634031 | ||||||
| chrX:19634103
|
GGAAA | G | 35 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(32): Show | 35 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(32): Show |
intron_variant | MODIFIER | c.803-2149_803-2146d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634103 | ||||||
| chrX:19634132
|
G | C | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.803-2174C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634132 | ||||||
| chrX:19634150
|
C | CAG | 1 | a0001c0001t0001g0082 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.803-2194_803-2193d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634150 | ||||||
| chrX:19634150
|
CAG | C | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.803-2194_803-2193d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634150 | ||||||
| chrX:19634297
|
C | A | 1 | a0001c0001t0001g0153 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.803-2339G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634297 | ||||||
| chrX:19634413
|
T | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.803-2455A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634413 | ||||||
| chrX:19634507
|
C | A | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.803-2549G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634507 | ||||||
| chrX:19634543
|
AC | A | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.803-2586delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634543 | ||||||
| chrX:19634885
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.803-2927C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634885 | ||||||
| chrX:19634959
|
G | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.803-3001C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19634959 | ||||||
| chrX:19635072
|
C | T | 3 | a0001c0003t0001g0049a0001c0003t0001g0051a0001c0009t0002g0009 | 3 | HG01070.hp1 HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.803-3114G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19635072 | ||||||
| chrX:19635094
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.803-3136G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19635094 | ||||||
| chrX:19635527
|
T | A | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG01934.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.803-3569A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19635527 | ||||||
| chrX:19635531
|
G | GT | 16 | a0001c0001t0001g0018a0001c0001t0001g0038a0001c0001t0001g0059others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.803-3574dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19635531 | ||||||
| chrX:19635531
|
GT | G | 8 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0144others(5): Show | 8 | HG00639.hp1 HG01928.hp1 HG02027.hp1 others(5): Show |
intron_variant | MODIFIER | c.803-3574delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19635531 | ||||||
| chrX:19636160
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.803-4202C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636160 | ||||||
| chrX:19636162
|
A | G | 55 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(52): Show | 55 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(52): Show |
intron_variant | MODIFIER | c.803-4204T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636162 | ||||||
| chrX:19636333
|
G | GA | 2 | a0001c0001t0001g0082a0001c0001t0001g0160 | 2 | HG02129.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.803-4376dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636333 | ||||||
| chrX:19636812
|
C | CT | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.803-4855dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636812 | ||||||
| chrX:19636869
|
C | G | 56 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(53): Show | 56 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(53): Show |
intron_variant | MODIFIER | c.803-4911G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636869 | ||||||
| chrX:19636888
|
T | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.803-4930A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636888 | ||||||
| chrX:19636933
|
T | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.803-4975A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636933 | ||||||
| chrX:19636994
|
G | C | 76 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(73): Show | 76 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(73): Show |
intron_variant | MODIFIER | c.803-5036C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19636994 | ||||||
| chrX:19637198
|
T | A | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.803-5240A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19637198 | ||||||
| chrX:19637394
|
G | A | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.803-5436C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19637394 | ||||||
| chrX:19637628
|
C | A | 1 | a0001c0001t0001g0063 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.803-5670G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19637628 | ||||||
| chrX:19638060
|
C | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.803-6102G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638060 | ||||||
| chrX:19638088
|
AAAACAAA others(15): Show |
A | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.803-6152_803-6131d others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638088 | ||||||
| chrX:19638092
|
C | CA | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.803-6135dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638092 | ||||||
| chrX:19638098
|
A | C | 2 | a0001c0001t0001g0109a0001c0001t0001g0113 | 2 | HG03492.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.803-6140T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638098 | ||||||
| chrX:19638098
|
AAAAC | A | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.803-6144_803-6141d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638098 | ||||||
| chrX:19638114
|
C | CA | 9 | a0001c0001t0001g0126a0001c0001t0001g0149a0001c0001t0001g0151others(6): Show | 9 | HG02886.hp2 NA18957.hp1 NA18971.hp1 others(6): Show |
intron_variant | MODIFIER | c.803-6157dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638114 | ||||||
| chrX:19638185
|
C | T | 6 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00733.hp1 HG02630.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.803-6227G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638185 | ||||||
| chrX:19638408
|
C | CA | 63 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0018others(60): Show | 63 | HG00639.hp2 HG00733.hp2 HG01069.hp1 others(60): Show |
intron_variant | MODIFIER | c.803-6451dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638408 | ||||||
| chrX:19638408
|
C | CAA | 22 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(19): Show | 22 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.803-6452_803-6451d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638408 | ||||||
| chrX:19638408
|
C | CAAA | 7 | a0001c0001t0001g0050a0001c0002t0002g0187a0001c0002t0002g0188others(4): Show | 7 | HG01884.hp1 HG02559.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.803-6453_803-6451d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638408 | ||||||
| chrX:19638408
|
CA | C | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.803-6451delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638408 | ||||||
| chrX:19638408
|
CAA | C | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.803-6452_803-6451d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638408 | ||||||
| chrX:19638456
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.803-6498C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638456 | ||||||
| chrX:19638473
|
G | C | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.803-6515C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638473 | ||||||
| chrX:19638794
|
A | C | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.802+6606T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638794 | ||||||
| chrX:19638873
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.802+6527A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19638873 | ||||||
| chrX:19639226
|
G | A | 3 | a0001c0003t0001g0049a0001c0003t0001g0051a0001c0009t0002g0009 | 3 | HG01070.hp1 HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.802+6174C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639226 | ||||||
| chrX:19639230
|
A | T | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.802+6170T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639230 | ||||||
| chrX:19639401
|
G | T | 1 | a0001c0001t0001g0025 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.802+5999C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639401 | ||||||
| chrX:19639426
|
C | T | 1 | a0001c0001t0001g0144 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.802+5974G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639426 | ||||||
| chrX:19639550
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.802+5850C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639550 | ||||||
| chrX:19639810
|
G | T | 2 | a0001c0001t0001g0148a0001c0001t0001g0204 | 2 | HG02135.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.802+5590C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639810 | ||||||
| chrX:19639907
|
C | CT | 4 | a0001c0001t0001g0123a0001c0001t0001g0160a0002c0004t0001g0146others(1): Show | 4 | HG04115.hp1 NA18979.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.802+5492dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639907 | ||||||
| chrX:19639907
|
CT | C | 36 | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0050others(33): Show | 36 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.802+5492delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639907 | ||||||
| chrX:19639907
|
CTT | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.802+5491_802+5492d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639907 | ||||||
| chrX:19639960
|
G | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.802+5440C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639960 | ||||||
| chrX:19639993
|
C | G | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.802+5407G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19639993 | ||||||
| chrX:19640077
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.802+5323C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19640077 | ||||||
| chrX:19640190
|
A | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.802+5210T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19640190 | ||||||
| chrX:19640462
|
C | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.802+4938G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19640462 | ||||||
| chrX:19640488
|
C | CT | 2 | a0001c0001t0001g0124a0001c0001t0001g0132 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.802+4911dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19640488 | ||||||
| chrX:19640488
|
CT | C | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.802+4911delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19640488 | ||||||
| chrX:19641089
|
CTTTG | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.802+4307_802+4310d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19641089 | ||||||
| chrX:19641306
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.802+4094T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19641306 | ||||||
| chrX:19641406
|
G | T | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.802+3994C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19641406 | ||||||
| chrX:19641879
|
A | T | 1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.802+3521T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19641879 | ||||||
| chrX:19641907
|
G | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.802+3493C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19641907 | ||||||
| chrX:19642084
|
C | T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.802+3316G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642084 | ||||||
| chrX:19642133
|
G | A | 1 | a0001c0001t0001g0026 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.802+3267C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642133 | ||||||
| chrX:19642159
|
A | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.802+3241T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642159 | ||||||
| chrX:19642161
|
CTG | C | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.802+3237_802+3238d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642161 | ||||||
| chrX:19642441
|
T | G | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.802+2959A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642441 | ||||||
| chrX:19642800
|
A | T | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.802+2600T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642800 | ||||||
| chrX:19642834
|
G | A | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.802+2566C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642834 | ||||||
| chrX:19642905
|
T | A | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.802+2495A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19642905 | ||||||
| chrX:19643150
|
C | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.802+2250G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643150 | ||||||
| chrX:19643219
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.802+2181T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643219 | ||||||
| chrX:19643221
|
A | G | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.802+2179T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643221 | ||||||
| chrX:19643245
|
C | T | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.802+2155G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643245 | ||||||
| chrX:19643248
|
C | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.802+2152G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643248 | ||||||
| chrX:19643300
|
A | AT | 3 | a0001c0001t0001g0046a0001c0003t0002g0039a0001c0003t0013g0068 | 3 | HG02486.hp1 HG02897.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.802+2099dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATT | 16 | a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG00639.hp2 HG01515.hp1 HG01975.hp1 others(13): Show |
intron_variant | MODIFIER | c.802+2098_802+2099d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATTT | 18 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0031others(15): Show | 18 | HG01070.hp1 HG01167.hp1 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.802+2097_802+2099d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATTTT | 12 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(9): Show | 12 | HG01106.hp1 HG01123.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.802+2096_802+2099d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATTTTT | 4 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0190others(1): Show | 4 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.802+2095_802+2099d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATTTTTT | 1 | a0001c0001t0001g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.802+2094_802+2099d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
A | ATTTTTTT others(1): Show |
1 | a0001c0001t0001g0044 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.802+2099_802+2100i others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
ATTTTTTA others(8): Show |
A | 3 | a0001c0001t0001g0008a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG02622.hp2 HG02647.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.802+2085_802+2099d others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643300
|
ATTTTTTA others(16): Show |
A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.802+2077_802+2099d others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643300 | ||||||
| chrX:19643303
|
TTTTA | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.802+2093_802+2096d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643303 | ||||||
| chrX:19643304
|
TTTATTTT others(11): Show |
T | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.802+2078_802+2095d others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643304 | ||||||
| chrX:19643305
|
TTATTTTT others(10): Show |
T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.802+2078_802+2094d others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643305 | ||||||
| chrX:19643306
|
TA | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.802+2093delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643306 | ||||||
| chrX:19643306
|
TATTTTTT others(9): Show |
T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.802+2078_802+2093d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643306 | ||||||
| chrX:19643307
|
A | T | 58 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(55): Show | 58 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(55): Show |
intron_variant | MODIFIER | c.802+2093T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643307 | ||||||
| chrX:19643317
|
T | A | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.802+2083A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643317 | ||||||
| chrX:19643321
|
T | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.802+2079A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643321 | ||||||
| chrX:19643322
|
A | AT | 2 | a0001c0001t0001g0094a0001c0001t0001g0142 | 2 | HG02074.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.802+2077dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643322 | ||||||
| chrX:19643322
|
A | T | 64 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0015others(61): Show | 64 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(61): Show |
intron_variant | MODIFIER | c.802+2078T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643322 | ||||||
| chrX:19643496
|
C | G | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.802+1904G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19643496 | ||||||
| chrX:19644164
|
C | G | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.802+1236G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644164 | ||||||
| chrX:19644174
|
A | G | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.802+1226T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644174 | ||||||
| chrX:19644176
|
T | C | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.802+1224A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644176 | ||||||
| chrX:19644540
|
A | C | 10 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
intron_variant | MODIFIER | c.802+860T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644540 | ||||||
| chrX:19644636
|
T | C | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.802+764A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644636 | ||||||
| chrX:19644713
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.802+687G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644713 | ||||||
| chrX:19644803
|
A | G | 26 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(23): Show | 26 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.802+597T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644803 | ||||||
| chrX:19644830
|
CATG | C | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.802+567_802+569del others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644830 | ||||||
| chrX:19644944
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.802+456A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644944 | ||||||
| chrX:19644949
|
A | T | 31 | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0052others(28): Show | 31 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.802+451T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19644949 | ||||||
| chrX:19645046
|
C | A | 1 | a0001c0001t0001g0084 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.802+354G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | 19645046 | ||||||
| chrX:19645990
|
T | C | 63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(60): Show | 63 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(60): Show |
intron_variant | MODIFIER | c.727-515A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19645990 | ||||||
| chrX:19646174
|
A | G | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.727-699T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646174 | ||||||
| chrX:19646226
|
T | C | 62 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(59): Show | 62 | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(59): Show |
intron_variant | MODIFIER | c.727-751A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646226 | ||||||
| chrX:19646353
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.727-878A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646353 | ||||||
| chrX:19646403
|
C | T | 34 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(31): Show | 34 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.727-928G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646403 | ||||||
| chrX:19646488
|
G | A | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02559.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.727-1013C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646488 | ||||||
| chrX:19646762
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.727-1287T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646762 | ||||||
| chrX:19646859
|
T | TA | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.727-1385dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646859 | ||||||
| chrX:19646900
|
C | T | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02559.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.727-1425G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646900 | ||||||
| chrX:19646919
|
T | C | 1 | a0001c0002t0002g0188 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.727-1444A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19646919 | ||||||
| chrX:19647276
|
G | GA | 2 | a0001c0001t0001g0084a0001c0001t0001g0182 | 2 | HG00280.hp1 HG00609.hp1 |
intron_variant | MODIFIER | c.727-1802dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19647276 | ||||||
| chrX:19647384
|
G | A | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(200): Show |
intron_variant | MODIFIER | c.727-1909C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19647384 | ||||||
| chrX:19647592
|
A | C | 16 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0161others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.727-2117T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19647592 | ||||||
| chrX:19647845
|
T | C | 5 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(2): Show | 5 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.727-2370A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19647845 | ||||||
| chrX:19648090
|
T | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.727-2615A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648090 | ||||||
| chrX:19648135
|
T | C | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.727-2660A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648135 | ||||||
| chrX:19648349
|
G | GGGAA | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.727-2878_727-2875d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648349 | ||||||
| chrX:19648349
|
GGGAA | G | 2 | a0001c0001t0001g0012a0001c0001t0010g0004 | 2 | HG01074.hp1 HG02055.hp1 |
intron_variant | MODIFIER | c.727-2878_727-2875d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648349 | ||||||
| chrX:19648371
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.727-2896C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648371 | ||||||
| chrX:19648442
|
AGGAGGGA others(5): Show |
A | 2 | a0001c0001t0001g0008a0001c0001t0001g0066 | 2 | HG02293.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.727-2979_727-2968d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648442 | ||||||
| chrX:19648743
|
T | TC | 1 | a0001c0001t0001g0090 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.727-3269dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648743 | ||||||
| chrX:19648871
|
G | A | 27 | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0052others(24): Show | 27 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.727-3396C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648871 | ||||||
| chrX:19648969
|
G | A | 1 | a0001c0001t0007g0127 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.727-3494C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19648969 | ||||||
| chrX:19649004
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.727-3529T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649004 | ||||||
| chrX:19649159
|
A | C | 1 | a0001c0001t0001g0121 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.727-3684T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649159 | ||||||
| chrX:19649222
|
T | C | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.727-3747A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649222 | ||||||
| chrX:19649281
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.727-3806A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649281 | ||||||
| chrX:19649724
|
G | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.727-4249C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649724 | ||||||
| chrX:19649753
|
A | G | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.727-4278T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649753 | ||||||
| chrX:19649771
|
G | C | 19 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(16): Show | 19 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(16): Show |
intron_variant | MODIFIER | c.727-4296C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19649771 | ||||||
| chrX:19650302
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.727-4827A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650302 | ||||||
| chrX:19650542
|
TG | T | 29 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(26): Show | 29 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.727-5068delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650542 | ||||||
| chrX:19650701
|
G | A | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.727-5226C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650701 | ||||||
| chrX:19650803
|
C | G | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.727-5328G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650803 | ||||||
| chrX:19650889
|
C | T | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.727-5414G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650889 | ||||||
| chrX:19650932
|
A | C | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.727-5457T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19650932 | ||||||
| chrX:19651163
|
T | C | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.727-5688A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651163 | ||||||
| chrX:19651271
|
C | T | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.727-5796G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651271 | ||||||
| chrX:19651574
|
G | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.727-6099C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651574 | ||||||
| chrX:19651830
|
A | ACAGT | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.727-6359_727-6356d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651830 | ||||||
| chrX:19651853
|
GTCAA | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.727-6382_727-6379d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651853 | ||||||
| chrX:19651857
|
A | G | 3 | a0001c0001t0001g0053a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01070.hp1 HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.727-6382T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19651857 | ||||||
| chrX:19652005
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.727-6530A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19652005 | ||||||
| chrX:19652988
|
T | G | 26 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(23): Show | 26 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.727-7513A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19652988 | ||||||
| chrX:19652993
|
T | G | 34 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(31): Show | 34 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(31): Show |
intron_variant | MODIFIER | c.727-7518A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19652993 | ||||||
| chrX:19653329
|
C | T | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.727-7854G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653329 | ||||||
| chrX:19653636
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.727-8161C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653636 | ||||||
| chrX:19653763
|
T | TAC | 7 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0074others(4): Show | 7 | HG01099.hp1 HG02071.hp1 HG02083.hp1 others(4): Show |
intron_variant | MODIFIER | c.727-8290_727-8289d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TAC | T | 86 | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0020others(83): Show | 86 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(83): Show |
intron_variant | MODIFIER | c.727-8290_727-8289d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACAC | T | 17 | a0001c0001t0001g0014a0001c0001t0001g0070a0001c0001t0001g0079others(14): Show | 17 | HG00621.hp1 HG01070.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.727-8292_727-8289d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACAC | T | 5 | a0001c0001t0001g0067a0001c0001t0001g0092a0001c0001t0001g0101others(2): Show | 5 | HG00738.hp1 NA18948.hp1 NA18961.hp1 others(2): Show |
intron_variant | MODIFIER | c.727-8294_727-8289d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(1): Show |
T | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.727-8296_727-8289d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(3): Show |
T | 1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.727-8298_727-8289d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(5): Show |
T | 6 | a0001c0001t0001g0050a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02559.hp2 HG02630.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.727-8300_727-8289d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(7): Show |
T | 11 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0052others(8): Show | 11 | HG01070.hp1 HG01106.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.727-8302_727-8289d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(9): Show |
T | 14 | a0001c0001t0001g0015a0001c0001t0001g0036a0001c0002t0001g0179others(11): Show | 14 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.727-8304_727-8289d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(11): Show |
T | 28 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0022others(25): Show | 28 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.727-8306_727-8289d others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653763
|
TACACACA others(13): Show |
T | 6 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.727-8308_727-8289d others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653763 | ||||||
| chrX:19653940
|
T | C | 1 | a0001c0001t0001g0055 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.727-8465A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19653940 | ||||||
| chrX:19654477
|
A | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.727-9002T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19654477 | ||||||
| chrX:19654873
|
T | C | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.727-9398A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19654873 | ||||||
| chrX:19654957
|
G | T | 1 | a0001c0001t0003g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.727-9482C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19654957 | ||||||
| chrX:19655122
|
T | C | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.727-9647A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655122 | ||||||
| chrX:19655217
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.727-9742A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655217 | ||||||
| chrX:19655237
|
C | CTCAT | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.727-9766_727-9763d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655237 | ||||||
| chrX:19655237
|
CTCAT | C | 18 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0138others(15): Show | 18 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.727-9766_727-9763d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655237 | ||||||
| chrX:19655237
|
CTCATTCA others(1): Show |
C | 2 | a0001c0001t0001g0007a0001c0001t0001g0196 | 2 | HG00733.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.727-9770_727-9763d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655237 | ||||||
| chrX:19655743
|
C | T | 7 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(4): Show | 7 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.727-10268G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655743 | ||||||
| chrX:19655895
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.727-10420C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19655895 | ||||||
| chrX:19656021
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.727-10546A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656021 | ||||||
| chrX:19656153
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0090 | 2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.727-10678A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656153 | ||||||
| chrX:19656529
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.727-11054A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656529 | ||||||
| chrX:19656765
|
T | G | 1 | a0001c0001t0001g0133 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.727-11290A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656765 | ||||||
| chrX:19656766
|
C | A | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.727-11291G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656766 | ||||||
| chrX:19656771
|
T | G | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.727-11296A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656771 | ||||||
| chrX:19656832
|
A | T | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.727-11357T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656832 | ||||||
| chrX:19656987
|
A | G | 1 | a0001c0001t0001g0144 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.727-11512T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19656987 | ||||||
| chrX:19657162
|
A | G | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.727-11687T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657162 | ||||||
| chrX:19657380
|
G | GA | 12 | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0071others(9): Show | 12 | HG01346.hp2 HG02027.hp1 HG02056.hp1 others(9): Show |
intron_variant | MODIFIER | c.727-11906dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657380 | ||||||
| chrX:19657380
|
GA | G | 59 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(56): Show | 59 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(56): Show |
intron_variant | MODIFIER | c.727-11906delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657380 | ||||||
| chrX:19657496
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.727-12021C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657496 | ||||||
| chrX:19657526
|
A | G | 1 | a0001c0001t0001g0170 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.727-12051T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657526 | ||||||
| chrX:19657621
|
G | A | 25 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(22): Show | 25 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.727-12146C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657621 | ||||||
| chrX:19657727
|
A | AAAT | 1 | a0001c0001t0001g0056 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.727-12255_727-1225 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657727 | ||||||
| chrX:19657727
|
AAAT | A | 2 | a0001c0003t0004g0180a0001c0003t0013g0068 | 2 | HG03486.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.727-12255_727-1225 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657727 | ||||||
| chrX:19657958
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.727-12483C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657958 | ||||||
| chrX:19657980
|
G | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG00733.hp1 HG01106.hp1 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.727-12505C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19657980 | ||||||
| chrX:19658126
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.727-12651G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19658126 | ||||||
| chrX:19658142
|
A | G | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.727-12667T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19658142 | ||||||
| chrX:19658475
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.727-13000A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19658475 | ||||||
| chrX:19658720
|
G | A | 1 | a0001c0001t0001g0153 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.727-13245C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19658720 | ||||||
| chrX:19659011
|
G | A | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.727-13536C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659011 | ||||||
| chrX:19659109
|
A | AT | 5 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0192others(2): Show | 5 | HG01884.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.727-13635dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659109 | ||||||
| chrX:19659109
|
A | ATT | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.727-13636_727-1363 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659109 | ||||||
| chrX:19659109
|
AT | A | 119 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(116): Show | 119 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(116): Show |
intron_variant | MODIFIER | c.727-13635delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659109 | ||||||
| chrX:19659109
|
ATT | A | 2 | a0001c0001t0001g0031a0001c0001t0001g0185 | 2 | HG00621.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.727-13636_727-1363 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659109 | ||||||
| chrX:19659271
|
C | T | 1 | a0001c0001t0001g0063 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.727-13796G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659271 | ||||||
| chrX:19659313
|
C | T | 1 | a0001c0001t0002g0003 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.727-13838G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659313 | ||||||
| chrX:19659336
|
A | G | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.727-13861T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659336 | ||||||
| chrX:19659435
|
A | AT | 44 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(41): Show | 44 | HG00639.hp2 HG01070.hp1 HG01123.hp1 others(41): Show |
intron_variant | MODIFIER | c.727-13961dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659435 | ||||||
| chrX:19659508
|
C | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.727-14033G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659508 | ||||||
| chrX:19659653
|
A | G | 31 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(28): Show | 31 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.727-14178T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659653 | ||||||
| chrX:19659856
|
C | T | 75 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.727-14381G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19659856 | ||||||
| chrX:19660076
|
T | C | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.727-14601A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660076 | ||||||
| chrX:19660186
|
T | C | 5 | a0001c0001t0001g0098a0001c0001t0001g0119a0001c0001t0001g0125others(2): Show | 5 | NA18945.hp1 NA18952.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.727-14711A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660186 | ||||||
| chrX:19660216
|
A | C | 7 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(4): Show | 7 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.727-14741T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660216 | ||||||
| chrX:19660216
|
A | G | 1 | a0001c0001t0001g0184 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.727-14741T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660216 | ||||||
| chrX:19660540
|
A | G | 89 | a0001c0001t0001g0012a0001c0001t0001g0031a0001c0001t0001g0063others(86): Show | 89 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.727-15065T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660540 | ||||||
| chrX:19660885
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.727-15410C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19660885 | ||||||
| chrX:19661400
|
G | A | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.727-15925C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661400 | ||||||
| chrX:19661542
|
T | C | 7 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(4): Show | 7 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.727-16067A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661542 | ||||||
| chrX:19661552
|
C | CT | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.727-16078dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661552 | ||||||
| chrX:19661552
|
C | CTT | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.727-16079_727-1607 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661552 | ||||||
| chrX:19661552
|
CT | C | 5 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0120others(2): Show | 5 | HG02132.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.727-16078delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661552 | ||||||
| chrX:19661626
|
TG | T | 1 | a0001c0001t0001g0105 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.727-16152delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661626 | ||||||
| chrX:19661627
|
G | GT | 9 | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0096others(6): Show | 9 | HG00639.hp2 HG02698.hp1 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.727-16153dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661627 | ||||||
| chrX:19661627
|
G | T | 1 | a0001c0001t0001g0184 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.727-16152C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661627 | ||||||
| chrX:19661627
|
GT | G | 2 | a0001c0001t0001g0099a0001c0001t0001g0107 | 2 | HG01975.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.727-16153delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661627 | ||||||
| chrX:19661783
|
C | T | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.727-16308G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661783 | ||||||
| chrX:19661866
|
A | G | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.727-16391T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19661866 | ||||||
| chrX:19662249
|
G | A | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.727-16774C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662249 | ||||||
| chrX:19662376
|
A | G | 1 | a0001c0001t0001g0182 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.727-16901T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662376 | ||||||
| chrX:19662411
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.727-16936G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662411 | ||||||
| chrX:19662662
|
T | G | 42 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(39): Show | 42 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(39): Show |
intron_variant | MODIFIER | c.727-17187A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662662 | ||||||
| chrX:19662720
|
A | G | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.727-17245T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662720 | ||||||
| chrX:19662723
|
G | C | 1 | a0001c0001t0001g0069 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.727-17248C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662723 | ||||||
| chrX:19662819
|
CT | C | 1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.727-17345delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19662819 | ||||||
| chrX:19663116
|
AT | A | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.727-17642delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19663116 | ||||||
| chrX:19663778
|
T | C | 26 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(23): Show | 26 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.727-18303A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19663778 | ||||||
| chrX:19663928
|
A | G | 1 | a0001c0001t0001g0134 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.727-18453T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19663928 | ||||||
| chrX:19664091
|
C | T | 4 | a0001c0001t0001g0081a0001c0001t0001g0113a0001c0001t0001g0124others(1): Show | 4 | NA18967.hp1 NA18977.hp1 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.727-18616G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19664091 | ||||||
| chrX:19664189
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.727-18714G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19664189 | ||||||
| chrX:19664292
|
T | A | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.727-18817A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19664292 | ||||||
| chrX:19664605
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.727-19130C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19664605 | ||||||
| chrX:19664854
|
A | T | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.726+18969T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19664854 | ||||||
| chrX:19665252
|
G | T | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.726+18571C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19665252 | ||||||
| chrX:19665415
|
G | A | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.726+18408C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19665415 | ||||||
| chrX:19665550
|
T | C | 2 | a0001c0001t0001g0087a0001c0001t0001g0136 | 2 | HG03831.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.726+18273A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19665550 | ||||||
| chrX:19665876
|
A | G | 7 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(4): Show | 7 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.726+17947T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19665876 | ||||||
| chrX:19666047
|
T | TA | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.726+17775dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666047 | ||||||
| chrX:19666070
|
TC | T | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.726+17752delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666070 | ||||||
| chrX:19666124
|
T | TA | 165 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0012others(162): Show | 165 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(162): Show |
intron_variant | MODIFIER | c.726+17698dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666124 | ||||||
| chrX:19666124
|
T | TAA | 14 | a0001c0001t0001g0033a0001c0001t0001g0059a0001c0001t0001g0087others(11): Show | 14 | HG01109.hp1 HG02074.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+17697_726+1769 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666124 | ||||||
| chrX:19666228
|
G | A | 29 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(26): Show | 29 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.726+17595C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666228 | ||||||
| chrX:19666249
|
C | T | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+17574G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666249 | ||||||
| chrX:19666289
|
C | A | 1 | a0001c0002t0002g0187 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.726+17534G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666289 | ||||||
| chrX:19666292
|
CT | C | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.726+17530delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666292 | ||||||
| chrX:19666740
|
A | AG | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.726+17082dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666740 | ||||||
| chrX:19666845
|
G | A | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.726+16978C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19666845 | ||||||
| chrX:19667666
|
A | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.726+16157T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667666 | ||||||
| chrX:19667777
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.726+16046A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667777 | ||||||
| chrX:19667812
|
A | AT | 33 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0034others(30): Show | 33 | HG01109.hp1 HG01123.hp2 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.726+16010dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
A | ATT | 8 | a0001c0001t0001g0018a0001c0001t0001g0156a0001c0001t0001g0171others(5): Show | 8 | HG01496.hp1 HG01891.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.726+16009_726+1601 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
A | ATTT | 4 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(1): Show | 4 | HG01070.hp2 HG01071.hp2 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.726+16008_726+1601 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
A | ATTTT | 3 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0009g0193 | 3 | HG01884.hp2 HG01891.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.726+16007_726+1601 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
AT | A | 50 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(47): Show | 50 | HG00639.hp2 HG01070.hp1 HG01123.hp1 others(47): Show |
intron_variant | MODIFIER | c.726+16010delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
ATT | A | 6 | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0055others(3): Show | 6 | HG01975.hp1 HG02809.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.726+16009_726+1601 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
ATTT | A | 5 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0052others(2): Show | 5 | HG00733.hp1 HG01106.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.726+16008_726+1601 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
ATTTT | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.726+16007_726+1601 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667812
|
ATTTTT | A | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.726+16006_726+1601 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667812 | ||||||
| chrX:19667846
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.726+15977A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667846 | ||||||
| chrX:19667865
|
A | T | 1 | a0001c0001t0001g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.726+15958T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667865 | ||||||
| chrX:19667879
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+15944G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19667879 | ||||||
| chrX:19668288
|
A | G | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.726+15535T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668288 | ||||||
| chrX:19668352
|
C | T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.726+15471G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668352 | ||||||
| chrX:19668765
|
G | A | 25 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(22): Show | 25 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.726+15058C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668765 | ||||||
| chrX:19668853
|
C | CA | 20 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(17): Show | 20 | HG00642.hp1 HG00733.hp1 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.726+14969dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668853 | ||||||
| chrX:19668853
|
C | CAA | 26 | a0001c0001t0001g0018a0001c0001t0001g0052a0001c0001t0001g0059others(23): Show | 26 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.726+14968_726+1496 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668853 | ||||||
| chrX:19668853
|
C | CAAA | 2 | a0001c0001t0001g0200a0001c0001t0003g0057 | 2 | HG02647.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.726+14967_726+1496 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668853 | ||||||
| chrX:19668853
|
CA | C | 3 | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0130 | 3 | HG01433.hp1 HG02809.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.726+14969delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668853 | ||||||
| chrX:19668935
|
A | AAT | 8 | a0001c0001t0001g0031a0001c0001t0001g0085a0001c0001t0001g0111others(5): Show | 8 | HG01167.hp1 HG01258.hp1 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.726+14886_726+1488 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATAT | 4 | a0001c0001t0001g0063a0001c0001t0001g0094a0001c0001t0001g0102others(1): Show | 4 | HG01934.hp1 HG02083.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+14884_726+1488 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATAT | 4 | a0001c0001t0001g0084a0001c0001t0001g0090a0001c0001t0001g0110others(1): Show | 4 | HG00609.hp1 HG03516.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+14882_726+1488 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(1): Show |
1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.726+14880_726+1488 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(3): Show |
4 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0123others(1): Show | 4 | HG01346.hp2 HG02015.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+14878_726+1488 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(5): Show |
2 | a0001c0001t0001g0114a0001c0001t0001g0130 | 2 | HG01433.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.726+14876_726+1488 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(7): Show |
3 | a0001c0001t0001g0096a0001c0001t0001g0115a0001c0001t0001g0118 | 3 | HG03490.hp1 NA18953.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.726+14874_726+1488 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(9): Show |
1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.726+14872_726+1488 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
A | AATATATA others(15): Show |
1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.726+14866_726+1488 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AAT | A | 51 | a0001c0001t0001g0017a0001c0001t0001g0060a0001c0001t0001g0061others(48): Show | 51 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.726+14886_726+1488 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATAT | A | 6 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(3): Show | 6 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(3): Show |
intron_variant | MODIFIER | c.726+14884_726+1488 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATAT | A | 9 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(6): Show | 9 | HG02145.hp1 HG02258.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.726+14882_726+1488 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATATA others(3): Show |
A | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.726+14878_726+1488 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATATA others(5): Show |
A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.726+14876_726+1488 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATATA others(7): Show |
A | 35 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(32): Show | 35 | HG00639.hp2 HG01243.hp1 HG01346.hp1 others(32): Show |
intron_variant | MODIFIER | c.726+14874_726+1488 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATATA others(9): Show |
A | 2 | a0001c0001t0001g0007a0001c0001t0001g0172 | 2 | HG00733.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.726+14872_726+1488 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668935
|
AATATATA others(11): Show |
A | 38 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(35): Show | 38 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.726+14870_726+1488 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668935 | ||||||
| chrX:19668959
|
TATATATA others(6): Show |
T | 2 | a0001c0001t0001g0028a0001c0001t0008g0023 | 2 | HG01123.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.726+14851_726+1486 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668959 | ||||||
| chrX:19668968
|
A | T | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.726+14855T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668968 | ||||||
| chrX:19668970
|
A | T | 16 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(13): Show | 16 | HG02258.hp1 HG02451.hp2 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.726+14853T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668970 | ||||||
| chrX:19668972
|
A | T | 50 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(47): Show | 50 | HG00639.hp2 HG01123.hp2 HG01243.hp1 others(47): Show |
intron_variant | MODIFIER | c.726+14851T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668972 | ||||||
| chrX:19668974
|
A | ATATATT | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.726+14848_726+1484 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668974 | ||||||
| chrX:19668974
|
A | ATT | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.726+14847_726+1484 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668974 | ||||||
| chrX:19668974
|
A | T | 55 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(52): Show | 55 | HG00639.hp2 HG00673.hp1 HG01123.hp1 others(52): Show |
intron_variant | MODIFIER | c.726+14849T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668974 | ||||||
| chrX:19668975
|
T | TATATA | 1 | a0001c0001t0001g0078 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.726+14847_726+1484 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668975 | ||||||
| chrX:19668996
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.726+14827A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19668996 | ||||||
| chrX:19669306
|
G | GAAT | 7 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 7 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.726+14514_726+1451 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669306 | ||||||
| chrX:19669319
|
A | AATT | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.726+14503_726+1450 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669319 | ||||||
| chrX:19669322
|
A | AATT | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.726+14500_726+1450 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669322 | ||||||
| chrX:19669322
|
A | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.726+14501T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669322 | ||||||
| chrX:19669325
|
A | AATAATAA others(5): Show |
2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.726+14497_726+1449 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | AATAATAA others(5): Show |
8 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(5): Show | 8 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.726+14497_726+1449 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | AATAATT | 10 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0002t0001g0179others(7): Show | 10 | HG01496.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.726+14497_726+1449 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | AATAATTA others(5): Show |
2 | a0001c0001t0001g0195a0001c0001t0001g0200 | 2 | HG01891.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.726+14497_726+1449 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | AATT | 3 | a0001c0001t0001g0086a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01070.hp1 HG01981.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.726+14495_726+1449 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | AATTATT | 5 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(2): Show | 5 | HG01106.hp1 HG02486.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.726+14492_726+1449 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669325
|
A | T | 7 | a0001c0001t0001g0031a0001c0001t0001g0050a0001c0001t0001g0053others(4): Show | 7 | HG01167.hp1 HG01891.hp2 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.726+14498T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669325 | ||||||
| chrX:19669328
|
T | A | 40 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0024others(37): Show | 40 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(37): Show |
intron_variant | MODIFIER | c.726+14495A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669328 | ||||||
| chrX:19669331
|
T | A | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.726+14492A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669331 | ||||||
| chrX:19669476
|
C | G | 1 | a0001c0001t0001g0135 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.726+14347G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669476 | ||||||
| chrX:19669562
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.726+14261C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669562 | ||||||
| chrX:19669599
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.726+14224G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669599 | ||||||
| chrX:19669757
|
C | T | 1 | a0001c0001t0001g0152 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.726+14066G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669757 | ||||||
| chrX:19669890
|
A | AT | 46 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(43): Show | 46 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.726+13932dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669890 | ||||||
| chrX:19669890
|
AT | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+13932delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19669890 | ||||||
| chrX:19670386
|
T | C | 1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.726+13437A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670386 | ||||||
| chrX:19670551
|
A | T | 1 | a0001c0001t0001g0088 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.726+13272T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670551 | ||||||
| chrX:19670625
|
C | T | 2 | a0001c0001t0001g0094a0001c0001t0001g0144 | 2 | HG00639.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.726+13198G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670625 | ||||||
| chrX:19670683
|
G | A | 7 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 7 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.726+13140C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670683 | ||||||
| chrX:19670722
|
C | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.726+13101G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670722 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(5): Show |
39 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0018others(36): Show | 39 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.726+12972_726+1298 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(6): Show |
9 | a0001c0001t0001g0006a0001c0001t0001g0028a0001c0001t0001g0043others(6): Show | 9 | HG01192.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.726+12971_726+1298 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(7): Show |
24 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(21): Show | 24 | HG02451.hp2 HG02559.hp1 HG02559.hp2 others(21): Show |
intron_variant | MODIFIER | c.726+12970_726+1298 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(8): Show |
5 | a0001c0001t0001g0050a0001c0003t0001g0051a0001c0003t0002g0039others(2): Show | 5 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.726+12969_726+1298 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(9): Show |
1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.726+12983_726+1298 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19670839
|
C | CAAAAAAA others(10): Show |
1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.726+12983_726+1298 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19670839 | ||||||
| chrX:19671147
|
C | A | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.726+12676G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671147 | ||||||
| chrX:19671371
|
A | AAC | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.726+12450_726+1245 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
A | AACACAC | 15 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(12): Show | 15 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.726+12446_726+1245 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
A | AACACACA others(1): Show |
19 | a0001c0001t0001g0007a0001c0001t0001g0050a0001c0001t0001g0052others(16): Show | 19 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(16): Show |
intron_variant | MODIFIER | c.726+12444_726+1245 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
A | AACACACA others(3): Show |
10 | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0165others(7): Show | 10 | HG01884.hp1 HG01975.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.726+12442_726+1245 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
A | AACACACA others(5): Show |
27 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(24): Show | 27 | HG00639.hp2 HG01167.hp1 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.726+12440_726+1245 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
A | AACACACA others(7): Show |
6 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0043others(3): Show | 6 | HG01123.hp1 HG01192.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.726+12438_726+1245 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671371
|
AAC | A | 1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.726+12450_726+1245 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671371 | ||||||
| chrX:19671494
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.726+12329C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671494 | ||||||
| chrX:19671886
|
T | C | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.726+11937A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19671886 | ||||||
| chrX:19672001
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.726+11822G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672001 | ||||||
| chrX:19672098
|
G | A | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.726+11725C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672098 | ||||||
| chrX:19672278
|
A | C | 15 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.726+11545T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672278 | ||||||
| chrX:19672430
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+11393G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672430 | ||||||
| chrX:19672467
|
C | T | 3 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038 | 3 | HG01243.hp1 HG02622.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.726+11356G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672467 | ||||||
| chrX:19672549
|
C | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.726+11274G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672549 | ||||||
| chrX:19672602
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.726+11221T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19672602 | ||||||
| chrX:19673065
|
C | CA | 12 | a0001c0001t0001g0005a0001c0001t0001g0060a0001c0001t0001g0061others(9): Show | 12 | HG00609.hp1 HG00733.hp2 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.726+10757dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673065 | ||||||
| chrX:19673065
|
CA | C | 73 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(70): Show | 73 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(70): Show |
intron_variant | MODIFIER | c.726+10757delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673065 | ||||||
| chrX:19673082
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.726+10741T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673082 | ||||||
| chrX:19673218
|
TA | T | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.726+10604delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673218 | ||||||
| chrX:19673473
|
T | C | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.726+10350A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673473 | ||||||
| chrX:19673589
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.726+10234C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19673589 | ||||||
| chrX:19674545
|
T | G | 33 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(30): Show | 33 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(30): Show |
intron_variant | MODIFIER | c.726+9278A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19674545 | ||||||
| chrX:19675078
|
C | CAAAT | 17 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0087others(14): Show | 17 | HG01070.hp1 HG02015.hp1 HG02056.hp1 others(14): Show |
intron_variant | MODIFIER | c.726+8741_726+8744d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675078 | ||||||
| chrX:19675078
|
C | CAAATAAA others(1): Show |
13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0167others(10): Show | 13 | HG01109.hp1 HG01496.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.726+8737_726+8744d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675078 | ||||||
| chrX:19675078
|
C | CAAATAAA others(5): Show |
5 | a0001c0001t0001g0194a0001c0001t0001g0197a0001c0001t0001g0198others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.726+8733_726+8744d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675078 | ||||||
| chrX:19675078
|
C | CAAATAAA others(9): Show |
1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.726+8729_726+8744d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675078 | ||||||
| chrX:19675409
|
C | CT | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.726+8413dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675409 | ||||||
| chrX:19675409
|
CT | C | 3 | a0001c0001t0001g0060a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01069.hp1 HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.726+8413delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675409 | ||||||
| chrX:19675425
|
T | TC | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.726+8397dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675425 | ||||||
| chrX:19675527
|
T | C | 75 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.726+8296A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19675527 | ||||||
| chrX:19676057
|
G | T | 1 | a0001c0001t0001g0090 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.726+7766C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676057 | ||||||
| chrX:19676356
|
G | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+7467C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676356 | ||||||
| chrX:19676404
|
A | G | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.726+7419T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676404 | ||||||
| chrX:19676581
|
G | A | 1 | a0001c0001t0001g0148 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.726+7242C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676581 | ||||||
| chrX:19676642
|
C | CA | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.726+7180dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676642 | ||||||
| chrX:19676789
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.726+7034G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676789 | ||||||
| chrX:19676898
|
G | A | 1 | a0001c0001t0001g0152 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.726+6925C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19676898 | ||||||
| chrX:19677709
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.726+6114A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19677709 | ||||||
| chrX:19678115
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+5708A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678115 | ||||||
| chrX:19678163
|
G | A | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.726+5660C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678163 | ||||||
| chrX:19678181
|
A | G | 13 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0035others(10): Show | 13 | HG01243.hp1 HG01975.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.726+5642T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678181 | ||||||
| chrX:19678240
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+5583G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678240 | ||||||
| chrX:19678349
|
G | GT | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.726+5473dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678349 | ||||||
| chrX:19678349
|
GT | G | 22 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(19): Show | 22 | HG00642.hp1 HG01167.hp1 HG01261.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+5473delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678349 | ||||||
| chrX:19678349
|
GTT | G | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.726+5472_726+5473d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678349 | ||||||
| chrX:19678356
|
T | C | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.726+5467A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678356 | ||||||
| chrX:19678465
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+5358A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678465 | ||||||
| chrX:19678835
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+4988G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19678835 | ||||||
| chrX:19679405
|
T | TA | 4 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0182others(1): Show | 4 | HG00280.hp1 HG01496.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.726+4417dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19679405 | ||||||
| chrX:19679904
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.726+3919T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19679904 | ||||||
| chrX:19679968
|
A | G | 29 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(26): Show | 29 | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.726+3855T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19679968 | ||||||
| chrX:19680118
|
T | C | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.726+3705A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680118 | ||||||
| chrX:19680380
|
C | CA | 22 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(19): Show | 22 | HG00673.hp1 HG01070.hp1 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+3442dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680380 | ||||||
| chrX:19680380
|
CA | C | 16 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0095others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.726+3442delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680380 | ||||||
| chrX:19680450
|
A | G | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.726+3373T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680450 | ||||||
| chrX:19680581
|
A | C | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.726+3242T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680581 | ||||||
| chrX:19680942
|
G | A | 18 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(15): Show | 18 | HG01070.hp1 HG01106.hp1 HG02486.hp1 others(15): Show |
intron_variant | MODIFIER | c.726+2881C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19680942 | ||||||
| chrX:19681014
|
A | G | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.726+2809T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681014 | ||||||
| chrX:19681034
|
A | AT | 3 | a0001c0001t0001g0203a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01070.hp1 HG03579.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.726+2788dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681034 | ||||||
| chrX:19681034
|
AT | A | 1 | a0001c0001t0001g0201 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.726+2788delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681034 | ||||||
| chrX:19681074
|
T | C | 75 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.726+2749A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681074 | ||||||
| chrX:19681126
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.726+2697C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681126 | ||||||
| chrX:19681261
|
C | T | 2 | a0001c0001t0001g0175a0001c0010t0001g0199 | 2 | HG01884.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.726+2562G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681261 | ||||||
| chrX:19681660
|
C | T | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.726+2163G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681660 | ||||||
| chrX:19681741
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+2082C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681741 | ||||||
| chrX:19681792
|
G | T | 21 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(18): Show | 21 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.726+2031C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681792 | ||||||
| chrX:19681878
|
C | T | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.726+1945G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19681878 | ||||||
| chrX:19682021
|
C | T | 1 | a0001c0001t0001g0164 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.726+1802G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682021 | ||||||
| chrX:19682204
|
A | AGG | 1 | a0001c0001t0001g0148 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.726+1617_726+1618d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682204 | ||||||
| chrX:19682212
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.726+1611C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682212 | ||||||
| chrX:19682224
|
C | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(36): Show | 39 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(36): Show |
intron_variant | MODIFIER | c.726+1599G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682224 | ||||||
| chrX:19682296
|
C | T | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.726+1527G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682296 | ||||||
| chrX:19682333
|
T | TAC | 25 | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0046others(22): Show | 25 | HG00140.hp1 HG00609.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.726+1488_726+1489d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
T | TACAC | 14 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0011others(11): Show | 14 | HG01256.hp1 HG01346.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+1486_726+1489d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
T | TACACAC | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(2): Show | 5 | HG00733.hp1 HG02615.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.726+1484_726+1489d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
T | TACACACA others(1): Show |
1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.726+1482_726+1489d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
T | TACACACA others(5): Show |
1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.726+1478_726+1489d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
T | TACACACA others(7): Show |
1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.726+1476_726+1489d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
TAC | T | 8 | a0001c0001t0001g0033a0001c0001t0001g0097a0001c0001t0001g0117others(5): Show | 8 | HG01496.hp2 HG02015.hp1 HG03017.hp1 others(5): Show |
intron_variant | MODIFIER | c.726+1488_726+1489d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
TACAC | T | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.726+1486_726+1489d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
TACACACA others(7): Show |
T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.726+1476_726+1489d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682333
|
TACACACA others(9): Show |
T | 10 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0194others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.726+1474_726+1489d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682333 | ||||||
| chrX:19682641
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.726+1182C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682641 | ||||||
| chrX:19682838
|
G | C | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.726+985C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682838 | ||||||
| chrX:19682894
|
C | CA | 2 | a0001c0001t0001g0005a0001c0001t0010g0004 | 2 | HG02055.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.726+928dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682894 | ||||||
| chrX:19682964
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.726+859C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19682964 | ||||||
| chrX:19683102
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.726+721T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683102 | ||||||
| chrX:19683161
|
GC | G | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.726+661delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683161 | ||||||
| chrX:19683377
|
T | C | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.726+446A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683377 | ||||||
| chrX:19683465
|
C | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.726+358G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683465 | ||||||
| chrX:19683500
|
G | A | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.726+323C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683500 | ||||||
| chrX:19683516
|
G | A | 9 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.726+307C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683516 | ||||||
| chrX:19683596
|
C | A | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.726+227G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | 19683596 | ||||||
| chrX:19684393
|
C | T | 1 | a0001c0001t0001g0162 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.521-365G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19684393 | ||||||
| chrX:19684465
|
T | C | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.521-437A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19684465 | ||||||
| chrX:19684821
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.521-793G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19684821 | ||||||
| chrX:19684837
|
G | A | 19 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(16): Show | 19 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.521-809C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19684837 | ||||||
| chrX:19684915
|
A | C | 3 | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0140 | 3 | NA18943.hp1 NA18960.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.521-887T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19684915 | ||||||
| chrX:19685263
|
A | T | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.521-1235T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19685263 | ||||||
| chrX:19685753
|
A | C | 3 | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0008g0023 | 3 | HG01123.hp1 HG01167.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.521-1725T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19685753 | ||||||
| chrX:19686127
|
A | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.521-2099T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19686127 | ||||||
| chrX:19687226
|
A | G | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.521-3198T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19687226 | ||||||
| chrX:19687354
|
A | G | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.521-3326T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19687354 | ||||||
| chrX:19687600
|
C | A | 1 | a0001c0001t0001g0105 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.521-3572G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19687600 | ||||||
| chrX:19687975
|
A | T | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.521-3947T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19687975 | ||||||
| chrX:19687995
|
T | C | 4 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.521-3967A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19687995 | ||||||
| chrX:19688090
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.521-4062A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19688090 | ||||||
| chrX:19688684
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0090 | 2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.521-4656G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19688684 | ||||||
| chrX:19689049
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.521-5021A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689049 | ||||||
| chrX:19689102
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.521-5074C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689102 | ||||||
| chrX:19689239
|
CAAGT | C | 1 | a0001c0001t0001g0104 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.521-5215_521-5212d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689239 | ||||||
| chrX:19689330
|
G | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.521-5302C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689330 | ||||||
| chrX:19689336
|
C | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.521-5308G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689336 | ||||||
| chrX:19689369
|
G | C | 1 | a0001c0001t0001g0142 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.521-5341C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689369 | ||||||
| chrX:19689483
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.521-5455G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19689483 | ||||||
| chrX:19690038
|
TTC | T | 53 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(50): Show | 53 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(50): Show |
intron_variant | MODIFIER | c.520+5572_520+5573d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690038 | ||||||
| chrX:19690038
|
TTCTC | T | 6 | a0001c0001t0001g0097a0001c0001t0001g0107a0001c0001t0001g0117others(3): Show | 6 | HG01975.hp2 HG02015.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.520+5570_520+5573d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690038 | ||||||
| chrX:19690038
|
TTCTCTC | T | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.520+5568_520+5573d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690038 | ||||||
| chrX:19690053
|
TCTCTCTC | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.520+5552_520+5558d others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690053 | ||||||
| chrX:19690058
|
CTCT | C | 16 | a0001c0001t0001g0016a0001c0001t0001g0031a0001c0001t0001g0040others(13): Show | 16 | HG01167.hp1 HG01884.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.520+5551_520+5553d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690058 | ||||||
| chrX:19690059
|
TC | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0181others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.520+5552delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690059 | ||||||
| chrX:19690060
|
C | CT | 5 | a0001c0001t0001g0079a0001c0001t0001g0114a0001c0001t0001g0115others(2): Show | 5 | HG02738.hp1 NA18966.hp1 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.520+5551dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690060 | ||||||
| chrX:19690060
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.520+5552G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690060 | ||||||
| chrX:19690060
|
CT | C | 4 | a0001c0001t0001g0071a0001c0001t0001g0083a0001c0001t0001g0096others(1): Show | 4 | HG01517.hp1 HG02040.hp1 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.520+5551delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690060 | ||||||
| chrX:19690205
|
A | C | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.520+5407T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690205 | ||||||
| chrX:19690449
|
T | C | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.520+5163A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690449 | ||||||
| chrX:19690606
|
A | G | 1 | a0001c0001t0001g0162 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.520+5006T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690606 | ||||||
| chrX:19690689
|
C | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.520+4923G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19690689 | ||||||
| chrX:19691325
|
G | A | 3 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | HG02015.hp1 HG03017.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.520+4287C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691325 | ||||||
| chrX:19691325
|
G | GCT | 2 | a0001c0001t0001g0084a0001c0001t0001g0094 | 2 | HG00609.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.520+4285_520+4286d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691325 | ||||||
| chrX:19691325
|
GCT | G | 25 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0034others(22): Show | 25 | HG00642.hp1 HG01243.hp1 HG02055.hp1 others(22): Show |
intron_variant | MODIFIER | c.520+4285_520+4286d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691325 | ||||||
| chrX:19691325
|
GCTCT | G | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG00733.hp1 HG02615.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.520+4283_520+4286d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691325 | ||||||
| chrX:19691325
|
GCTCTCT | G | 17 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0044others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.520+4281_520+4286d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691325 | ||||||
| chrX:19691327
|
T | G | 8 | a0001c0001t0001g0154a0001c0002t0001g0179a0001c0002t0002g0187others(5): Show | 8 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.520+4285A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691327 | ||||||
| chrX:19691331
|
T | G | 3 | a0001c0002t0002g0178a0001c0002t0002g0188a0001c0002t0002g0202 | 3 | HG02615.hp2 HG02630.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.520+4281A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691331 | ||||||
| chrX:19691348
|
C | A | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.520+4264G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691348 | ||||||
| chrX:19691348
|
C | CTATA | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.520+4263_520+4264i others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691348 | ||||||
| chrX:19691348
|
CTCTCTCT others(3): Show |
C | 1 | a0001c0003t0002g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.520+4254_520+4263d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691348 | ||||||
| chrX:19691350
|
C | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0053others(2): Show | 5 | HG02818.hp2 HG03041.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.520+4262G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691350 | ||||||
| chrX:19691350
|
C | CTA | 1 | a0001c0001t0001g0075 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.520+4261_520+4262i others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691350 | ||||||
| chrX:19691350
|
C | CTATA | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.520+4261_520+4262i others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691350 | ||||||
| chrX:19691350
|
CTCTCTCT others(1): Show |
C | 1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.520+4254_520+4261d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691350 | ||||||
| chrX:19691352
|
C | A | 28 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0016others(25): Show | 28 | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.520+4260G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691352 | ||||||
| chrX:19691352
|
C | CTA | 2 | a0001c0001t0001g0005a0001c0001t0001g0050 | 2 | HG02630.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.520+4259_520+4260i others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691352 | ||||||
| chrX:19691352
|
C | CTATA | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.520+4259_520+4260i others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691352 | ||||||
| chrX:19691352
|
CTCTCTA | C | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.520+4254_520+4259d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691352 | ||||||
| chrX:19691354
|
C | A | 70 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(67): Show | 70 | HG00639.hp1 HG00733.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.520+4258G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691354 | ||||||
| chrX:19691354
|
CTCTA | C | 4 | a0001c0002t0002g0187a0001c0002t0002g0189a0001c0002t0002g0190others(1): Show | 4 | HG02559.hp1 HG02897.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.520+4254_520+4257d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691354 | ||||||
| chrX:19691356
|
C | A | 152 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(149): Show | 152 | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(149): Show |
intron_variant | MODIFIER | c.520+4256G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691356 | ||||||
| chrX:19691356
|
C | CTA | 3 | a0001c0001t0001g0070a0001c0001t0001g0132a0001c0001t0001g0156 | 3 | HG02735.hp1 NA18995.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.520+4254_520+4255d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691356 | ||||||
| chrX:19691356
|
CTA | C | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.520+4254_520+4255d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691356 | ||||||
| chrX:19691358
|
A | C | 3 | a0001c0001t0001g0025a0001c0001t0001g0072a0001c0001t0001g0090 | 3 | HG00639.hp2 HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.520+4254T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691358 | ||||||
| chrX:19691360
|
A | C | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.520+4252T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691360 | ||||||
| chrX:19691381
|
T | TTA | 43 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(40): Show | 43 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(40): Show |
intron_variant | MODIFIER | c.520+4229_520+4230d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691381 | ||||||
| chrX:19691381
|
TTA | T | 2 | a0001c0001t0001g0106a0001c0001t0001g0122 | 2 | HG01255.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.520+4229_520+4230d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691381 | ||||||
| chrX:19691410
|
T | TTA | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.520+4200_520+4201d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691410 | ||||||
| chrX:19691428
|
T | TTA | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0156others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.520+4182_520+4183d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691428 | ||||||
| chrX:19691446
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.520+4166T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691446 | ||||||
| chrX:19691698
|
G | A | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.520+3914C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19691698 | ||||||
| chrX:19692199
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.520+3413G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692199 | ||||||
| chrX:19692586
|
T | TATATACA others(11): Show |
1 | a0001c0001t0001g0167 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.520+3008_520+3025d others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692586 | ||||||
| chrX:19692624
|
C | CGT | 54 | a0001c0001t0001g0012a0001c0001t0001g0060a0001c0001t0001g0061others(51): Show | 54 | HG00280.hp1 HG00621.hp1 HG00733.hp2 others(51): Show |
intron_variant | MODIFIER | c.520+2986_520+2987d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
C | CGTGT | 10 | a0001c0001t0001g0016a0001c0001t0001g0070a0001c0001t0001g0088others(7): Show | 10 | HG00639.hp1 HG01256.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.520+2984_520+2987d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
C | CGTGTGT | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.520+2982_520+2987d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
C | CGTGTGTG others(3): Show |
1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.520+2978_520+2987d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGT | C | 25 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0015others(22): Show | 25 | HG00609.hp1 HG00642.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.520+2986_520+2987d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGT | C | 10 | a0001c0001t0001g0018a0001c0001t0001g0091a0001c0001t0001g0099others(7): Show | 10 | HG01884.hp1 HG02145.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.520+2984_520+2987d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGT | C | 10 | a0001c0001t0001g0013a0001c0001t0001g0052a0001c0001t0001g0109others(7): Show | 10 | HG02486.hp1 HG02922.hp2 HG03195.hp1 others(7): Show |
intron_variant | MODIFIER | c.520+2982_520+2987d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGTG others(1): Show |
C | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0035others(7): Show | 10 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.520+2980_520+2987d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGTG others(3): Show |
C | 23 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0024others(20): Show | 23 | HG00639.hp2 HG01167.hp1 HG01192.hp1 others(20): Show |
intron_variant | MODIFIER | c.520+2978_520+2987d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGTG others(5): Show |
C | 5 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0053others(2): Show | 5 | HG01123.hp1 HG02293.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.520+2976_520+2987d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGTG others(7): Show |
C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.520+2974_520+2987d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692624
|
CGTGTGTG others(9): Show |
C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.520+2972_520+2987d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692624 | ||||||
| chrX:19692659
|
G | A | 6 | a0001c0002t0002g0178a0001c0002t0002g0187a0001c0002t0002g0188others(3): Show | 6 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.520+2953C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692659 | ||||||
| chrX:19692661
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.520+2951C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692661 | ||||||
| chrX:19692663
|
G | A | 10 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(7): Show | 10 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.520+2949C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692663 | ||||||
| chrX:19692665
|
G | A | 11 | a0001c0001t0001g0035a0001c0001t0001g0175a0001c0002t0001g0179others(8): Show | 11 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.520+2947C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692665 | ||||||
| chrX:19692667
|
G | A | 47 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(44): Show | 47 | HG00639.hp2 HG01106.hp1 HG01167.hp1 others(44): Show |
intron_variant | MODIFIER | c.520+2945C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692667 | ||||||
| chrX:19692667
|
G | GTATA | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.520+2944_520+2945i others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692667 | ||||||
| chrX:19692669
|
G | A | 61 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(58): Show | 61 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(58): Show |
intron_variant | MODIFIER | c.520+2943C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692669 | ||||||
| chrX:19692671
|
A | G | 1 | a0001c0001t0001g0092 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.520+2941T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692671 | ||||||
| chrX:19692673
|
G | A | 68 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(65): Show | 68 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(65): Show |
intron_variant | MODIFIER | c.520+2939C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692673 | ||||||
| chrX:19692677
|
A | G | 1 | a0001c0001t0001g0092 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.520+2935T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692677 | ||||||
| chrX:19692684
|
TA | T | 3 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0012g0186 | 3 | HG02559.hp1 HG02630.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.520+2927delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692684 | ||||||
| chrX:19692684
|
TATA | T | 2 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | HG01891.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.520+2925_520+2927d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692684 | ||||||
| chrX:19692685
|
A | AT | 2 | a0001c0002t0002g0189a0001c0002t0002g0190 | 2 | NA18906.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.520+2926dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692685 | ||||||
| chrX:19692686
|
TA | T | 5 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0197others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.520+2925delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692686 | ||||||
| chrX:19692686
|
TATA | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.520+2923_520+2925d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692686 | ||||||
| chrX:19692687
|
A | T | 10 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0018others(7): Show | 10 | HG00733.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.520+2925T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692687 | ||||||
| chrX:19692687
|
ATAT | A | 1 | a0001c0001t0001g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.520+2922_520+2924d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692687 | ||||||
| chrX:19692688
|
TA | T | 3 | a0001c0001t0001g0104a0001c0001t0006g0103a0001c0006t0001g0054 | 3 | HG00673.hp1 HG03579.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.520+2923delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692688 | ||||||
| chrX:19692689
|
A | AT | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0072others(1): Show | 4 | HG02071.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.520+2922dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692689
|
A | ATATATAT | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.520+2922_520+2923i others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692689
|
A | ATT | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.520+2921_520+2922d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692689
|
A | T | 30 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(27): Show | 30 | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.520+2923T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692689
|
AT | A | 11 | a0001c0001t0001g0011a0001c0001t0001g0079a0001c0001t0001g0110others(8): Show | 11 | HG01070.hp1 HG02451.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.520+2922delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692689
|
ATT | A | 1 | a0001c0001t0001g0021 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.520+2921_520+2922d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692689 | ||||||
| chrX:19692690
|
T | TA | 9 | a0001c0001t0001g0008a0001c0001t0001g0063a0001c0001t0001g0064others(6): Show | 9 | HG01934.hp1 HG01943.hp1 HG02293.hp1 others(6): Show |
intron_variant | MODIFIER | c.520+2921_520+2922i others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692690 | ||||||
| chrX:19692690
|
T | TATA | 1 | a0001c0001t0001g0092 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.520+2921_520+2922i others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692690 | ||||||
| chrX:19692691
|
T | A | 27 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0024others(24): Show | 27 | HG01167.hp1 HG01192.hp1 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.520+2921A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692691 | ||||||
| chrX:19692692
|
T | A | 3 | a0001c0001t0001g0011a0001c0001t0001g0110a0001c0001t0001g0171 | 3 | HG02818.hp2 HG02886.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.520+2920A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692692 | ||||||
| chrX:19692820
|
T | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.520+2792A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19692820 | ||||||
| chrX:19693247
|
G | C | 1 | a0001c0001t0001g0112 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.520+2365C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19693247 | ||||||
| chrX:19693478
|
G | T | 1 | a0004c0008t0001g0030 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.520+2134C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19693478 | ||||||
| chrX:19693646
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.520+1966A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19693646 | ||||||
| chrX:19693859
|
T | C | 3 | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0140 | 3 | NA18943.hp1 NA18960.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.520+1753A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19693859 | ||||||
| chrX:19694188
|
T | C | 23 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.520+1424A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694188 | ||||||
| chrX:19694403
|
G | A | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.520+1209C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694403 | ||||||
| chrX:19694724
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.520+888G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694724 | ||||||
| chrX:19694742
|
C | T | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.520+870G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694742 | ||||||
| chrX:19694754
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.520+858G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694754 | ||||||
| chrX:19694799
|
C | T | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.520+813G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 5/17 | chrX | 19694799 | ||||||
| chrX:19696114
|
T | C | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.391-373A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19696114 | ||||||
| chrX:19696549
|
G | A | 23 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.391-808C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19696549 | ||||||
| chrX:19696552
|
G | A | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.391-811C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19696552 | ||||||
| chrX:19696804
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.391-1063A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19696804 | ||||||
| chrX:19697281
|
C | T | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.391-1540G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19697281 | ||||||
| chrX:19697431
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.391-1690T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19697431 | ||||||
| chrX:19697621
|
T | C | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.391-1880A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19697621 | ||||||
| chrX:19698053
|
T | C | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.391-2312A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698053 | ||||||
| chrX:19698477
|
A | G | 72 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(69): Show |
intron_variant | MODIFIER | c.391-2736T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698477 | ||||||
| chrX:19698669
|
G | C | 1 | a0001c0001t0001g0164 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.391-2928C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698669 | ||||||
| chrX:19698820
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.391-3079G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698820 | ||||||
| chrX:19698883
|
T | TTGAA | 10 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0093others(7): Show | 10 | HG01884.hp1 HG02293.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.391-3146_391-3143d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698883 | ||||||
| chrX:19698883
|
TTGAA | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG00733.hp1 HG01106.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.391-3146_391-3143d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698883 | ||||||
| chrX:19698883
|
TTGAATGA others(1): Show |
T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.391-3150_391-3143d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19698883 | ||||||
| chrX:19699458
|
C | T | 23 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.391-3717G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19699458 | ||||||
| chrX:19699506
|
T | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.391-3765A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19699506 | ||||||
| chrX:19699576
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.391-3835C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19699576 | ||||||
| chrX:19699761
|
G | A | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.391-4020C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19699761 | ||||||
| chrX:19700089
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.391-4348C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19700089 | ||||||
| chrX:19700204
|
C | T | 2 | a0001c0001t0001g0081a0001c0001t0001g0203 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.391-4463G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19700204 | ||||||
| chrX:19700525
|
A | T | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.391-4784T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19700525 | ||||||
| chrX:19700800
|
G | C | 12 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(9): Show | 12 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(9): Show |
intron_variant | MODIFIER | c.391-5059C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19700800 | ||||||
| chrX:19700956
|
A | T | 1 | a0001c0001t0001g0021 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.391-5215T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19700956 | ||||||
| chrX:19701146
|
A | C | 41 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(38): Show | 41 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.391-5405T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701146 | ||||||
| chrX:19701229
|
C | A | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.391-5488G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701229 | ||||||
| chrX:19701257
|
G | A | 1 | a0001c0001t0001g0151 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.391-5516C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701257 | ||||||
| chrX:19701676
|
G | A | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | NA18943.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.390+5205C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701676 | ||||||
| chrX:19701857
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.390+5024G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701857 | ||||||
| chrX:19701893
|
A | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(36): Show | 39 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(36): Show |
intron_variant | MODIFIER | c.390+4988T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701893 | ||||||
| chrX:19701963
|
T | C | 1 | a0001c0001t0001g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.390+4918A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19701963 | ||||||
| chrX:19702104
|
A | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.390+4777T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702104 | ||||||
| chrX:19702447
|
G | C | 39 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(36): Show | 39 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(36): Show |
intron_variant | MODIFIER | c.390+4434C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702447 | ||||||
| chrX:19702525
|
G | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.390+4356C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702525 | ||||||
| chrX:19702656
|
T | TA | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.390+4224dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702656 | ||||||
| chrX:19702667
|
C | A | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.390+4214G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702667 | ||||||
| chrX:19702679
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.390+4202G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702679 | ||||||
| chrX:19702779
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.390+4102G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19702779 | ||||||
| chrX:19703322
|
T | TA | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.390+3558dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703322 | ||||||
| chrX:19703322
|
TA | T | 3 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03041.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.390+3558delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703322 | ||||||
| chrX:19703696
|
C | CTCTG | 2 | a0001c0001t0001g0161a0001c0001t0001g0171 | 2 | HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.390+3184_390+3185i others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
C | CTG | 18 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0033others(15): Show | 18 | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.390+3183_390+3184d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
C | CTGTG | 14 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0041others(11): Show | 14 | HG01433.hp1 HG01496.hp1 HG01975.hp2 others(11): Show |
intron_variant | MODIFIER | c.390+3181_390+3184d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
C | CTGTGTG | 4 | a0001c0001t0001g0042a0001c0001t0001g0134a0001c0001t0001g0138others(1): Show | 4 | HG03130.hp1 NA18979.hp2 NA18985.hp1 others(1): Show |
intron_variant | MODIFIER | c.390+3179_390+3184d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
C | CTGTGTGT others(1): Show |
2 | a0001c0001t0001g0020a0001c0001t0001g0106 | 2 | HG01255.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.390+3177_390+3184d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTG | C | 26 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0012others(23): Show | 26 | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(23): Show |
intron_variant | MODIFIER | c.390+3183_390+3184d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTG | C | 21 | a0001c0001t0001g0019a0001c0001t0001g0035a0001c0001t0001g0037others(18): Show | 21 | HG00280.hp1 HG00639.hp1 HG01123.hp2 others(18): Show |
intron_variant | MODIFIER | c.390+3181_390+3184d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTG | C | 21 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(18): Show | 21 | HG00738.hp1 HG01109.hp1 HG01123.hp1 others(18): Show |
intron_variant | MODIFIER | c.390+3179_390+3184d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(1): Show |
C | 25 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0018others(22): Show | 25 | HG00639.hp2 HG00673.hp1 HG01070.hp2 others(22): Show |
intron_variant | MODIFIER | c.390+3177_390+3184d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(3): Show |
C | 11 | a0001c0001t0001g0005a0001c0001t0001g0064a0001c0001t0001g0067others(8): Show | 11 | HG01891.hp1 HG01943.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.390+3175_390+3184d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(5): Show |
C | 7 | a0001c0001t0001g0086a0001c0001t0001g0167a0001c0001t0001g0168others(4): Show | 7 | HG01981.hp1 HG02559.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.390+3173_390+3184d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(7): Show |
C | 4 | a0001c0001t0001g0013a0001c0001t0001g0196a0001c0001t0001g0201others(1): Show | 4 | NA18906.hp2 NA19240.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.390+3171_390+3184d others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(9): Show |
C | 7 | a0001c0001t0001g0084a0001c0001t0001g0094a0001c0001t0001g0184others(4): Show | 7 | HG00609.hp1 HG02083.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.390+3169_390+3184d others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(11): Show |
C | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.390+3167_390+3184d others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(13): Show |
C | 1 | a0001c0001t0001g0117 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.390+3165_390+3184d others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(15): Show |
C | 2 | a0001c0001t0001g0097a0001c0001t0001g0118 | 2 | HG03017.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.390+3163_390+3184d others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703696
|
CTGTGTGT others(19): Show |
C | 7 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(4): Show | 7 | HG01070.hp1 HG01106.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.390+3159_390+3184d others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703696 | ||||||
| chrX:19703700
|
G | C | 1 | a0001c0001t0002g0003 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.390+3181C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703700 | ||||||
| chrX:19703972
|
T | A | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.390+2909A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19703972 | ||||||
| chrX:19704032
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.390+2849G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19704032 | ||||||
| chrX:19704090
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.390+2791C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19704090 | ||||||
| chrX:19704120
|
C | G | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.390+2761G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19704120 | ||||||
| chrX:19704171
|
C | CT | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.390+2709dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19704171 | ||||||
| chrX:19704854
|
CCTT | C | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.390+2024_390+2026d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19704854 | ||||||
| chrX:19705160
|
T | C | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.390+1721A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705160 | ||||||
| chrX:19705237
|
T | C | 2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.390+1644A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705237 | ||||||
| chrX:19705528
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.390+1353C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705528 | ||||||
| chrX:19705582
|
G | T | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.390+1299C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705582 | ||||||
| chrX:19705688
|
T | A | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.390+1193A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705688 | ||||||
| chrX:19705762
|
G | C | 4 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(1): Show | 4 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.390+1119C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19705762 | ||||||
| chrX:19706600
|
A | C | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.390+281T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 4/17 | chrX | 19706600 | ||||||
| chrX:19707018
|
T | C | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.287-34A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707018 | ||||||
| chrX:19707148
|
T | G | 2 | a0001c0001t0001g0114a0001c0001t0001g0123 | 2 | NA18966.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.287-164A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707148 | ||||||
| chrX:19707206
|
A | G | 31 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(28): Show | 31 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.287-222T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707206 | ||||||
| chrX:19707578
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.287-594A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707578 | ||||||
| chrX:19707642
|
G | T | 53 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(50): Show | 53 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.287-658C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707642 | ||||||
| chrX:19707830
|
G | GAGAC | 23 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0015others(20): Show | 23 | HG01106.hp1 HG01496.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.287-850_287-847dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707830 | ||||||
| chrX:19707830
|
G | GAGACAGA others(1): Show |
5 | a0001c0001t0001g0006a0001c0001t0001g0053a0001c0001t0001g0177others(2): Show | 5 | HG01070.hp1 HG02145.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.287-854_287-847dup others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707830 | ||||||
| chrX:19707830
|
GAGAC | G | 8 | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0001g0141others(5): Show | 8 | HG00639.hp1 HG02027.hp1 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.287-850_287-847del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707830 | ||||||
| chrX:19707830
|
GAGACAGA others(1): Show |
G | 38 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(35): Show | 38 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(35): Show |
intron_variant | MODIFIER | c.287-854_287-847del others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707830 | ||||||
| chrX:19707830
|
GAGACAGA others(5): Show |
G | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.287-858_287-847del others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19707830 | ||||||
| chrX:19708009
|
A | G | 1 | a0001c0001t0001g0078 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.287-1025T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708009 | ||||||
| chrX:19708194
|
A | G | 2 | a0001c0001t0001g0096a0001c0001t0001g0116 | 2 | NA18953.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.287-1210T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708194 | ||||||
| chrX:19708630
|
T | C | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.287-1646A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708630 | ||||||
| chrX:19708664
|
G | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.287-1680C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708664 | ||||||
| chrX:19708683
|
C | A | 1 | a0001c0001t0001g0121 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.287-1699G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708683 | ||||||
| chrX:19708803
|
T | C | 1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.287-1819A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708803 | ||||||
| chrX:19708804
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.287-1820G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19708804 | ||||||
| chrX:19709856
|
A | AT | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.287-2873dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19709856 | ||||||
| chrX:19710078
|
T | C | 54 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(51): Show | 54 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(51): Show |
intron_variant | MODIFIER | c.287-3094A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710078 | ||||||
| chrX:19710314
|
G | C | 3 | a0001c0001t0001g0012a0001c0001t0001g0152a0003c0005t0001g0157 | 3 | HG01074.hp1 HG01517.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.287-3330C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710314 | ||||||
| chrX:19710352
|
C | T | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.287-3368G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710352 | ||||||
| chrX:19710382
|
T | C | 3 | a0001c0001t0001g0012a0001c0001t0001g0152a0003c0005t0001g0157 | 3 | HG01074.hp1 HG01517.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.287-3398A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710382 | ||||||
| chrX:19710453
|
G | A | 1 | a0001c0002t0002g0188 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.287-3469C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710453 | ||||||
| chrX:19710486
|
C | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-3502G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710486 | ||||||
| chrX:19710764
|
G | A | 1 | a0001c0001t0001g0048 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.287-3780C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710764 | ||||||
| chrX:19710987
|
C | T | 89 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(86): Show | 89 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(86): Show |
intron_variant | MODIFIER | c.287-4003G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19710987 | ||||||
| chrX:19711020
|
G | A | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.287-4036C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19711020 | ||||||
| chrX:19711118
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.287-4134T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19711118 | ||||||
| chrX:19711181
|
T | G | 1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.287-4197A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19711181 | ||||||
| chrX:19711526
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.287-4542A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19711526 | ||||||
| chrX:19712211
|
A | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.287-5227T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19712211 | ||||||
| chrX:19712609
|
T | G | 11 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 11 | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(8): Show |
intron_variant | MODIFIER | c.287-5625A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19712609 | ||||||
| chrX:19713077
|
G | T | 1 | a0001c0001t0001g0104 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.287-6093C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713077 | ||||||
| chrX:19713116
|
G | A | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.287-6132C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713116 | ||||||
| chrX:19713269
|
C | CT | 5 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0004g0032others(2): Show | 5 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.287-6286dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713269 | ||||||
| chrX:19713346
|
T | G | 1 | a0001c0001t0001g0154 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.287-6362A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713346 | ||||||
| chrX:19713561
|
C | CA | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(16): Show | 19 | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(16): Show |
intron_variant | MODIFIER | c.287-6578dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713561 | ||||||
| chrX:19713953
|
G | A | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.287-6969C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19713953 | ||||||
| chrX:19714452
|
T | C | 42 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(39): Show | 42 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(39): Show |
intron_variant | MODIFIER | c.287-7468A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19714452 | ||||||
| chrX:19714509
|
T | TA | 41 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(38): Show | 41 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(38): Show |
intron_variant | MODIFIER | c.287-7526dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19714509 | ||||||
| chrX:19714518
|
G | T | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.287-7534C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19714518 | ||||||
| chrX:19714787
|
T | C | 1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.287-7803A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19714787 | ||||||
| chrX:19714805
|
T | A | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.287-7821A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19714805 | ||||||
| chrX:19715274
|
C | CA | 32 | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0040others(29): Show | 32 | HG00621.hp1 HG00639.hp2 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.287-8291dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19715274 | ||||||
| chrX:19715274
|
C | CAA | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.287-8292_287-8291d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19715274 | ||||||
| chrX:19715274
|
CA | C | 20 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0192others(17): Show | 20 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.287-8291delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19715274 | ||||||
| chrX:19715691
|
G | A | 76 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(73): Show | 76 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(73): Show |
intron_variant | MODIFIER | c.287-8707C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19715691 | ||||||
| chrX:19715933
|
TG | T | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.287-8950delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19715933 | ||||||
| chrX:19716000
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.287-9016A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19716000 | ||||||
| chrX:19716307
|
T | C | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.287-9323A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19716307 | ||||||
| chrX:19717025
|
G | C | 1 | a0001c0001t0001g0204 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.287-10041C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717025 | ||||||
| chrX:19717054
|
G | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.287-10070C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717054 | ||||||
| chrX:19717180
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.287-10196C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717180 | ||||||
| chrX:19717217
|
T | C | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.287-10233A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717217 | ||||||
| chrX:19717344
|
AG | A | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.287-10361delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717344 | ||||||
| chrX:19717609
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.287-10625G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717609 | ||||||
| chrX:19717632
|
A | AG | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.287-10649dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717632 | ||||||
| chrX:19717651
|
A | AC | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.287-10668dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717651 | ||||||
| chrX:19717816
|
A | T | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.287-10832T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717816 | ||||||
| chrX:19717849
|
G | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-10865C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717849 | ||||||
| chrX:19717926
|
A | AG | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.287-10943_287-1094 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19717926 | ||||||
| chrX:19718010
|
A | AG | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.287-11027dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718010 | ||||||
| chrX:19718139
|
T | TAC | 27 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0055others(24): Show | 27 | HG00609.hp1 HG01109.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.287-11157_287-1115 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
T | TACAC | 6 | a0001c0001t0001g0006a0001c0001t0001g0050a0001c0001t0001g0053others(3): Show | 6 | HG01496.hp1 HG02055.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.287-11159_287-1115 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
T | TACACAC | 7 | a0001c0001t0001g0005a0001c0001t0001g0177a0001c0001t0001g0192others(4): Show | 7 | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.287-11161_287-1115 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
T | TACACACA others(1): Show |
3 | a0001c0001t0001g0018a0001c0001t0001g0200a0001c0001t0009g0193 | 3 | HG02970.hp1 HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.287-11163_287-1115 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
T | TACACACA others(3): Show |
4 | a0001c0001t0001g0194a0001c0001t0001g0197a0001c0001t0001g0198others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.287-11165_287-1115 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
TAC | T | 17 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(14): Show | 17 | HG00733.hp1 HG01123.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.287-11157_287-1115 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
TACAC | T | 5 | a0001c0001t0001g0033a0001c0001t0001g0142a0001c0001t0001g0145others(2): Show | 5 | HG01891.hp2 HG02027.hp1 HG02074.hp1 others(2): Show |
intron_variant | MODIFIER | c.287-11159_287-1115 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718139
|
TACACACA others(1): Show |
T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-11163_287-1115 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718139 | ||||||
| chrX:19718301
|
T | A | 60 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(57): Show | 60 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.287-11317A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718301 | ||||||
| chrX:19718618
|
C | T | 60 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(57): Show | 60 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.287-11634G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718618 | ||||||
| chrX:19718737
|
C | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.287-11753G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718737 | ||||||
| chrX:19718835
|
T | C | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.287-11851A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19718835 | ||||||
| chrX:19719279
|
T | A | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.287-12295A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719279 | ||||||
| chrX:19719437
|
T | C | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.287-12453A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719437 | ||||||
| chrX:19719849
|
C | CTAA | 4 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0031others(1): Show | 4 | HG00639.hp1 HG01167.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.287-12868_287-1286 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719849 | ||||||
| chrX:19719849
|
CTAA | C | 20 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(17): Show | 20 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.287-12868_287-1286 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719849 | ||||||
| chrX:19719849
|
CTAATAA | C | 10 | a0001c0001t0001g0041a0001c0002t0001g0179a0001c0002t0002g0178others(7): Show | 10 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.287-12871_287-1286 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719849 | ||||||
| chrX:19719880
|
C | CAAT | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG00733.hp2 HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.287-12899_287-1289 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19719880 | ||||||
| chrX:19720163
|
G | A | 38 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(35): Show | 38 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(35): Show |
intron_variant | MODIFIER | c.287-13179C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19720163 | ||||||
| chrX:19720332
|
T | TC | 1 | a0001c0001t0001g0090 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.287-13349dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19720332 | ||||||
| chrX:19720365
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.287-13381C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19720365 | ||||||
| chrX:19720536
|
A | G | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.287-13552T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19720536 | ||||||
| chrX:19720594
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.287-13610G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19720594 | ||||||
| chrX:19721334
|
A | AG | 1 | a0001c0001t0001g0090 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.287-14351_287-1435 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19721334 | ||||||
| chrX:19721518
|
G | A | 12 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(9): Show | 12 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-14534C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19721518 | ||||||
| chrX:19721563
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.287-14579A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19721563 | ||||||
| chrX:19722356
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.287-15372G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722356 | ||||||
| chrX:19722487
|
G | A | 4 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(1): Show | 4 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.287-15503C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722487 | ||||||
| chrX:19722531
|
G | GGT | 4 | a0001c0001t0001g0088a0001c0001t0001g0150a0001c0001t0001g0174others(1): Show | 4 | HG01070.hp1 HG03942.hp1 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.287-15549_287-1554 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722531
|
G | GGTGT | 4 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(1): Show | 4 | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.287-15551_287-1554 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722531
|
G | GGTGTGTG others(13): Show |
2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.287-15567_287-1554 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722531
|
G | GGTGTGTG others(15): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.287-15569_287-1554 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722531
|
GGT | G | 42 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(39): Show | 42 | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(39): Show |
intron_variant | MODIFIER | c.287-15549_287-1554 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722531
|
GGTGT | G | 19 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(16): Show | 19 | HG00609.hp1 HG00639.hp2 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.287-15551_287-1554 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722531 | ||||||
| chrX:19722555
|
T | C | 3 | a0001c0001t0001g0087a0001c0001t0001g0120a0001c0001t0001g0175 | 3 | HG02723.hp2 HG04228.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.287-15571A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722555 | ||||||
| chrX:19722557
|
C | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-15573G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722557 | ||||||
| chrX:19722559
|
C | T | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15575G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722559 | ||||||
| chrX:19722562
|
GCGCACT | G | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15584_287-1557 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722562 | ||||||
| chrX:19722569
|
G | GGT | 10 | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0067others(7): Show | 10 | HG00738.hp1 HG02486.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.287-15587_287-1558 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
G | GGTGT | 6 | a0001c0001t0001g0042a0001c0001t0001g0121a0001c0001t0001g0168others(3): Show | 6 | HG00140.hp1 HG02451.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.287-15589_287-1558 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
G | GGTGTGT | 1 | a0001c0001t0001g0167 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.287-15591_287-1558 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
G | T | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15585C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
GGT | G | 95 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(92): Show | 95 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.287-15587_287-1558 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
GGTGT | G | 26 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0024others(23): Show | 26 | HG01070.hp1 HG01243.hp1 HG01255.hp1 others(23): Show |
intron_variant | MODIFIER | c.287-15589_287-1558 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
GGTGTGT | G | 7 | a0001c0001t0001g0029a0001c0001t0001g0088a0001c0001t0001g0110others(4): Show | 7 | HG01928.hp1 HG03516.hp1 HG03579.hp1 others(4): Show |
intron_variant | MODIFIER | c.287-15591_287-1558 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
GGTGTGTG others(1): Show |
G | 2 | a0001c0001t0001g0050a0001c0001t0001g0176 | 2 | HG02132.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.287-15593_287-1558 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722569
|
GGTGTGTG others(7): Show |
G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.287-15599_287-1558 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722569 | ||||||
| chrX:19722579
|
T | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15595A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722579 | ||||||
| chrX:19722583
|
T | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15599A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722583 | ||||||
| chrX:19722584
|
G | GCACT | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15601_287-1560 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722584 | ||||||
| chrX:19722585
|
T | G | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-15601A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722585 | ||||||
| chrX:19722819
|
C | CA | 45 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(42): Show | 45 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.287-15836dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722819 | ||||||
| chrX:19722819
|
CA | C | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.287-15836delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722819 | ||||||
| chrX:19722932
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.287-15948G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19722932 | ||||||
| chrX:19723142
|
C | CA | 3 | a0001c0001t0001g0011a0001c0001t0001g0090a0001c0001t0001g0136 | 3 | HG02818.hp2 HG03831.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.287-16159dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723142 | ||||||
| chrX:19723142
|
CA | C | 18 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(15): Show | 18 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.287-16159delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723142 | ||||||
| chrX:19723142
|
CAA | C | 10 | a0001c0001t0001g0006a0001c0001t0001g0192a0001c0002t0001g0179others(7): Show | 10 | HG02451.hp1 HG02486.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.287-16160_287-1615 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723142 | ||||||
| chrX:19723142
|
CAAAA | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-16162_287-1615 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723142 | ||||||
| chrX:19723264
|
C | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-16280G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723264 | ||||||
| chrX:19723718
|
A | G | 1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.287-16734T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723718 | ||||||
| chrX:19723774
|
A | T | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.287-16790T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723774 | ||||||
| chrX:19723782
|
A | G | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.287-16798T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19723782 | ||||||
| chrX:19724057
|
G | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.287-17073C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19724057 | ||||||
| chrX:19724281
|
T | C | 1 | a0001c0001t0001g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.287-17297A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19724281 | ||||||
| chrX:19724567
|
T | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.287-17583A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19724567 | ||||||
| chrX:19724731
|
C | T | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.287-17747G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19724731 | ||||||
| chrX:19725292
|
T | TA | 42 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0020others(39): Show | 42 | HG00609.hp1 HG00639.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.287-18309dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19725292 | ||||||
| chrX:19725292
|
T | TAA | 24 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(21): Show | 24 | HG01243.hp1 HG01975.hp1 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.287-18310_287-1830 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19725292 | ||||||
| chrX:19725292
|
T | TAAA | 2 | a0001c0001t0001g0042a0001c0001t0001g0170 | 2 | HG03130.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.287-18311_287-1830 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19725292 | ||||||
| chrX:19725292
|
TA | T | 7 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0078others(4): Show | 7 | HG01070.hp1 HG02145.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.287-18309delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19725292 | ||||||
| chrX:19725639
|
T | C | 5 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(2): Show | 5 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.287-18655A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19725639 | ||||||
| chrX:19726253
|
G | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.287-19269C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19726253 | ||||||
| chrX:19726478
|
C | CT | 2 | a0001c0001t0001g0184a0001c0001t0001g0185 | 2 | HG00621.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.287-19495dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19726478 | ||||||
| chrX:19726636
|
C | A | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.287-19652G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19726636 | ||||||
| chrX:19726664
|
TACG | T | 28 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(25): Show | 28 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.286+19651_286+1965 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19726664 | ||||||
| chrX:19727699
|
A | C | 51 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(48): Show | 51 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(48): Show |
intron_variant | MODIFIER | c.286+18619T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19727699 | ||||||
| chrX:19727752
|
G | A | 1 | a0001c0001t0001g0110 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.286+18566C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19727752 | ||||||
| chrX:19728334
|
C | G | 49 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(46): Show | 49 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(46): Show |
intron_variant | MODIFIER | c.286+17984G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19728334 | ||||||
| chrX:19728640
|
A | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(44): Show | 47 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(44): Show |
intron_variant | MODIFIER | c.286+17678T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19728640 | ||||||
| chrX:19728765
|
G | T | 5 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(2): Show | 5 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.286+17553C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19728765 | ||||||
| chrX:19729054
|
G | T | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.286+17264C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19729054 | ||||||
| chrX:19729184
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.286+17134A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19729184 | ||||||
| chrX:19729670
|
C | A | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.286+16648G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19729670 | ||||||
| chrX:19729961
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.286+16357T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19729961 | ||||||
| chrX:19730155
|
T | A | 1 | a0001c0001t0001g0163 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.286+16163A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19730155 | ||||||
| chrX:19730209
|
A | T | 92 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(89): Show |
intron_variant | MODIFIER | c.286+16109T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19730209 | ||||||
| chrX:19730427
|
T | C | 4 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0182others(1): Show | 4 | HG00280.hp1 HG01496.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+15891A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19730427 | ||||||
| chrX:19730429
|
T | C | 76 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(73): Show | 76 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(73): Show |
intron_variant | MODIFIER | c.286+15889A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19730429 | ||||||
| chrX:19730430
|
G | A | 1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.286+15888C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19730430 | ||||||
| chrX:19731346
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.286+14972C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19731346 | ||||||
| chrX:19731351
|
C | A | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.286+14967G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19731351 | ||||||
| chrX:19732218
|
C | T | 2 | a0001c0001t0001g0165a0005c0007t0001g0166 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.286+14100G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732218 | ||||||
| chrX:19732311
|
T | C | 2 | a0001c0002t0002g0189a0001c0002t0002g0190 | 2 | NA18906.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.286+14007A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732311 | ||||||
| chrX:19732337
|
T | C | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.286+13981A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732337 | ||||||
| chrX:19732507
|
C | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.286+13811G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732507 | ||||||
| chrX:19732596
|
T | TAC | 16 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(13): Show | 16 | HG00639.hp2 HG00733.hp1 HG01346.hp1 others(13): Show |
intron_variant | MODIFIER | c.286+13720_286+1372 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACAC | 13 | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0194others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.286+13718_286+1372 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACACAC | 2 | a0001c0001t0001g0195a0001c0010t0001g0199 | 2 | HG01884.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.286+13716_286+1372 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACACACA others(1): Show |
1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.286+13714_286+1372 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACACACA others(3): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.286+13712_286+1372 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACACACA others(5): Show |
1 | a0001c0001t0003g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.286+13710_286+1372 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
T | TACACACA others(11): Show |
1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.286+13704_286+1372 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
TAC | T | 104 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(101): Show | 104 | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(101): Show |
intron_variant | MODIFIER | c.286+13720_286+1372 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
TACAC | T | 9 | a0001c0001t0001g0104a0001c0001t0001g0130a0001c0002t0001g0179others(6): Show | 9 | HG00673.hp1 HG01433.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.286+13718_286+1372 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
TACACAC | T | 3 | a0001c0001t0001g0079a0001c0002t0002g0189a0001c0003t0013g0068 | 3 | HG02738.hp1 HG03486.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.286+13716_286+1372 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
TACACACA others(9): Show |
T | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.286+13706_286+1372 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732596
|
TACACACA others(13): Show |
T | 2 | a0001c0001t0001g0102a0001c0001t0001g0112 | 2 | HG03654.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.286+13702_286+1372 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732596 | ||||||
| chrX:19732647
|
C | G | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.286+13671G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732647 | ||||||
| chrX:19732702
|
T | C | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.286+13616A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732702 | ||||||
| chrX:19732707
|
TC | T | 59 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(56): Show | 59 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.286+13610delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19732707 | ||||||
| chrX:19733382
|
G | C | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.286+12936C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19733382 | ||||||
| chrX:19733421
|
AATATT | A | 1 | a0001c0001t0001g0164 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.286+12892_286+1289 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19733421 | ||||||
| chrX:19733427
|
A | T | 5 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(2): Show | 5 | HG02055.hp1 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286+12891T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19733427 | ||||||
| chrX:19733447
|
T | C | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.286+12871A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19733447 | ||||||
| chrX:19733608
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.286+12710A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19733608 | ||||||
| chrX:19734340
|
T | C | 59 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(56): Show | 59 | HG00609.hp1 HG00639.hp2 HG01070.hp2 others(56): Show |
intron_variant | MODIFIER | c.286+11978A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19734340 | ||||||
| chrX:19734586
|
A | G | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.286+11732T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19734586 | ||||||
| chrX:19734666
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.286+11652G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19734666 | ||||||
| chrX:19735004
|
T | A | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.286+11314A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735004 | ||||||
| chrX:19735313
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.286+11005G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735313 | ||||||
| chrX:19735434
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+10884A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735434 | ||||||
| chrX:19735471
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.286+10847G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735471 | ||||||
| chrX:19735594
|
A | T | 4 | a0001c0001t0001g0033a0001c0001t0001g0043a0001c0001t0001g0044others(1): Show | 4 | NA18957.hp2 NA18979.hp1 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+10724T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735594 | ||||||
| chrX:19735610
|
G | T | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.286+10708C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735610 | ||||||
| chrX:19735724
|
C | CG | 90 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(87): Show | 90 | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(87): Show |
intron_variant | MODIFIER | c.286+10593dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
C | CGG | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(62): Show | 65 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(62): Show |
intron_variant | MODIFIER | c.286+10592_286+1059 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
C | CGGG | 18 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(15): Show | 18 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.286+10591_286+1059 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
C | CGGGG | 2 | a0001c0001t0001g0002a0001c0001t0001g0050 | 2 | HG01517.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.286+10590_286+1059 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
C | CGGGGGG | 2 | a0001c0001t0001g0024a0001c0001t0004g0032 | 2 | HG01515.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.286+10588_286+1059 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
C | CGGGGGGG others(1): Show |
1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.286+10586_286+1059 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
CG | C | 9 | a0001c0001t0001g0059a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01071.hp2 HG01109.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.286+10593delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735724
|
CGG | C | 2 | a0001c0001t0001g0018a0001c0001t0001g0197 | 2 | HG01070.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.286+10592_286+1059 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735724 | ||||||
| chrX:19735732
|
G | GT | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.286+10585_286+1058 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735732 | ||||||
| chrX:19735734
|
G | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.286+10584C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735734 | ||||||
| chrX:19735736
|
G | GGGGT | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.286+10581_286+1058 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735736 | ||||||
| chrX:19735736
|
G | GGGT | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.286+10581_286+1058 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735736 | ||||||
| chrX:19735736
|
G | GGT | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.286+10581_286+1058 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735736 | ||||||
| chrX:19735737
|
T | G | 4 | a0001c0001t0001g0113a0001c0001t0001g0177a0001c0001t0011g0045others(1): Show | 4 | HG01070.hp1 HG02145.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.286+10581A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735737 | ||||||
| chrX:19735918
|
G | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.286+10400C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19735918 | ||||||
| chrX:19736004
|
G | A | 4 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.286+10314C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736004 | ||||||
| chrX:19736123
|
T | C | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.286+10195A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736123 | ||||||
| chrX:19736299
|
G | T | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.286+10019C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736299 | ||||||
| chrX:19736445
|
G | A | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.286+9873C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736445 | ||||||
| chrX:19736906
|
C | CT | 7 | a0001c0001t0001g0095a0001c0001t0001g0097a0001c0001t0001g0117others(4): Show | 7 | HG01256.hp1 HG02015.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.286+9411dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736906 | ||||||
| chrX:19736906
|
CT | C | 10 | a0001c0001t0001g0024a0001c0001t0001g0050a0001c0001t0001g0053others(7): Show | 10 | HG01070.hp1 HG01515.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.286+9411delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736906 | ||||||
| chrX:19736906
|
CTT | C | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.286+9410_286+9411d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736906 | ||||||
| chrX:19736938
|
GCT | G | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.286+9378_286+9379d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19736938 | ||||||
| chrX:19737121
|
C | T | 31 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(28): Show | 31 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.286+9197G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19737121 | ||||||
| chrX:19737353
|
CCTGGGAT others(18): Show |
C | 1 | a0001c0001t0001g0123 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.286+8940_286+8964d others(27): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19737353 | ||||||
| chrX:19737605
|
T | C | 4 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.286+8713A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19737605 | ||||||
| chrX:19737756
|
A | G | 34 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(31): Show | 34 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.286+8562T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19737756 | ||||||
| chrX:19737923
|
G | GT | 43 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(40): Show | 43 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(40): Show |
intron_variant | MODIFIER | c.286+8394dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19737923 | ||||||
| chrX:19738026
|
A | T | 2 | a0001c0002t0002g0189a0001c0002t0002g0190 | 2 | NA18906.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.286+8292T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738026 | ||||||
| chrX:19738496
|
G | A | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.286+7822C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738496 | ||||||
| chrX:19738694
|
C | CA | 15 | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0098others(12): Show | 15 | HG01106.hp1 HG02074.hp1 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.286+7623dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738694 | ||||||
| chrX:19738694
|
CA | C | 59 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(56): Show | 59 | HG00639.hp2 HG00733.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.286+7623delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738694 | ||||||
| chrX:19738694
|
CAAAAA | C | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.286+7619_286+7623d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738694 | ||||||
| chrX:19738694
|
CAAAAAA | C | 2 | a0001c0001t0001g0007a0001c0001t0001g0013 | 2 | HG00733.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.286+7618_286+7623d others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738694 | ||||||
| chrX:19738694
|
CAAAAAAA | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.286+7617_286+7623d others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738694 | ||||||
| chrX:19738787
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.286+7531C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738787 | ||||||
| chrX:19738936
|
G | A | 5 | a0001c0001t0001g0069a0001c0001t0001g0078a0001c0001t0001g0089others(2): Show | 5 | HG00642.hp1 HG01261.hp1 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.286+7382C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738936 | ||||||
| chrX:19738942
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.286+7376G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738942 | ||||||
| chrX:19738943
|
G | A | 1 | a0001c0001t0001g0126 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.286+7375C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19738943 | ||||||
| chrX:19739013
|
A | AG | 21 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0028others(18): Show | 21 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(18): Show |
intron_variant | MODIFIER | c.286+7304dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739013 | ||||||
| chrX:19739014
|
G | GA | 25 | a0001c0001t0001g0050a0001c0001t0001g0060a0001c0001t0001g0061others(22): Show | 25 | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.286+7303dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739014
|
G | GAA | 1 | a0001c0001t0001g0072 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.286+7302_286+7303d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739014
|
G | GAAA | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.286+7301_286+7303d others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739014
|
G | GAAAA | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.286+7300_286+7303d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739014
|
G | GGA | 9 | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0027others(6): Show | 9 | HG01243.hp1 HG01346.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.286+7303_286+7304i others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739014
|
GA | G | 12 | a0001c0001t0001g0018a0001c0001t0001g0175a0001c0001t0001g0176others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.286+7303delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739014 | ||||||
| chrX:19739040
|
G | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.286+7278C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739040 | ||||||
| chrX:19739087
|
T | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.286+7231A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739087 | ||||||
| chrX:19739555
|
T | C | 4 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(1): Show | 4 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+6763A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739555 | ||||||
| chrX:19739569
|
C | CT | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.286+6748dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739569 | ||||||
| chrX:19739569
|
CT | C | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.286+6748delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739569 | ||||||
| chrX:19739981
|
C | T | 4 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0055others(1): Show | 4 | HG01975.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+6337G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19739981 | ||||||
| chrX:19740231
|
C | A | 1 | a0001c0001t0001g0112 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.286+6087G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19740231 | ||||||
| chrX:19740243
|
T | C | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.286+6075A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19740243 | ||||||
| chrX:19740415
|
G | A | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.286+5903C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19740415 | ||||||
| chrX:19740782
|
T | A | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+5536A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19740782 | ||||||
| chrX:19740920
|
TCA | T | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.286+5396_286+5397d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19740920 | ||||||
| chrX:19741317
|
C | T | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.286+5001G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19741317 | ||||||
| chrX:19741453
|
G | T | 6 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.286+4865C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19741453 | ||||||
| chrX:19741677
|
T | G | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.286+4641A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19741677 | ||||||
| chrX:19741742
|
C | CTGAG | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.286+4572_286+4575d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19741742 | ||||||
| chrX:19742209
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.286+4109A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742209 | ||||||
| chrX:19742331
|
A | G | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.286+3987T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742331 | ||||||
| chrX:19742558
|
G | GT | 7 | a0001c0001t0001g0027a0001c0001t0001g0066a0001c0001t0001g0071others(4): Show | 7 | HG01346.hp1 HG02293.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.286+3759dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742558 | ||||||
| chrX:19742563
|
TTTTG | T | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+3751_286+3754d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742563 | ||||||
| chrX:19742738
|
G | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.286+3580C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742738 | ||||||
| chrX:19742763
|
A | C | 51 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(48): Show | 51 | HG00609.hp1 HG00639.hp2 HG01070.hp2 others(48): Show |
intron_variant | MODIFIER | c.286+3555T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742763 | ||||||
| chrX:19742921
|
T | C | 46 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(43): Show | 46 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(43): Show |
intron_variant | MODIFIER | c.286+3397A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19742921 | ||||||
| chrX:19743097
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.286+3221T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743097 | ||||||
| chrX:19743243
|
C | A | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.286+3075G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743243 | ||||||
| chrX:19743316
|
G | C | 3 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003 | 3 | HG01891.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.286+3002C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743316 | ||||||
| chrX:19743461
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.286+2857T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743461 | ||||||
| chrX:19743463
|
A | G | 2 | a0001c0001t0001g0132a0001c0001t0001g0140 | 2 | NA18943.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.286+2855T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743463 | ||||||
| chrX:19743516
|
T | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.286+2802A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743516 | ||||||
| chrX:19743636
|
T | C | 8 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.286+2682A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743636 | ||||||
| chrX:19743672
|
G | A | 2 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.286+2646C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19743672 | ||||||
| chrX:19744088
|
T | C | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.286+2230A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19744088 | ||||||
| chrX:19744357
|
G | C | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.286+1961C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19744357 | ||||||
| chrX:19744475
|
G | C | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.286+1843C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19744475 | ||||||
| chrX:19745050
|
G | A | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.286+1268C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19745050 | ||||||
| chrX:19745519
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.286+799G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19745519 | ||||||
| chrX:19745540
|
A | G | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.286+778T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19745540 | ||||||
| chrX:19745648
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.286+670C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19745648 | ||||||
| chrX:19746108
|
C | CA | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.286+209dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19746108 | ||||||
| chrX:19746249
|
C | A | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.286+69G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | 19746249 | ||||||
| chrX:19746586
|
G | A | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.163-145C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19746586 | ||||||
| chrX:19747010
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-569G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19747010 | ||||||
| chrX:19747049
|
T | C | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.163-608A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19747049 | ||||||
| chrX:19747346
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-905G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19747346 | ||||||
| chrX:19747519
|
G | A | 7 | a0001c0001t0001g0081a0001c0001t0001g0113a0001c0001t0001g0114others(4): Show | 7 | NA18966.hp1 NA18967.hp1 NA18977.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-1078C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19747519 | ||||||
| chrX:19747812
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.163-1371C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19747812 | ||||||
| chrX:19748042
|
C | A | 46 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(43): Show | 46 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(43): Show |
intron_variant | MODIFIER | c.163-1601G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19748042 | ||||||
| chrX:19748094
|
G | A | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.163-1653C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19748094 | ||||||
| chrX:19748995
|
C | T | 1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.163-2554G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19748995 | ||||||
| chrX:19749641
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.163-3200C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19749641 | ||||||
| chrX:19749705
|
C | T | 45 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(42): Show | 45 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(42): Show |
intron_variant | MODIFIER | c.163-3264G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19749705 | ||||||
| chrX:19749740
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.163-3299G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19749740 | ||||||
| chrX:19750152
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.163-3711C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750152 | ||||||
| chrX:19750233
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(42): Show | 45 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(42): Show |
intron_variant | MODIFIER | c.163-3792C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750233 | ||||||
| chrX:19750501
|
A | G | 1 | a0001c0001t0001g0093 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.163-4060T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750501 | ||||||
| chrX:19750827
|
G | GA | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-4387dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750827 | ||||||
| chrX:19750827
|
G | GAA | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.163-4388_163-4387d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750827 | ||||||
| chrX:19750827
|
GA | G | 2 | a0001c0001t0001g0033a0004c0008t0001g0030 | 2 | NA18979.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.163-4387delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19750827 | ||||||
| chrX:19751026
|
T | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.163-4585A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19751026 | ||||||
| chrX:19751158
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-4717G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19751158 | ||||||
| chrX:19751556
|
G | A | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.163-5115C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19751556 | ||||||
| chrX:19751917
|
G | A | 11 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(8): Show | 11 | HG01243.hp1 HG01975.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.163-5476C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19751917 | ||||||
| chrX:19752423
|
A | T | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-5982T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19752423 | ||||||
| chrX:19752896
|
G | A | 31 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(28): Show | 31 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.163-6455C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19752896 | ||||||
| chrX:19752977
|
TC | T | 1 | a0001c0001t0001g0131 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.163-6537delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19752977 | ||||||
| chrX:19753303
|
A | G | 77 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(74): Show | 77 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(74): Show |
intron_variant | MODIFIER | c.163-6862T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753303 | ||||||
| chrX:19753344
|
A | AT | 1 | a0001c0001t0001g0131 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.163-6904dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753344 | ||||||
| chrX:19753398
|
CT | C | 1 | a0001c0001t0001g0131 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.163-6958delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753398 | ||||||
| chrX:19753475
|
A | G | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-7034T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753475 | ||||||
| chrX:19753550
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.163-7109G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753550 | ||||||
| chrX:19753854
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.163-7413A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753854 | ||||||
| chrX:19753961
|
T | C | 16 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.163-7520A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19753961 | ||||||
| chrX:19754259
|
G | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 10 | HG00733.hp1 HG01106.hp1 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.163-7818C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19754259 | ||||||
| chrX:19754497
|
A | G | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.163-8056T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19754497 | ||||||
| chrX:19754570
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.163-8129G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19754570 | ||||||
| chrX:19754596
|
T | C | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.163-8155A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19754596 | ||||||
| chrX:19754714
|
G | A | 1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.163-8273C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19754714 | ||||||
| chrX:19755198
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-8757G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755198 | ||||||
| chrX:19755238
|
G | A | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.163-8797C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755238 | ||||||
| chrX:19755239
|
T | C | 80 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(77): Show | 80 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(77): Show |
intron_variant | MODIFIER | c.163-8798A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755239 | ||||||
| chrX:19755355
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.163-8914G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755355 | ||||||
| chrX:19755435
|
C | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-8994G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755435 | ||||||
| chrX:19755450
|
A | G | 1 | a0001c0001t0001g0140 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.163-9009T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755450 | ||||||
| chrX:19755451
|
C | A | 1 | a0001c0001t0001g0117 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.163-9010G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755451 | ||||||
| chrX:19755539
|
C | CA | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.163-9099dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755539 | ||||||
| chrX:19755579
|
A | G | 30 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(27): Show | 30 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.163-9138T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755579 | ||||||
| chrX:19755581
|
T | A | 1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.163-9140A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755581 | ||||||
| chrX:19755641
|
G | C | 91 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(88): Show |
intron_variant | MODIFIER | c.163-9200C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755641 | ||||||
| chrX:19755661
|
G | GT | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163-9221dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755661 | ||||||
| chrX:19755899
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.163-9458C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755899 | ||||||
| chrX:19755901
|
AC | A | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.163-9461delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19755901 | ||||||
| chrX:19756036
|
G | A | 2 | a0001c0003t0004g0180a0001c0003t0013g0068 | 2 | HG03486.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.163-9595C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19756036 | ||||||
| chrX:19756872
|
T | TA | 1 | a0001c0001t0001g0204 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.163-10432dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19756872 | ||||||
| chrX:19756872
|
TA | T | 48 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0018others(45): Show | 48 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(45): Show |
intron_variant | MODIFIER | c.163-10432delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19756872 | ||||||
| chrX:19756912
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-10471A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19756912 | ||||||
| chrX:19757129
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.163-10688C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757129 | ||||||
| chrX:19757145
|
C | CT | 46 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0018others(43): Show | 46 | HG00639.hp2 HG00642.hp1 HG01070.hp2 others(43): Show |
intron_variant | MODIFIER | c.163-10705dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757145 | ||||||
| chrX:19757145
|
C | CTT | 7 | a0001c0001t0001g0171a0001c0001t0001g0200a0001c0002t0002g0188others(4): Show | 7 | HG01106.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-10706_163-1070 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757145 | ||||||
| chrX:19757145
|
CT | C | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.163-10705delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757145 | ||||||
| chrX:19757405
|
T | C | 58 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(55): Show | 58 | HG00609.hp1 HG00639.hp2 HG01070.hp2 others(55): Show |
intron_variant | MODIFIER | c.163-10964A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757405 | ||||||
| chrX:19757481
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.163-11040G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757481 | ||||||
| chrX:19757560
|
GT | G | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.163-11120delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757560 | ||||||
| chrX:19757562
|
C | CA | 2 | a0001c0001t0001g0067a0002c0004t0001g0143 | 2 | NA18961.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.163-11122dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757562 | ||||||
| chrX:19757562
|
CA | C | 20 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(17): Show | 20 | HG00140.hp1 HG00733.hp1 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.163-11122delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757562 | ||||||
| chrX:19757562
|
CAA | C | 44 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(41): Show | 44 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.163-11123_163-1112 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757562 | ||||||
| chrX:19757562
|
CAAA | C | 3 | a0001c0001t0001g0175a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG01496.hp1 HG02451.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.163-11124_163-1112 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757562 | ||||||
| chrX:19757563
|
A | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.163-11122T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757563 | ||||||
| chrX:19757741
|
G | A | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-11300C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757741 | ||||||
| chrX:19757776
|
T | C | 1 | a0001c0001t0001g0142 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.163-11335A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19757776 | ||||||
| chrX:19758047
|
C | T | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.163-11606G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758047 | ||||||
| chrX:19758252
|
C | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.163-11811G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758252 | ||||||
| chrX:19758327
|
C | CA | 13 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0067others(10): Show | 13 | HG00140.hp1 HG01952.hp1 HG02293.hp1 others(10): Show |
intron_variant | MODIFIER | c.163-11887dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
C | CAA | 2 | a0001c0001t0001g0002a0001c0001t0001g0024 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.163-11888_163-1188 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
C | CAAA | 31 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(28): Show | 31 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.163-11889_163-1188 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
C | CAAAA | 3 | a0001c0001t0001g0026a0001c0001t0001g0137a0001c0001t0010g0004 | 3 | HG01981.hp2 HG02055.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.163-11890_163-1188 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
CA | C | 8 | a0001c0001t0001g0096a0001c0001t0001g0100a0001c0001t0001g0116others(5): Show | 8 | HG01496.hp2 HG02300.hp1 NA18948.hp1 others(5): Show |
intron_variant | MODIFIER | c.163-11887delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
CAAAAAAA others(2): Show |
C | 1 | a0001c0002t0002g0202 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.163-11895_163-1188 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
CAAAAAAA others(3): Show |
C | 14 | a0001c0001t0001g0052a0001c0001t0001g0059a0001c0002t0001g0179others(11): Show | 14 | HG01106.hp1 HG01109.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-11896_163-1188 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758327
|
CAAAAAAA others(4): Show |
C | 32 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(29): Show | 32 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(29): Show |
intron_variant | MODIFIER | c.163-11897_163-1188 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758327 | ||||||
| chrX:19758522
|
C | T | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.163-12081G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758522 | ||||||
| chrX:19758668
|
T | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-12227A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19758668 | ||||||
| chrX:19759555
|
G | A | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-13114C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759555 | ||||||
| chrX:19759873
|
A | AG | 2 | a0001c0001t0001g0022a0001c0001t0001g0203 | 2 | HG03516.hp2 NA18985.hp1 |
intron_variant | MODIFIER | c.163-13433dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759873 | ||||||
| chrX:19759980
|
G | GACA | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13540_163-1353 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759980 | ||||||
| chrX:19759983
|
AG | A | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13543delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759983 | ||||||
| chrX:19759987
|
C | G | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.163-13546G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759987 | ||||||
| chrX:19759987
|
C | T | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13546G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759987 | ||||||
| chrX:19759989
|
A | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13548T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759989 | ||||||
| chrX:19759990
|
T | C | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13549A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759990 | ||||||
| chrX:19759991
|
A | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13550T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759991 | ||||||
| chrX:19759992
|
A | T | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13551T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759992 | ||||||
| chrX:19759993
|
C | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13552G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759993 | ||||||
| chrX:19759995
|
A | T | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13554T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19759995 | ||||||
| chrX:19760007
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.163-13566G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760007 | ||||||
| chrX:19760009
|
G | GTC | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.163-13570_163-1356 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760009 | ||||||
| chrX:19760009
|
GTCTCTCT others(8): Show |
G | 2 | a0001c0001t0001g0198a0001c0001t0009g0193 | 2 | HG01071.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.163-13583_163-1356 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760009 | ||||||
| chrX:19760009
|
GTCTCTCT others(10): Show |
G | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.163-13585_163-1356 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760009 | ||||||
| chrX:19760010
|
TCTCTCTC others(6): Show |
T | 4 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0197others(1): Show | 4 | HG01070.hp2 HG01884.hp2 HG01891.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-13582_163-1357 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760010 | ||||||
| chrX:19760014
|
TCTCTCTC others(2): Show |
T | 1 | a0001c0001t0003g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.163-13582_163-1357 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760014 | ||||||
| chrX:19760020
|
TCTCCTCT others(14): Show |
T | 2 | a0001c0001t0001g0191a0001c0001t0001g0200 | 2 | HG01496.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.163-13600_163-1358 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760020 | ||||||
| chrX:19760022
|
T | TC | 1 | a0001c0001t0001g0133 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.163-13582dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760022 | ||||||
| chrX:19760022
|
TCCTCTC | T | 1 | a0001c0001t0001g0167 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.163-13587_163-1358 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760022 | ||||||
| chrX:19760022
|
TCCTCTCT others(11): Show |
T | 4 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0055others(1): Show | 4 | HG01975.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-13599_163-1358 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760022 | ||||||
| chrX:19760022
|
TCCTCTCT others(12): Show |
T | 3 | a0001c0001t0001g0018a0001c0001t0001g0192a0001c0001t0001g0196 | 3 | HG02451.hp1 HG03195.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.163-13600_163-1358 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760022 | ||||||
| chrX:19760023
|
C | CCT | 2 | a0001c0001t0001g0066a0002c0004t0001g0143 | 2 | HG02293.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.163-13584_163-1358 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
C | CTCTCT | 1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.163-13583_163-1358 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
C | T | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.163-13582G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(13): Show |
C | 2 | a0001c0001t0001g0083a0005c0007t0001g0166 | 2 | HG02040.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.163-13602_163-1358 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(15): Show |
C | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.163-13604_163-1358 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(17): Show |
C | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.163-13606_163-1358 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(19): Show |
C | 17 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(14): Show | 17 | HG00609.hp1 HG00639.hp2 HG01192.hp1 others(14): Show |
intron_variant | MODIFIER | c.163-13608_163-1358 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(21): Show |
C | 2 | a0001c0001t0001g0040a0001c0001t0001g0048 | 2 | HG02257.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.163-13610_163-1358 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(23): Show |
C | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.163-13612_163-1358 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760023
|
CCTCTCTC others(29): Show |
C | 2 | a0001c0001t0001g0031a0001c0001t0001g0094 | 2 | HG01167.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.163-13618_163-1358 others(40): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760023 | ||||||
| chrX:19760027
|
TCTCTCTC others(7): Show |
T | 5 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0010g0004others(2): Show | 5 | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-13600_163-1358 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760027 | ||||||
| chrX:19760029
|
T | TC | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-13589dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760029 | ||||||
| chrX:19760029
|
TCTCTCTC others(5): Show |
T | 5 | a0001c0001t0001g0038a0001c0001t0001g0053a0001c0001t0001g0165others(2): Show | 5 | HG02572.hp1 HG02622.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.163-13600_163-1358 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760029 | ||||||
| chrX:19760033
|
TCTCTCTC others(1): Show |
T | 4 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(1): Show | 4 | HG01070.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-13600_163-1359 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760033 | ||||||
| chrX:19760035
|
T | TCTCTCC | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.163-13600_163-1359 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760035 | ||||||
| chrX:19760037
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.163-13596A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760037 | ||||||
| chrX:19760037
|
T | TCTCTC | 1 | a0001c0001t0001g0123 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.163-13597_163-1359 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760037 | ||||||
| chrX:19760039
|
T | TCTCTCTC others(3): Show |
1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.163-13599_163-1359 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760039 | ||||||
| chrX:19760039
|
TCC | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.163-13600_163-1359 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760039 | ||||||
| chrX:19760040
|
CCCTCTCT others(2): Show |
C | 1 | a0001c0001t0001g0185 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.163-13608_163-1360 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760040 | ||||||
| chrX:19760041
|
C | A | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-13600G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCCTCT | 1 | a0001c0001t0001g0134 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.163-13601_163-1360 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCT | 29 | a0001c0001t0001g0021a0001c0001t0001g0060a0001c0001t0001g0061others(26): Show | 29 | HG00733.hp2 HG00738.hp1 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.163-13602_163-1360 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCT | 16 | a0001c0001t0001g0072a0001c0001t0001g0091a0001c0001t0001g0093others(13): Show | 16 | HG01891.hp2 HG02015.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.163-13604_163-1360 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(19): Show |
1 | a0001c0003t0002g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.163-13601_163-1360 others(30): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(15): Show |
1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.163-13601_163-1360 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(17): Show |
1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.163-13601_163-1360 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(21): Show |
1 | a0001c0002t0002g0202 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.163-13601_163-1360 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(7): Show |
1 | a0001c0002t0002g0190 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.163-13601_163-1360 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(9): Show |
2 | a0001c0002t0002g0187a0001c0002t0002g0188 | 2 | HG02630.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.163-13601_163-1360 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCC others(13): Show |
1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-13601_163-1360 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCCT others(8): Show |
2 | a0001c0002t0002g0189a0001c0002t0012g0186 | 2 | HG02559.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.163-13601_163-1360 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCT | 3 | a0001c0001t0001g0120a0001c0001t0001g0132a0001c0001t0001g0182 | 3 | HG00280.hp1 NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.163-13606_163-1360 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCTC others(1): Show |
4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0107others(1): Show | 4 | HG00733.hp1 HG01496.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-13608_163-1360 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCTC others(3): Show |
1 | a0001c0001t0001g0017 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163-13610_163-1360 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCTC others(5): Show |
2 | a0001c0001t0001g0013a0001c0001t0001g0096 | 2 | NA18953.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.163-13612_163-1360 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCTC others(7): Show |
1 | a0001c0001t0001g0116 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.163-13614_163-1360 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CCTCTCTC others(11): Show |
1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.163-13618_163-1360 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CT | 6 | a0001c0001t0001g0063a0001c0001t0001g0071a0001c0001t0001g0089others(3): Show | 6 | HG00642.hp1 HG01517.hp1 HG01934.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-13601_163-1360 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | CTCTCT | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.163-13601_163-1360 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
C | T | 16 | a0001c0001t0001g0019a0001c0001t0001g0059a0001c0001t0001g0066others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.163-13600G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
CCT | C | 5 | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0070others(2): Show | 5 | HG00140.hp1 HG02145.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-13602_163-1360 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
CCTCT | C | 4 | a0001c0001t0001g0077a0001c0001t0001g0101a0001c0001t0001g0109others(1): Show | 4 | HG02074.hp1 HG03492.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-13604_163-1360 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
CCTCTCTC others(1): Show |
C | 1 | a0001c0001t0001g0149 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.163-13608_163-1360 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760041
|
CCTCTCTC others(3): Show |
C | 7 | a0001c0001t0001g0092a0001c0001t0001g0108a0001c0001t0001g0151others(4): Show | 7 | NA18612.hp1 NA18957.hp1 NA18982.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-13610_163-1360 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760041 | ||||||
| chrX:19760042
|
CTCT | C | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.163-13604_163-1360 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760042 | ||||||
| chrX:19760042
|
CTCTCT | C | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.163-13606_163-1360 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760042 | ||||||
| chrX:19760083
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.163-13642A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760083 | ||||||
| chrX:19760084
|
C | A | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.163-13643G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760084 | ||||||
| chrX:19760084
|
C | CTCTCGA | 3 | a0001c0001t0001g0052a0001c0001t0001g0105a0001c0001t0001g0122 | 3 | HG02922.hp2 NA18990.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.163-13644_163-1364 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760084 | ||||||
| chrX:19760084
|
C | CTCTCTCT others(5): Show |
2 | a0001c0003t0001g0049a0001c0003t0001g0051 | 2 | HG01106.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.163-13644_163-1364 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760084 | ||||||
| chrX:19760085
|
G | C | 6 | a0001c0001t0001g0005a0001c0001t0001g0052a0001c0001t0001g0105others(3): Show | 6 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-13644C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760085 | ||||||
| chrX:19760085
|
G | GAC | 1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.163-13646_163-1364 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760085 | ||||||
| chrX:19760101
|
C | CAA | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-13661_163-1366 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760101 | ||||||
| chrX:19760216
|
T | A | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.163-13775A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760216 | ||||||
| chrX:19760259
|
C | T | 36 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(33): Show |
intron_variant | MODIFIER | c.163-13818G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760259 | ||||||
| chrX:19760303
|
C | CA | 1 | a0001c0001t0001g0200 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.163-13863dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760303 | ||||||
| chrX:19760305
|
T | C | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.163-13864A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760305 | ||||||
| chrX:19760311
|
C | T | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-13870G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760311 | ||||||
| chrX:19760342
|
G | A | 7 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 7 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-13901C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760342 | ||||||
| chrX:19760387
|
A | AAAAT | 18 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(15): Show | 18 | HG01070.hp1 HG01106.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.163-13950_163-1394 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760387 | ||||||
| chrX:19760387
|
A | AAAATAAA others(1): Show |
2 | a0001c0001t0001g0022a0001c0001t0001g0050 | 2 | HG02630.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.163-13954_163-1394 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760387 | ||||||
| chrX:19760397
|
A | AATAC | 14 | a0001c0001t0001g0081a0001c0001t0001g0092a0001c0001t0001g0096others(11): Show | 14 | HG00140.hp1 HG02015.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-13960_163-1395 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760397 | ||||||
| chrX:19760397
|
A | AATACATA others(1): Show |
3 | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0119 | 3 | HG03654.hp1 HG03688.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.163-13964_163-1395 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760397 | ||||||
| chrX:19760397
|
AATAC | A | 27 | a0001c0001t0001g0012a0001c0001t0001g0065a0001c0001t0001g0070others(24): Show | 27 | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.163-13960_163-1395 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760397 | ||||||
| chrX:19760397
|
AATACATA others(1): Show |
A | 16 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0066others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.163-13964_163-1395 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760397 | ||||||
| chrX:19760401
|
C | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(61): Show | 64 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(61): Show |
intron_variant | MODIFIER | c.163-13960G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760401 | ||||||
| chrX:19760405
|
C | A | 41 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(38): Show | 41 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(38): Show |
intron_variant | MODIFIER | c.163-13964G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760405 | ||||||
| chrX:19760409
|
C | A | 15 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0175others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.163-13968G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760409 | ||||||
| chrX:19760413
|
C | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-13972G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760413 | ||||||
| chrX:19760546
|
C | G | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.163-14105G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760546 | ||||||
| chrX:19760907
|
GT | G | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-14467delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19760907 | ||||||
| chrX:19761163
|
A | AG | 1 | a0001c0001t0001g0133 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.163-14723dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761163 | ||||||
| chrX:19761175
|
A | AG | 1 | a0001c0001t0001g0120 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.163-14735dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761175 | ||||||
| chrX:19761203
|
AG | A | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-14763delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761203 | ||||||
| chrX:19761206
|
G | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.163-14765C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761206 | ||||||
| chrX:19761373
|
A | AG | 4 | a0001c0001t0001g0066a0001c0001t0001g0120a0001c0001t0001g0133others(1): Show | 4 | HG02293.hp1 HG04115.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-14933dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761373 | ||||||
| chrX:19761523
|
T | C | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.163-15082A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761523 | ||||||
| chrX:19761692
|
G | C | 21 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(18): Show | 21 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(18): Show |
intron_variant | MODIFIER | c.163-15251C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761692 | ||||||
| chrX:19761789
|
TG | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-15349delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761789 | ||||||
| chrX:19761841
|
A | G | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.163-15400T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761841 | ||||||
| chrX:19761877
|
T | C | 64 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 64 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(61): Show |
intron_variant | MODIFIER | c.163-15436A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761877 | ||||||
| chrX:19761948
|
G | GC | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-15508dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19761948 | ||||||
| chrX:19762058
|
CT | C | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-15618delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762058 | ||||||
| chrX:19762114
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.163-15673C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762114 | ||||||
| chrX:19762277
|
TG | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-15837delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762277 | ||||||
| chrX:19762380
|
T | A | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.163-15939A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762380 | ||||||
| chrX:19762424
|
AC | A | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-15984delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762424 | ||||||
| chrX:19762661
|
C | A | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.163-16220G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19762661 | ||||||
| chrX:19763215
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-16774C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763215 | ||||||
| chrX:19763415
|
T | TCACTAG | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-16975_163-1697 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763415 | ||||||
| chrX:19763417
|
T | TC | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-16977_163-1697 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763417 | ||||||
| chrX:19763419
|
C | CGTG | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-16979_163-1697 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763419 | ||||||
| chrX:19763425
|
GT | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-16985delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763425 | ||||||
| chrX:19763429
|
T | G | 1 | a0001c0003t0001g0049 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.163-16988A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763429 | ||||||
| chrX:19763495
|
CT | C | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17055delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763495 | ||||||
| chrX:19763529
|
TA | T | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17089delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763529 | ||||||
| chrX:19763539
|
GC | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17099delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763539 | ||||||
| chrX:19763544
|
TG | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.163-17104delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763544 | ||||||
| chrX:19763634
|
AT | A | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17194delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763634 | ||||||
| chrX:19763640
|
AT | A | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17200delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763640 | ||||||
| chrX:19763652
|
CA | C | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17212delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763652 | ||||||
| chrX:19763662
|
T | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17221A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763662 | ||||||
| chrX:19763687
|
G | GA | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17247dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763687 | ||||||
| chrX:19763741
|
GCC | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17302_163-1730 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763741 | ||||||
| chrX:19763752
|
TG | T | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17312delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763752 | ||||||
| chrX:19763756
|
T | G | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17315A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763756 | ||||||
| chrX:19763759
|
T | C | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.163-17318A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763759 | ||||||
| chrX:19763772
|
AG | A | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17332delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763772 | ||||||
| chrX:19763787
|
CA | C | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17347delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763787 | ||||||
| chrX:19763834
|
T | C | 1 | a0001c0001t0001g0138 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.163-17393A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763834 | ||||||
| chrX:19763945
|
G | A | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-17504C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19763945 | ||||||
| chrX:19764014
|
C | CA | 23 | a0001c0001t0001g0027a0001c0001t0001g0065a0001c0001t0001g0067others(20): Show | 23 | HG01346.hp1 HG01346.hp2 HG01952.hp1 others(20): Show |
intron_variant | MODIFIER | c.163-17574dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764014 | ||||||
| chrX:19764014
|
C | CAA | 3 | a0001c0001t0001g0050a0001c0002t0002g0202a0001c0003t0002g0039 | 3 | HG02486.hp1 HG02630.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.163-17575_163-1757 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764014 | ||||||
| chrX:19764014
|
CA | C | 24 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0040others(21): Show | 24 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.163-17574delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764014 | ||||||
| chrX:19764032
|
A | AT | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17592_163-1759 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764032 | ||||||
| chrX:19764126
|
CA | C | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163-17686delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764126 | ||||||
| chrX:19764476
|
A | G | 1 | a0001c0003t0002g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.163-18035T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764476 | ||||||
| chrX:19764814
|
C | CT | 2 | a0001c0001t0001g0120a0002c0004t0001g0143 | 2 | NA18989.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.163-18374dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764814 | ||||||
| chrX:19764814
|
CT | C | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.163-18374delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764814 | ||||||
| chrX:19764828
|
T | A | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.163-18387A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764828 | ||||||
| chrX:19764899
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.163-18458G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764899 | ||||||
| chrX:19764914
|
T | C | 1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.163-18473A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764914 | ||||||
| chrX:19764986
|
C | CT | 33 | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0044others(30): Show | 33 | HG00733.hp1 HG01123.hp2 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.163-18546dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19764986
|
C | CTT | 36 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0025others(33): Show | 36 | HG00609.hp1 HG00639.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.163-18547_163-1854 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19764986
|
C | CTTT | 15 | a0001c0001t0001g0029a0001c0001t0001g0040a0001c0001t0001g0042others(12): Show | 15 | HG01496.hp1 HG01884.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.163-18548_163-1854 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19764986
|
C | CTTTT | 5 | a0001c0001t0001g0059a0001c0001t0001g0165a0001c0001t0001g0169others(2): Show | 5 | HG01109.hp1 HG01123.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-18549_163-1854 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19764986
|
CT | C | 3 | a0001c0001t0001g0053a0001c0001t0001g0129a0001c0001t0001g0162 | 3 | HG01928.hp1 HG03041.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.163-18546delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19764986
|
CTTTT | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.163-18549_163-1854 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19764986 | ||||||
| chrX:19765024
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0013 | 2 | HG00733.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.163-18583G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765024 | ||||||
| chrX:19765078
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.163-18637G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765078 | ||||||
| chrX:19765295
|
G | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.163-18854C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765295 | ||||||
| chrX:19765527
|
T | C | 2 | a0001c0001t0001g0181a0001c0010t0001g0199 | 2 | HG01884.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.163-19086A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765527 | ||||||
| chrX:19765548
|
T | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.163-19107A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765548 | ||||||
| chrX:19765675
|
C | CA | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.163-19235dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765675 | ||||||
| chrX:19765874
|
G | A | 11 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(8): Show | 11 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.163-19433C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765874 | ||||||
| chrX:19765938
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-19497G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19765938 | ||||||
| chrX:19766219
|
G | A | 1 | a0001c0001t0001g0112 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.163-19778C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766219 | ||||||
| chrX:19766483
|
C | CT | 27 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0061others(24): Show | 27 | HG00733.hp2 HG00738.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163-20043dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTT | 9 | a0001c0001t0001g0005a0001c0001t0001g0079a0001c0001t0001g0087others(6): Show | 9 | HG02738.hp1 HG02886.hp1 HG03654.hp1 others(6): Show |
intron_variant | MODIFIER | c.163-20044_163-2004 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTT | 5 | a0001c0001t0001g0066a0001c0001t0001g0071a0001c0001t0001g0096others(2): Show | 5 | HG01891.hp2 HG02293.hp1 NA18953.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-20045_163-2004 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTT | 3 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0161 | 3 | HG02615.hp1 HG06807.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.163-20048_163-2004 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT | 1 | a0001c0001t0001g0122 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.163-20049_163-2004 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0001g0020 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.163-20050_163-2004 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(3): Show |
2 | a0001c0001t0001g0016a0001c0001t0001g0078 | 2 | HG02965.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.163-20052_163-2004 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(4): Show |
1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.163-20053_163-2004 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(5): Show |
1 | a0001c0001t0001g0014 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.163-20054_163-2004 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0017 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163-20055_163-2004 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0021 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.163-20056_163-2004 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CT | C | 30 | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0047others(27): Show | 30 | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.163-20043delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTT | C | 21 | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0034others(18): Show | 21 | HG01123.hp1 HG01167.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.163-20044_163-2004 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTT | C | 16 | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0001g0035others(13): Show | 16 | HG01070.hp1 HG01975.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.163-20045_163-2004 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTT | C | 5 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0002t0002g0188others(2): Show | 5 | HG02630.hp1 HG03041.hp2 NA19091.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-20046_163-2004 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTT | C | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.163-20047_163-2004 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTT | C | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.163-20048_163-2004 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.163-20049_163-2004 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(3): Show |
C | 3 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0010t0001g0199 | 3 | HG01496.hp1 HG01884.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-20052_163-2004 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(4): Show |
C | 7 | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0059others(4): Show | 7 | HG01071.hp2 HG01109.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.163-20053_163-2004 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(5): Show |
C | 6 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(3): Show | 6 | HG01070.hp2 HG01891.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-20054_163-2004 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(6): Show |
C | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.163-20055_163-2004 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0011g0045 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.163-20057_163-2004 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163-20058_163-2004 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766483
|
CTTTTTTT others(14): Show |
C | 5 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(2): Show | 5 | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.163-20063_163-2004 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766483 | ||||||
| chrX:19766544
|
G | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.163-20103C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766544 | ||||||
| chrX:19766784
|
C | G | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.163-20343G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19766784 | ||||||
| chrX:19767067
|
T | A | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.163-20626A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767067 | ||||||
| chrX:19767073
|
A | G | 32 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.163-20632T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767073 | ||||||
| chrX:19767178
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-20737A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767178 | ||||||
| chrX:19767213
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.163-20772A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767213 | ||||||
| chrX:19767264
|
G | T | 32 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.163-20823C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767264 | ||||||
| chrX:19767773
|
T | C | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.163-21332A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19767773 | ||||||
| chrX:19768148
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.163-21707C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768148 | ||||||
| chrX:19768323
|
G | GA | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163-21883dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768323 | ||||||
| chrX:19768398
|
T | C | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-21957A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768398 | ||||||
| chrX:19768524
|
A | G | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-22083T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768524 | ||||||
| chrX:19768695
|
C | T | 5 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 5 | HG00733.hp1 HG02055.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.163-22254G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768695 | ||||||
| chrX:19768771
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.163-22330A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768771 | ||||||
| chrX:19768806
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.163-22365A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768806 | ||||||
| chrX:19768930
|
G | GT | 32 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(29): Show |
intron_variant | MODIFIER | c.163-22490dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19768930 | ||||||
| chrX:19769009
|
T | C | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.163-22568A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769009 | ||||||
| chrX:19769075
|
A | AT | 19 | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0050others(16): Show | 19 | HG00639.hp1 HG01106.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.163-22635dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769075 | ||||||
| chrX:19769075
|
A | ATT | 10 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(7): Show | 10 | HG00733.hp1 HG02055.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.163-22636_163-2263 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769075 | ||||||
| chrX:19769075
|
A | ATTT | 7 | a0001c0001t0001g0008a0001c0002t0001g0179a0001c0002t0002g0178others(4): Show | 7 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-22637_163-2263 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769075 | ||||||
| chrX:19769075
|
A | ATTTT | 1 | a0001c0003t0002g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.163-22638_163-2263 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769075 | ||||||
| chrX:19769075
|
AT | A | 51 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(48): Show | 51 | HG00609.hp1 HG00639.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.163-22635delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769075 | ||||||
| chrX:19769274
|
CT | C | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(75): Show |
intron_variant | MODIFIER | c.163-22834delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769274 | ||||||
| chrX:19769284
|
C | A | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.163-22843G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769284 | ||||||
| chrX:19769532
|
T | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-23091A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19769532 | ||||||
| chrX:19770467
|
T | C | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-24026A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770467 | ||||||
| chrX:19770470
|
T | C | 54 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(51): Show | 54 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.163-24029A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770470 | ||||||
| chrX:19770545
|
C | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(1): Show | 4 | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-24104G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770545 | ||||||
| chrX:19770705
|
A | AT | 6 | a0001c0001t0001g0022a0001c0001t0001g0055a0001c0001t0001g0082others(3): Show | 6 | HG01496.hp2 HG01975.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-24265dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770705 | ||||||
| chrX:19770705
|
AT | A | 9 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0147others(6): Show | 9 | HG02698.hp1 HG02738.hp1 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-24265delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770705 | ||||||
| chrX:19770705
|
ATTTT | A | 1 | a0001c0001t0001g0137 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.163-24268_163-2426 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770705 | ||||||
| chrX:19770765
|
C | T | 31 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0165others(28): Show | 31 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.163-24324G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770765 | ||||||
| chrX:19770799
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.163-24358G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19770799 | ||||||
| chrX:19771051
|
G | A | 4 | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0093others(1): Show | 4 | HG02257.hp1 NA19043.hp1 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-24610C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771051 | ||||||
| chrX:19771495
|
G | C | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.163-25054C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771495 | ||||||
| chrX:19771684
|
T | C | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.163-25243A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771684 | ||||||
| chrX:19771719
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.163-25278G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771719 | ||||||
| chrX:19771819
|
C | G | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(200): Show |
intron_variant | MODIFIER | c.163-25378G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771819 | ||||||
| chrX:19771864
|
C | CA | 171 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(168): Show | 171 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(168): Show |
intron_variant | MODIFIER | c.163-25424dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771864 | ||||||
| chrX:19771864
|
C | CAA | 19 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0076others(16): Show | 19 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.163-25425_163-2542 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771864 | ||||||
| chrX:19771864
|
CA | C | 1 | a0001c0003t0001g0049 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.163-25424delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771864 | ||||||
| chrX:19771924
|
C | CA | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-25484dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771924 | ||||||
| chrX:19771924
|
CA | C | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-25484delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19771924 | ||||||
| chrX:19772006
|
C | T | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(200): Show |
intron_variant | MODIFIER | c.163-25565G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772006 | ||||||
| chrX:19772013
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.163-25572G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772013 | ||||||
| chrX:19772078
|
C | T | 1 | a0001c0001t0001g0116 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.163-25637G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772078 | ||||||
| chrX:19772088
|
G | GA | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.163-25648dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772088 | ||||||
| chrX:19772114
|
T | TA | 1 | a0004c0008t0001g0030 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.163-25674dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772114 | ||||||
| chrX:19772218
|
G | GT | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-25778dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772218 | ||||||
| chrX:19772235
|
T | G | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.163-25794A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772235 | ||||||
| chrX:19772404
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-25963C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772404 | ||||||
| chrX:19772414
|
A | T | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-25973T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772414 | ||||||
| chrX:19772484
|
T | G | 1 | a0001c0001t0001g0043 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.163-26043A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772484 | ||||||
| chrX:19772621
|
A | G | 3 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003 | 3 | HG01891.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.163-26180T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772621 | ||||||
| chrX:19772750
|
G | A | 1 | a0001c0001t0001g0033 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.163-26309C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772750 | ||||||
| chrX:19772827
|
C | G | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.163-26386G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772827 | ||||||
| chrX:19772962
|
G | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.163-26521C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19772962 | ||||||
| chrX:19773062
|
C | A | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.163-26621G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773062 | ||||||
| chrX:19773119
|
T | G | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.163-26678A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773119 | ||||||
| chrX:19773309
|
T | C | 50 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(47): Show | 50 | HG00609.hp1 HG00639.hp2 HG01070.hp2 others(47): Show |
intron_variant | MODIFIER | c.163-26868A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773309 | ||||||
| chrX:19773494
|
A | AAC | 4 | a0001c0001t0001g0005a0001c0001t0001g0069a0001c0001t0001g0111others(1): Show | 4 | HG01258.hp1 HG01261.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-27055_163-2705 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773494 | ||||||
| chrX:19773494
|
A | AACAC | 3 | a0001c0001t0001g0050a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01070.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.163-27057_163-2705 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773494 | ||||||
| chrX:19773494
|
AAC | A | 22 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(19): Show | 22 | HG00639.hp1 HG00733.hp1 HG01070.hp2 others(19): Show |
intron_variant | MODIFIER | c.163-27055_163-2705 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773494 | ||||||
| chrX:19773494
|
AACAC | A | 36 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(33): Show |
intron_variant | MODIFIER | c.163-27057_163-2705 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773494 | ||||||
| chrX:19773494
|
AACACAC | A | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-27059_163-2705 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773494 | ||||||
| chrX:19773549
|
A | AC | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163-27109dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773549 | ||||||
| chrX:19773581
|
G | C | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-27140C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773581 | ||||||
| chrX:19773706
|
A | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-27265T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773706 | ||||||
| chrX:19773748
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-27307A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773748 | ||||||
| chrX:19773761
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-27320G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773761 | ||||||
| chrX:19773762
|
A | G | 1 | a0001c0001t0001g0084 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.163-27321T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773762 | ||||||
| chrX:19773855
|
C | CG | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.163-27415dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773855 | ||||||
| chrX:19773856
|
G | GA | 42 | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0029others(39): Show | 42 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.163-27416dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
G | GAA | 2 | a0001c0001t0001g0017a0001c0001t0001g0056 | 2 | HG02818.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.163-27417_163-2741 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
GA | G | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(16): Show | 19 | HG00733.hp1 HG01884.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.163-27416delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
GAA | G | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0114others(9): Show | 12 | HG01071.hp2 HG01109.hp1 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.163-27417_163-2741 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
GAAA | G | 1 | a0001c0001t0001g0197 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.163-27418_163-2741 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
GAAAAAAA others(5): Show |
G | 1 | a0001c0001t0001g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.163-27427_163-2741 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773856
|
GAAAAAAA others(6): Show |
G | 4 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(1): Show | 4 | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-27428_163-2741 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773856 | ||||||
| chrX:19773857
|
A | G | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.163-27416T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19773857 | ||||||
| chrX:19774063
|
A | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.163-27622T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774063 | ||||||
| chrX:19774177
|
C | CT | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163-27737dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774177 | ||||||
| chrX:19774312
|
A | G | 202 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(199): Show | 202 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(199): Show |
intron_variant | MODIFIER | c.163-27871T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774312 | ||||||
| chrX:19774412
|
C | A | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.163-27971G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774412 | ||||||
| chrX:19774491
|
G | A | 1 | a0001c0001t0001g0139 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.163-28050C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774491 | ||||||
| chrX:19774544
|
G | A | 2 | a0001c0001t0001g0033a0004c0008t0001g0030 | 2 | NA18979.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.163-28103C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774544 | ||||||
| chrX:19774652
|
AAAAAAG | A | 1 | a0001c0001t0001g0061 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.163-28217_163-2821 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774652 | ||||||
| chrX:19774654
|
A | AAAAAG | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAAG | 34 | a0001c0001t0001g0020a0001c0001t0001g0050a0001c0001t0001g0064others(31): Show | 34 | HG00140.hp1 HG00642.hp1 HG01496.hp2 others(31): Show |
intron_variant | MODIFIER | c.163-28217_163-2821 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAAGAAA others(1): Show |
11 | a0001c0001t0001g0008a0001c0001t0001g0052a0001c0001t0001g0070others(8): Show | 11 | HG01891.hp2 HG02135.hp1 HG02735.hp1 others(8): Show |
intron_variant | MODIFIER | c.163-28221_163-2821 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAAGAAA others(5): Show |
4 | a0001c0001t0001g0006a0001c0001t0001g0065a0001c0001t0001g0073others(1): Show | 4 | HG01106.hp1 HG01123.hp2 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-28225_163-2821 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAAGAAA others(9): Show |
1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.163-28229_163-2821 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAGAAAG | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAAGAAAG others(8): Show |
1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAG | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAGAAAG | 1 | a0001c0001t0001g0174 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AAGAAG | 1 | a0001c0001t0001g0122 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AGAAAG | 5 | a0001c0001t0001g0074a0001c0001t0001g0088a0001c0001t0001g0125others(2): Show | 5 | HG01099.hp1 HG03942.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-28214_163-2821 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
A | AGAAAGAA others(2): Show |
1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163-28214_163-2821 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAG | A | 15 | a0001c0001t0001g0012a0001c0001t0001g0022a0001c0001t0001g0053others(12): Show | 15 | HG00639.hp1 HG01074.hp1 HG01433.hp1 others(12): Show |
intron_variant | MODIFIER | c.163-28217_163-2821 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(1): Show |
A | 14 | a0001c0001t0001g0005a0001c0001t0001g0060a0001c0001t0001g0062others(11): Show | 14 | HG00280.hp1 HG00621.hp1 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-28221_163-2821 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(5): Show |
A | 10 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(7): Show | 10 | HG00733.hp1 HG01256.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.163-28225_163-2821 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(9): Show |
A | 7 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0021others(4): Show | 7 | HG02809.hp1 HG02965.hp1 HG03579.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-28229_163-2821 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(13): Show |
A | 5 | a0001c0001t0001g0104a0001c0001t0001g0108a0001c0001t0001g0110others(2): Show | 5 | HG00673.hp1 HG03486.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-28233_163-2821 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(17): Show |
A | 6 | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0112others(3): Show | 6 | HG00639.hp2 HG01496.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-28237_163-2821 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(21): Show |
A | 13 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(10): Show | 13 | HG02486.hp1 HG02559.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.163-28241_163-2821 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774654
|
AAAAGAAA others(25): Show |
A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.163-28245_163-2821 others(36): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774654 | ||||||
| chrX:19774655
|
AAAGAAAG others(16): Show |
A | 27 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(24): Show | 27 | HG01123.hp1 HG01167.hp1 HG01192.hp1 others(24): Show |
intron_variant | MODIFIER | c.163-28237_163-2821 others(27): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774655 | ||||||
| chrX:19774655
|
AAAGAAAG others(20): Show |
A | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.163-28241_163-2821 others(31): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774655 | ||||||
| chrX:19774655
|
AAAGAAAG others(24): Show |
A | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.163-28245_163-2821 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774655 | ||||||
| chrX:19774682
|
G | A | 30 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(27): Show | 30 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.163-28241C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774682 | ||||||
| chrX:19774686
|
G | A | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.163-28245C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774686 | ||||||
| chrX:19774690
|
G | A | 15 | a0001c0001t0001g0018a0001c0001t0001g0046a0001c0001t0001g0047others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.163-28249C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774690 | ||||||
| chrX:19774714
|
A | AAG | 1 | a0001c0001t0002g0003 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.163-28274_163-2827 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774714 | ||||||
| chrX:19774901
|
T | C | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-28460A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19774901 | ||||||
| chrX:19775043
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-28602G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19775043 | ||||||
| chrX:19775203
|
T | C | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(76): Show |
intron_variant | MODIFIER | c.163-28762A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19775203 | ||||||
| chrX:19775211
|
A | G | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(76): Show |
intron_variant | MODIFIER | c.163-28770T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19775211 | ||||||
| chrX:19775283
|
C | T | 2 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.163-28842G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19775283 | ||||||
| chrX:19776132
|
G | T | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.163-29691C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776132 | ||||||
| chrX:19776157
|
A | C | 3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.163-29716T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776157 | ||||||
| chrX:19776380
|
CA | C | 1 | a0001c0001t0001g0002 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.163-29940delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776380 | ||||||
| chrX:19776532
|
G | GT | 7 | a0001c0001t0001g0067a0001c0001t0001g0085a0001c0001t0001g0120others(4): Show | 7 | HG01517.hp1 HG02257.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-30092dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTGT | 2 | a0001c0001t0001g0175a0001c0010t0001g0199 | 2 | HG01884.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.163-30092_163-3009 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTGT others(1): Show |
1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.163-30092_163-3009 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTGT others(2): Show |
1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.163-30092_163-3009 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTTT others(1): Show |
7 | a0001c0001t0001g0025a0001c0001t0001g0033a0001c0001t0001g0037others(4): Show | 7 | HG00639.hp2 HG01975.hp1 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-30099_163-3009 others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTTT others(2): Show |
21 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0027others(18): Show | 21 | HG00609.hp1 HG01123.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.163-30100_163-3009 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTTT others(3): Show |
10 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0031others(7): Show | 10 | HG01167.hp1 HG01192.hp1 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.163-30101_163-3009 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
G | GTTTTTTT others(4): Show |
3 | a0001c0001t0001g0029a0001c0001t0001g0046a0001c0009t0002g0009 | 3 | HG01070.hp1 HG02897.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.163-30102_163-3009 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
GT | G | 82 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(79): Show | 82 | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(79): Show |
intron_variant | MODIFIER | c.163-30092delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
GTT | G | 26 | a0001c0001t0001g0018a0001c0001t0001g0052a0001c0001t0001g0059others(23): Show | 26 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.163-30093_163-3009 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776532
|
GTTT | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.163-30094_163-3009 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776532 | ||||||
| chrX:19776545
|
T | G | 1 | a0001c0001t0001g0184 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.163-30104A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776545 | ||||||
| chrX:19776590
|
A | G | 61 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(58): Show | 61 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.163-30149T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776590 | ||||||
| chrX:19776929
|
CCT | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-30490_163-3048 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19776929 | ||||||
| chrX:19777116
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.163-30675T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777116 | ||||||
| chrX:19777629
|
AC | A | 9 | a0001c0001t0001g0018a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-31189delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777629 | ||||||
| chrX:19777646
|
C | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-31205G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777646 | ||||||
| chrX:19777647
|
G | A | 6 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00733.hp1 HG02818.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-31206C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777647 | ||||||
| chrX:19777697
|
T | C | 81 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(78): Show | 81 | HG00609.hp1 HG00639.hp2 HG00733.hp1 others(78): Show |
intron_variant | MODIFIER | c.163-31256A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777697 | ||||||
| chrX:19777716
|
A | G | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-31275T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19777716 | ||||||
| chrX:19778008
|
G | A | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.163-31567C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778008 | ||||||
| chrX:19778299
|
C | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.163-31858G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778299 | ||||||
| chrX:19778417
|
C | A | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG00733.hp2 HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.163-31976G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778417 | ||||||
| chrX:19778423
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.163-31982A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778423 | ||||||
| chrX:19778430
|
C | CA | 46 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(43): Show | 46 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.163-31990dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778430 | ||||||
| chrX:19778430
|
C | CAA | 2 | a0001c0001t0011g0045a0001c0010t0001g0199 | 2 | HG01884.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.163-31991_163-3199 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778430 | ||||||
| chrX:19778430
|
CA | C | 6 | a0001c0001t0001g0060a0001c0001t0001g0071a0001c0001t0001g0126others(3): Show | 6 | HG01069.hp1 HG04115.hp1 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-31990delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778430 | ||||||
| chrX:19778531
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163-32090G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19778531 | ||||||
| chrX:19779088
|
G | A | 1 | a0001c0001t0001g0064 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.163-32647C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779088 | ||||||
| chrX:19779298
|
CA | C | 3 | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0154 | 3 | HG01515.hp1 NA19056.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.163-32858delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779298 | ||||||
| chrX:19779393
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.163-32952A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779393 | ||||||
| chrX:19779471
|
C | T | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-33030G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779471 | ||||||
| chrX:19779521
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.163-33080G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779521 | ||||||
| chrX:19779534
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.163-33093C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779534 | ||||||
| chrX:19779571
|
T | TC | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.163-33131dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779571 | ||||||
| chrX:19779576
|
C | G | 1 | a0001c0001t0001g0082 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.163-33135G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779576 | ||||||
| chrX:19779578
|
T | TC | 1 | a0001c0001t0001g0017 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163-33138dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779578 | ||||||
| chrX:19779596
|
G | C | 33 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(30): Show | 33 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.163-33155C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779596 | ||||||
| chrX:19779890
|
G | A | 1 | a0001c0001t0001g0201 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.163-33449C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19779890 | ||||||
| chrX:19780127
|
T | G | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.163-33686A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780127 | ||||||
| chrX:19780194
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.163-33753T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780194 | ||||||
| chrX:19780220
|
T | G | 4 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(1): Show | 4 | HG02818.hp2 HG02922.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-33779A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780220 | ||||||
| chrX:19780268
|
C | T | 4 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(1): Show | 4 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-33827G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780268 | ||||||
| chrX:19780641
|
C | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-34200G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780641 | ||||||
| chrX:19780655
|
C | T | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(200): Show |
intron_variant | MODIFIER | c.163-34214G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780655 | ||||||
| chrX:19780765
|
G | A | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.163-34324C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780765 | ||||||
| chrX:19780801
|
A | G | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.163-34360T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780801 | ||||||
| chrX:19780867
|
A | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-34426T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19780867 | ||||||
| chrX:19781139
|
C | T | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-34698G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781139 | ||||||
| chrX:19781192
|
T | C | 2 | a0001c0001t0001g0126a0001c0001t0007g0127 | 2 | NA18986.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.163-34751A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781192 | ||||||
| chrX:19781220
|
T | C | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.163-34779A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781220 | ||||||
| chrX:19781420
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(5): Show | 8 | HG00733.hp1 HG01106.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.163-34979G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781420 | ||||||
| chrX:19781617
|
C | CA | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-35177dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781617 | ||||||
| chrX:19781617
|
CA | C | 1 | a0001c0001t0001g0125 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.163-35177delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19781617 | ||||||
| chrX:19782223
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163-35782C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782223 | ||||||
| chrX:19782245
|
C | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.163-35804G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782245 | ||||||
| chrX:19782296
|
T | C | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.163-35855A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782296 | ||||||
| chrX:19782547
|
C | T | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.163-36106G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782547 | ||||||
| chrX:19782690
|
T | G | 45 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(42): Show | 45 | HG00609.hp1 HG00639.hp2 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.163-36249A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782690 | ||||||
| chrX:19782781
|
A | AC | 1 | a0001c0001t0001g0120 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.163-36341dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782781 | ||||||
| chrX:19782946
|
G | GA | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-36506dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782946 | ||||||
| chrX:19782955
|
C | A | 51 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(48): Show | 51 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.163-36514G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19782955 | ||||||
| chrX:19783091
|
G | A | 17 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0175others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.163-36650C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19783091 | ||||||
| chrX:19783186
|
G | A | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.163-36745C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19783186 | ||||||
| chrX:19783485
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.163-37044A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19783485 | ||||||
| chrX:19783705
|
G | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.163-37264C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19783705 | ||||||
| chrX:19783750
|
A | G | 1 | a0001c0001t0001g0132 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.163-37309T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19783750 | ||||||
| chrX:19784898
|
C | T | 1 | a0001c0001t0004g0032 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.163-38457G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19784898 | ||||||
| chrX:19784975
|
TG | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38535delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19784975 | ||||||
| chrX:19785016
|
GC | G | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38576delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785016 | ||||||
| chrX:19785024
|
TA | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38584delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785024 | ||||||
| chrX:19785067
|
T | TG | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38627dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785067 | ||||||
| chrX:19785251
|
TG | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38811delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785251 | ||||||
| chrX:19785256
|
TA | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38816delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785256 | ||||||
| chrX:19785292
|
C | CG | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38852dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785292 | ||||||
| chrX:19785292
|
C | T | 2 | a0001c0001t0001g0142a0001c0001t0001g0144 | 2 | HG00639.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.163-38851G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785292 | ||||||
| chrX:19785363
|
C | CA | 25 | a0001c0001t0001g0052a0001c0001t0001g0091a0001c0001t0001g0131others(22): Show | 25 | HG01106.hp1 HG01891.hp2 HG02451.hp2 others(22): Show |
intron_variant | MODIFIER | c.163-38923dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785363 | ||||||
| chrX:19785363
|
CA | C | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(1): Show | 4 | HG00733.hp1 HG03041.hp2 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-38923delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785363 | ||||||
| chrX:19785409
|
TC | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-38969delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785409 | ||||||
| chrX:19785433
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.163-38992A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785433 | ||||||
| chrX:19785475
|
C | T | 4 | a0001c0001t0001g0194a0001c0001t0001g0197a0001c0001t0001g0198others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-39034G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785475 | ||||||
| chrX:19785581
|
A | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-39140T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785581 | ||||||
| chrX:19785704
|
AAC | A | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-39265_163-3926 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785704 | ||||||
| chrX:19785736
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.163-39295A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785736 | ||||||
| chrX:19785925
|
G | A | 4 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-39484C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785925 | ||||||
| chrX:19785948
|
T | C | 3 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170 | 3 | HG03209.hp1 HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.163-39507A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19785948 | ||||||
| chrX:19786060
|
A | T | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.163-39619T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786060 | ||||||
| chrX:19786287
|
G | A | 1 | a0003c0005t0001g0157 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.163-39846C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786287 | ||||||
| chrX:19786727
|
T | C | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.163-40286A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786727 | ||||||
| chrX:19786810
|
C | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.163-40369G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786810 | ||||||
| chrX:19786834
|
T | TC | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-40394dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786834 | ||||||
| chrX:19786841
|
C | T | 8 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.163-40400G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19786841 | ||||||
| chrX:19787079
|
C | T | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG01934.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-40638G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787079 | ||||||
| chrX:19787092
|
TG | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-40652delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787092 | ||||||
| chrX:19787300
|
G | A | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.163-40859C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787300 | ||||||
| chrX:19787463
|
G | A | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.163-41022C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787463 | ||||||
| chrX:19787523
|
G | A | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.163-41082C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787523 | ||||||
| chrX:19787537
|
T | C | 1 | a0001c0001t0001g0169 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.163-41096A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787537 | ||||||
| chrX:19787604
|
C | A | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.163-41163G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787604 | ||||||
| chrX:19787604
|
C | CA | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-41164dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787604 | ||||||
| chrX:19787631
|
A | G | 78 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.163-41190T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787631 | ||||||
| chrX:19787650
|
A | T | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-41209T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787650 | ||||||
| chrX:19787702
|
CA | C | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-41262delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787702 | ||||||
| chrX:19787738
|
A | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.163-41297T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787738 | ||||||
| chrX:19787750
|
A | AT | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163-41310dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19787750 | ||||||
| chrX:19788269
|
C | CA | 8 | a0001c0001t0001g0005a0001c0001t0001g0052a0001c0001t0001g0077others(5): Show | 8 | HG01346.hp2 HG02055.hp1 HG02083.hp1 others(5): Show |
intron_variant | MODIFIER | c.163-41829dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788269
|
C | CAAA | 2 | a0001c0001t0001g0037a0001c0001t0001g0041 | 2 | HG02809.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.163-41831_163-4182 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788269
|
C | CAAAA | 7 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0040others(4): Show | 7 | HG01243.hp1 HG01884.hp1 HG01975.hp1 others(4): Show |
intron_variant | MODIFIER | c.163-41832_163-4182 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788269
|
C | CAAAAA | 4 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0181others(1): Show | 4 | HG02293.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-41833_163-4182 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788269
|
C | CAAAAAA | 3 | a0001c0001t0001g0036a0001c0001t0001g0047a0001c0003t0013g0068 | 3 | HG02717.hp1 HG02895.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.163-41834_163-4182 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788269
|
C | CAAAAAAA | 1 | a0001c0001t0001g0046 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.163-41835_163-4182 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788269 | ||||||
| chrX:19788275
|
AAAAAAAA others(4): Show |
A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.163-41845_163-4183 others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788275 | ||||||
| chrX:19788280
|
AAAAAAC | A | 5 | a0001c0001t0001g0033a0001c0001t0001g0043a0001c0001t0001g0044others(2): Show | 5 | HG03239.hp2 NA18957.hp2 NA18979.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-41845_163-4184 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788280 | ||||||
| chrX:19788281
|
AAAAAC | A | 6 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | HG00639.hp2 HG01192.hp1 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-41845_163-4184 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788281 | ||||||
| chrX:19788282
|
AAAAC | A | 3 | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0008g0023 | 3 | HG01123.hp1 HG01167.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.163-41845_163-4184 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788282 | ||||||
| chrX:19788284
|
A | AC | 21 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(18): Show | 21 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.163-41844_163-4184 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788284 | ||||||
| chrX:19788285
|
A | C | 8 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(5): Show | 8 | HG01496.hp1 HG02451.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.163-41844T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788285 | ||||||
| chrX:19788286
|
C | A | 46 | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0035others(43): Show | 46 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(43): Show |
intron_variant | MODIFIER | c.163-41845G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788286 | ||||||
| chrX:19788286
|
C | CA | 1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.163-41846dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788286 | ||||||
| chrX:19788286
|
C | CAA | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.163-41847_163-4184 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788286 | ||||||
| chrX:19788286
|
CA | C | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.163-41846delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788286 | ||||||
| chrX:19788288
|
A | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-41847T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788288 | ||||||
| chrX:19788321
|
C | A | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-41880G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788321 | ||||||
| chrX:19788633
|
T | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.163-42192A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788633 | ||||||
| chrX:19788718
|
A | G | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.163-42277T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788718 | ||||||
| chrX:19788797
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.163-42356A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788797 | ||||||
| chrX:19788962
|
G | A | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.163-42521C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19788962 | ||||||
| chrX:19789067
|
T | C | 4 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(1): Show | 4 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.163-42626A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19789067 | ||||||
| chrX:19789339
|
T | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-42898A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19789339 | ||||||
| chrX:19789481
|
T | A | 49 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(46): Show | 49 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.163-43040A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19789481 | ||||||
| chrX:19789485
|
T | C | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.163-43044A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19789485 | ||||||
| chrX:19789813
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.163-43372C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19789813 | ||||||
| chrX:19790000
|
C | T | 10 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(7): Show | 10 | HG01891.hp2 HG02258.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.163-43559G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790000 | ||||||
| chrX:19790044
|
A | G | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.163-43603T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790044 | ||||||
| chrX:19790114
|
C | CA | 2 | a0001c0003t0002g0039a0002c0004t0001g0143 | 2 | HG02486.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.163-43674dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790114 | ||||||
| chrX:19790114
|
CA | C | 10 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0012others(7): Show | 10 | HG00733.hp1 HG01070.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.163-43674delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790114 | ||||||
| chrX:19790422
|
G | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.163-43981C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790422 | ||||||
| chrX:19790559
|
T | C | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.163-44118A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19790559 | ||||||
| chrX:19791200
|
C | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.163-44759G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19791200 | ||||||
| chrX:19791273
|
A | AC | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.163-44833dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19791273 | ||||||
| chrX:19791292
|
C | CA | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.162+44832dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19791292 | ||||||
| chrX:19791536
|
G | GA | 60 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(57): Show | 60 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.162+44588dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19791536 | ||||||
| chrX:19791536
|
G | GAA | 6 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(3): Show | 6 | HG02257.hp2 HG02809.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.162+44587_162+4458 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19791536 | ||||||
| chrX:19792079
|
G | A | 28 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(25): Show | 28 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.162+44046C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19792079 | ||||||
| chrX:19792712
|
A | C | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.162+43413T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19792712 | ||||||
| chrX:19792902
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.162+43223C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19792902 | ||||||
| chrX:19793174
|
T | A | 4 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0003t0013g0068others(1): Show | 4 | HG01884.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+42951A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793174 | ||||||
| chrX:19793305
|
G | GA | 5 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0053others(2): Show | 5 | HG01975.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+42819dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
G | GAA | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.162+42818_162+4281 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
G | GAAA | 2 | a0001c0003t0013g0068a0001c0010t0001g0199 | 2 | HG01884.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.162+42817_162+4281 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
G | GAAAA | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.162+42816_162+4281 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
G | GAAAAAA | 2 | a0001c0001t0001g0181a0001c0006t0001g0054 | 2 | HG02886.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.162+42814_162+4281 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
GA | G | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+42819delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793305
|
GAA | G | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.162+42818_162+4281 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793305 | ||||||
| chrX:19793311
|
A | AAT | 1 | a0001c0001t0001g0122 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.162+42813_162+4281 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793311 | ||||||
| chrX:19793311
|
A | AATAT | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.162+42813_162+4281 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793311 | ||||||
| chrX:19793313
|
A | AAAAAAAT | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.162+42811_162+4281 others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AAAAAATA others(7): Show |
2 | a0001c0001t0001g0165a0001c0001t0001g0170 | 2 | HG02572.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.162+42811_162+4281 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AAAAT | 2 | a0001c0001t0001g0129a0001c0001t0001g0163 | 2 | NA18944.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.162+42811_162+4281 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AAAATATA others(5): Show |
3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02559.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.162+42811_162+4281 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AAAATATA others(7): Show |
1 | a0005c0007t0001g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.162+42811_162+4281 others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AAT | 4 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038others(1): Show | 4 | HG01243.hp1 HG02622.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+42810_162+4281 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AATATAT | 1 | a0003c0005t0001g0157 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.162+42806_162+4281 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | AT | 4 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(1): Show | 4 | HG02257.hp2 HG02809.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+42811_162+4281 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
A | T | 3 | a0001c0001t0001g0106a0001c0001t0001g0122a0001c0001t0001g0183 | 3 | HG01255.hp1 HG01496.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.162+42812T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793313
|
AAT | A | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.162+42810_162+4281 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793313 | ||||||
| chrX:19793314
|
AT | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(5): Show | 8 | HG00733.hp1 HG01106.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+42810delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793314 | ||||||
| chrX:19793315
|
T | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0024others(42): Show | 45 | HG00639.hp2 HG00738.hp1 HG01123.hp1 others(42): Show |
intron_variant | MODIFIER | c.162+42810A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793315 | ||||||
| chrX:19793317
|
T | A | 14 | a0001c0001t0001g0005a0001c0001t0001g0050a0001c0001t0001g0059others(11): Show | 14 | HG01109.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+42808A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793317 | ||||||
| chrX:19793319
|
T | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.162+42806A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793319 | ||||||
| chrX:19793624
|
G | C | 64 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(61): Show | 64 | HG00639.hp2 HG01070.hp1 HG01070.hp2 others(61): Show |
intron_variant | MODIFIER | c.162+42501C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793624 | ||||||
| chrX:19793979
|
A | G | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.162+42146T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19793979 | ||||||
| chrX:19794230
|
C | CA | 31 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0022others(28): Show | 31 | HG01123.hp2 HG01358.hp1 HG01496.hp2 others(28): Show |
intron_variant | MODIFIER | c.162+41894dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794230
|
C | CAA | 4 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0162others(1): Show | 4 | HG00733.hp1 HG01106.hp1 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+41893_162+4189 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794230
|
C | CAAAA | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.162+41891_162+4189 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794230
|
CAAAA | C | 2 | a0001c0001t0001g0059a0001c0001t0003g0057 | 2 | HG01109.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.162+41891_162+4189 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794230
|
CAAAAA | C | 16 | a0001c0001t0001g0018a0001c0001t0001g0175a0001c0001t0001g0181others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01496.hp1 others(13): Show |
intron_variant | MODIFIER | c.162+41890_162+4189 others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794230
|
CAAAAAA | C | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+41889_162+4189 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794230 | ||||||
| chrX:19794411
|
A | G | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.162+41714T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794411 | ||||||
| chrX:19794475
|
G | A | 17 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 17 | HG00733.hp1 HG01106.hp1 HG02486.hp1 others(14): Show |
intron_variant | MODIFIER | c.162+41650C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794475 | ||||||
| chrX:19794600
|
G | A | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.162+41525C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794600 | ||||||
| chrX:19794681
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(5): Show | 8 | HG00733.hp1 HG01106.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.162+41444G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794681 | ||||||
| chrX:19794746
|
C | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.162+41379G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19794746 | ||||||
| chrX:19795097
|
G | C | 30 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(27): Show | 30 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.162+41028C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19795097 | ||||||
| chrX:19795272
|
T | C | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+40853A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19795272 | ||||||
| chrX:19795376
|
C | T | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.162+40749G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19795376 | ||||||
| chrX:19795939
|
A | G | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.162+40186T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19795939 | ||||||
| chrX:19796160
|
GT | G | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.162+39964delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796160 | ||||||
| chrX:19796191
|
G | GC | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.162+39933dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796191 | ||||||
| chrX:19796234
|
T | TG | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.162+39890dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796234 | ||||||
| chrX:19796270
|
G | A | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045 | 3 | HG02293.hp2 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.162+39855C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796270 | ||||||
| chrX:19796618
|
C | T | 12 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.162+39507G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796618 | ||||||
| chrX:19796796
|
G | C | 10 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 10 | HG00733.hp1 HG02055.hp1 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.162+39329C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796796 | ||||||
| chrX:19796804
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.162+39321G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796804 | ||||||
| chrX:19796867
|
A | G | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.162+39258T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19796867 | ||||||
| chrX:19797073
|
GAC | G | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.162+39050_162+3905 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797073 | ||||||
| chrX:19797836
|
A | G | 1 | a0003c0005t0001g0157 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.162+38289T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797836 | ||||||
| chrX:19797890
|
A | AAC | 14 | a0001c0001t0001g0008a0001c0001t0001g0077a0001c0001t0001g0088others(11): Show | 14 | HG01496.hp1 HG02451.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.162+38233_162+3823 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797890 | ||||||
| chrX:19797890
|
A | AACAC | 12 | a0001c0001t0001g0018a0001c0001t0001g0108a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.162+38231_162+3823 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797890 | ||||||
| chrX:19797890
|
A | AACACACA others(3): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.162+38225_162+3823 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797890 | ||||||
| chrX:19797890
|
AAC | A | 42 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(39): Show | 42 | HG00639.hp2 HG01070.hp1 HG01123.hp1 others(39): Show |
intron_variant | MODIFIER | c.162+38233_162+3823 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19797890 | ||||||
| chrX:19798608
|
C | G | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.162+37517G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19798608 | ||||||
| chrX:19799154
|
C | G | 1 | a0001c0001t0001g0116 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.162+36971G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19799154 | ||||||
| chrX:19799286
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.162+36839A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19799286 | ||||||
| chrX:19799858
|
G | GT | 1 | a0001c0001t0001g0048 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.162+36266dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19799858 | ||||||
| chrX:19800588
|
CAT | C | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.162+35535_162+3553 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19800588 | ||||||
| chrX:19800846
|
T | A | 1 | a0001c0001t0001g0089 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.162+35279A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19800846 | ||||||
| chrX:19801182
|
G | A | 3 | a0001c0001t0001g0108a0001c0001t0001g0184a0001c0001t0001g0185 | 3 | HG00621.hp1 NA18612.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.162+34943C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19801182 | ||||||
| chrX:19801569
|
G | T | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.162+34556C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19801569 | ||||||
| chrX:19802084
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.162+34041C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802084 | ||||||
| chrX:19802220
|
C | CG | 1 | a0001c0001t0001g0113 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.162+33904dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802220 | ||||||
| chrX:19802452
|
C | A | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+33673G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802452 | ||||||
| chrX:19802471
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.162+33654C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802471 | ||||||
| chrX:19802624
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.162+33501A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802624 | ||||||
| chrX:19802651
|
T | C | 36 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.162+33474A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802651 | ||||||
| chrX:19802913
|
G | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.162+33212C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19802913 | ||||||
| chrX:19803098
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.162+33027C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803098 | ||||||
| chrX:19803142
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.162+32983T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803142 | ||||||
| chrX:19803180
|
G | A | 29 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(26): Show | 29 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.162+32945C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803180 | ||||||
| chrX:19803241
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.162+32884C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803241 | ||||||
| chrX:19803387
|
T | C | 11 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 11 | HG00733.hp1 HG01106.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.162+32738A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803387 | ||||||
| chrX:19803435
|
C | T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.162+32690G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19803435 | ||||||
| chrX:19804171
|
T | TA | 2 | a0001c0001t0001g0050a0001c0001t0001g0053 | 2 | HG02630.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.162+31953dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804171 | ||||||
| chrX:19804213
|
G | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+31912C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804213 | ||||||
| chrX:19804257
|
T | C | 36 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.162+31868A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804257 | ||||||
| chrX:19804321
|
G | C | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.162+31804C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804321 | ||||||
| chrX:19804638
|
C | CT | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+31486dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804638 | ||||||
| chrX:19804650
|
T | C | 6 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0003t0001g0049others(3): Show | 6 | HG01106.hp1 HG02922.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.162+31475A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804650 | ||||||
| chrX:19804809
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.162+31316C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804809 | ||||||
| chrX:19804882
|
A | AC | 76 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(73): Show | 76 | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.162+31242dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804882
|
A | ACC | 20 | a0001c0001t0001g0067a0001c0001t0001g0073a0001c0001t0001g0088others(17): Show | 20 | HG00621.hp1 HG01123.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.162+31241_162+3124 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804882
|
A | ACCC | 5 | a0001c0001t0001g0134a0001c0001t0001g0161a0001c0001t0003g0058others(2): Show | 5 | HG02486.hp1 HG02559.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+31240_162+3124 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804882
|
A | ACCCC | 4 | a0001c0001t0001g0105a0001c0001t0001g0133a0001c0002t0002g0178others(1): Show | 4 | HG02615.hp2 HG06807.hp2 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+31239_162+3124 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804882
|
AC | A | 7 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0075others(4): Show | 7 | HG00733.hp2 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.162+31242delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804882
|
ACC | A | 9 | a0001c0001t0001g0018a0001c0001t0001g0192a0001c0001t0001g0194others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.162+31241_162+3124 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804882 | ||||||
| chrX:19804883
|
C | CCCG | 3 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168 | 3 | HG02559.hp2 HG02572.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.162+31241_162+3124 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804883 | ||||||
| chrX:19804884
|
C | CCG | 12 | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0026others(9): Show | 12 | HG01192.hp1 HG01981.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.162+31240_162+3124 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804884 | ||||||
| chrX:19804885
|
C | CG | 36 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(33): Show | 36 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.162+31239_162+3124 others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804885 | ||||||
| chrX:19804886
|
C | A | 1 | a0001c0001t0001g0122 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.162+31239G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804886 | ||||||
| chrX:19804886
|
C | CCG | 1 | a0001c0001t0001g0139 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.162+31238_162+3123 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804886 | ||||||
| chrX:19804886
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.162+31239G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804886 | ||||||
| chrX:19804891
|
C | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.162+31234G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804891 | ||||||
| chrX:19804895
|
C | A | 3 | a0001c0001t0001g0106a0001c0001t0001g0122a0001c0001t0001g0148 | 3 | HG01255.hp1 NA18962.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.162+31230G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804895 | ||||||
| chrX:19804895
|
C | CA | 6 | a0001c0001t0001g0081a0001c0001t0001g0113a0001c0001t0001g0114others(3): Show | 6 | HG02135.hp1 NA18966.hp1 NA18967.hp1 others(3): Show |
intron_variant | MODIFIER | c.162+31229dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804895 | ||||||
| chrX:19804895
|
C | CCA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.162+31229_162+3123 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19804895 | ||||||
| chrX:19805017
|
GTTTGTTT others(5): Show |
G | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+31096_162+3110 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805017 | ||||||
| chrX:19805419
|
C | T | 11 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(8): Show | 11 | HG01070.hp1 HG02486.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.162+30706G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805419 | ||||||
| chrX:19805426
|
G | A | 4 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0202others(1): Show | 4 | HG02486.hp1 HG02615.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+30699C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805426 | ||||||
| chrX:19805525
|
T | TA | 21 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0086others(18): Show | 21 | HG01106.hp1 HG01981.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.162+30599dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805525 | ||||||
| chrX:19805525
|
T | TAA | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.162+30598_162+3059 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805525 | ||||||
| chrX:19805525
|
TA | T | 21 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(18): Show | 21 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(18): Show |
intron_variant | MODIFIER | c.162+30599delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805525 | ||||||
| chrX:19805596
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+30529G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805596 | ||||||
| chrX:19805597
|
G | A | 1 | a0001c0002t0002g0202 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.162+30528C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805597 | ||||||
| chrX:19805688
|
A | G | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(76): Show |
intron_variant | MODIFIER | c.162+30437T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805688 | ||||||
| chrX:19805720
|
C | G | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.162+30405G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805720 | ||||||
| chrX:19805822
|
A | G | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+30303T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805822 | ||||||
| chrX:19805868
|
A | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.162+30257T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19805868 | ||||||
| chrX:19806564
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+29561C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806564 | ||||||
| chrX:19806566
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+29559C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806566 | ||||||
| chrX:19806655
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.162+29470A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806655 | ||||||
| chrX:19806771
|
T | A | 16 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(13): Show | 16 | HG00733.hp1 HG02055.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.162+29354A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806771 | ||||||
| chrX:19806852
|
T | C | 1 | a0001c0001t0001g0064 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.162+29273A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806852 | ||||||
| chrX:19806963
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+29162A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19806963 | ||||||
| chrX:19807150
|
T | G | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.162+28975A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807150 | ||||||
| chrX:19807168
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.162+28957A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807168 | ||||||
| chrX:19807261
|
A | G | 17 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(14): Show | 17 | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.162+28864T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807261 | ||||||
| chrX:19807638
|
T | C | 15 | a0001c0001t0001g0050a0001c0001t0001g0175a0001c0001t0001g0181others(12): Show | 15 | HG01070.hp1 HG01884.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.162+28487A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807638 | ||||||
| chrX:19807816
|
T | C | 15 | a0001c0001t0001g0050a0001c0001t0001g0175a0001c0001t0001g0181others(12): Show | 15 | HG01070.hp1 HG01884.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.162+28309A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807816 | ||||||
| chrX:19807903
|
T | C | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(25): Show | 28 | HG00733.hp1 HG01106.hp1 HG02258.hp1 others(25): Show |
intron_variant | MODIFIER | c.162+28222A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19807903 | ||||||
| chrX:19808335
|
CT | C | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.162+27789delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19808335 | ||||||
| chrX:19808442
|
GA | G | 1 | a0001c0001t0007g0127 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.162+27682delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19808442 | ||||||
| chrX:19808604
|
C | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+27521G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19808604 | ||||||
| chrX:19808703
|
A | G | 5 | a0001c0001t0001g0050a0001c0001t0001g0175a0001c0001t0001g0181others(2): Show | 5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.162+27422T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19808703 | ||||||
| chrX:19808892
|
A | G | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.162+27233T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19808892 | ||||||
| chrX:19809198
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.162+26927G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809198 | ||||||
| chrX:19809291
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+26834G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809291 | ||||||
| chrX:19809431
|
G | A | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.162+26694C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809431 | ||||||
| chrX:19809530
|
A | G | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.162+26595T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809530 | ||||||
| chrX:19809545
|
AAGTC | A | 1 | a0001c0001t0001g0076 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.162+26576_162+2657 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809545 | ||||||
| chrX:19809737
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.162+26388C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809737 | ||||||
| chrX:19809894
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+26231G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19809894 | ||||||
| chrX:19810578
|
C | T | 3 | a0001c0001t0001g0069a0001c0001t0001g0089a0001c0001t0001g0100 | 3 | HG00642.hp1 HG01261.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.162+25547G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19810578 | ||||||
| chrX:19810684
|
G | C | 42 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(39): Show | 42 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.162+25441C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19810684 | ||||||
| chrX:19811183
|
TTGTGGAA others(1895): Show |
T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.162+23040_162+2494 others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19811183 | ||||||
| chrX:19811270
|
T | C | 1 | a0001c0001t0001g0025 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.162+24855A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19811270 | ||||||
| chrX:19811527
|
C | T | 1 | a0001c0001t0001g0069 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.162+24598G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19811527 | ||||||
| chrX:19811543
|
T | A | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.162+24582A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19811543 | ||||||
| chrX:19811662
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+24463G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19811662 | ||||||
| chrX:19812276
|
T | C | 1 | a0001c0001t0008g0023 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.162+23849A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812276 | ||||||
| chrX:19812358
|
T | C | 1 | a0001c0001t0001g0026 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.162+23767A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812358 | ||||||
| chrX:19812408
|
T | C | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+23717A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812408 | ||||||
| chrX:19812665
|
C | CA | 5 | a0001c0001t0001g0072a0001c0001t0001g0107a0001c0001t0001g0142others(2): Show | 5 | HG01975.hp2 HG02027.hp1 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+23459dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812665 | ||||||
| chrX:19812665
|
CA | C | 49 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(46): Show | 49 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.162+23459delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812665 | ||||||
| chrX:19812665
|
CAA | C | 6 | a0001c0001t0001g0050a0001c0001t0001g0161a0001c0001t0001g0175others(3): Show | 6 | HG01884.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.162+23458_162+2345 others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812665 | ||||||
| chrX:19812665
|
CAAA | C | 12 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.162+23457_162+2345 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812665 | ||||||
| chrX:19812665
|
CAAAA | C | 2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.162+23456_162+2345 others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812665 | ||||||
| chrX:19812840
|
T | C | 1 | a0001c0001t0001g0122 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.162+23285A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812840 | ||||||
| chrX:19812892
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+23233A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812892 | ||||||
| chrX:19812893
|
T | C | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+23232A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19812893 | ||||||
| chrX:19813099
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.162+23026G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813099 | ||||||
| chrX:19813160
|
A | AAAG | 20 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(17): Show | 20 | HG00639.hp1 HG00733.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.162+22962_162+2296 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAG | 2 | a0001c0002t0002g0178a0001c0002t0002g0202 | 2 | HG02615.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.162+22959_162+2296 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAGA others(2): Show |
1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.162+22956_162+2296 others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAGA others(5): Show |
3 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051 | 3 | HG01106.hp1 HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.162+22953_162+2296 others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAGA others(8): Show |
2 | a0001c0002t0002g0187a0001c0002t0012g0186 | 2 | HG02559.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.162+22950_162+2296 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAGA others(11): Show |
2 | a0001c0002t0002g0188a0001c0002t0002g0189 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.162+22947_162+2296 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
A | AAAGAAGA others(14): Show |
1 | a0001c0002t0002g0190 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.162+22944_162+2296 others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
AAAG | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+22962_162+2296 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
AAAGAAG | A | 35 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(32): Show | 35 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.162+22959_162+2296 others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813160
|
AAAGAAGA others(8): Show |
A | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.162+22950_162+2296 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813160 | ||||||
| chrX:19813234
|
T | C | 3 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038 | 3 | HG01243.hp1 HG02622.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.162+22891A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813234 | ||||||
| chrX:19813325
|
C | CT | 4 | a0001c0001t0001g0052a0001c0001t0001g0177a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02145.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+22799dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813325 | ||||||
| chrX:19813325
|
CT | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.162+22799delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813325 | ||||||
| chrX:19813907
|
T | G | 15 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 15 | HG00733.hp1 HG02055.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.162+22218A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19813907 | ||||||
| chrX:19814010
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.162+22115C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19814010 | ||||||
| chrX:19814175
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+21950A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19814175 | ||||||
| chrX:19814335
|
G | A | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+21790C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19814335 | ||||||
| chrX:19814595
|
G | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+21530C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19814595 | ||||||
| chrX:19814785
|
T | C | 50 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(47): Show | 50 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(47): Show |
intron_variant | MODIFIER | c.162+21340A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19814785 | ||||||
| chrX:19815182
|
A | G | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+20943T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815182 | ||||||
| chrX:19815274
|
T | C | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.162+20851A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815274 | ||||||
| chrX:19815381
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.162+20744G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815381 | ||||||
| chrX:19815759
|
T | C | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.162+20366A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815759 | ||||||
| chrX:19815807
|
T | C | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.162+20318A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815807 | ||||||
| chrX:19815865
|
T | C | 2 | a0001c0001t0001g0126a0001c0001t0007g0127 | 2 | NA18986.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.162+20260A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815865 | ||||||
| chrX:19815995
|
T | C | 10 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(7): Show | 10 | HG01070.hp1 HG02559.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.162+20130A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19815995 | ||||||
| chrX:19816154
|
C | T | 2 | a0001c0006t0001g0054a0001c0009t0002g0009 | 2 | HG01070.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+19971G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19816154 | ||||||
| chrX:19816865
|
G | T | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(200): Show |
intron_variant | MODIFIER | c.162+19260C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19816865 | ||||||
| chrX:19816874
|
T | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0175a0001c0001t0001g0181others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+19251A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19816874 | ||||||
| chrX:19817088
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.162+19037A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817088 | ||||||
| chrX:19817095
|
T | G | 3 | a0001c0001t0001g0161a0001c0001t0001g0171a0001c0001t0002g0003 | 3 | HG01891.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.162+19030A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817095 | ||||||
| chrX:19817263
|
TCTC | T | 1 | a0001c0001t0001g0019 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.162+18859_162+1886 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817263 | ||||||
| chrX:19817401
|
G | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.162+18724C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817401 | ||||||
| chrX:19817608
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.162+18517A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817608 | ||||||
| chrX:19817650
|
T | C | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+18475A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817650 | ||||||
| chrX:19817798
|
C | T | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.162+18327G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817798 | ||||||
| chrX:19817892
|
C | T | 1 | a0001c0001t0001g0184 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.162+18233G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817892 | ||||||
| chrX:19817991
|
A | G | 7 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(4): Show | 7 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.162+18134T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19817991 | ||||||
| chrX:19818075
|
T | C | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.162+18050A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818075 | ||||||
| chrX:19818335
|
TG | T | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.162+17789delC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818335 | ||||||
| chrX:19818668
|
T | G | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+17457A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818668 | ||||||
| chrX:19818672
|
T | C | 1 | a0001c0002t0002g0189 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.162+17453A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818672 | ||||||
| chrX:19818677
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.162+17448C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818677 | ||||||
| chrX:19818859
|
G | A | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.162+17266C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818859 | ||||||
| chrX:19818966
|
C | T | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+17159G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19818966 | ||||||
| chrX:19819081
|
T | G | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+17044A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819081 | ||||||
| chrX:19819263
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.162+16862A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819263 | ||||||
| chrX:19819343
|
A | G | 61 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(58): Show | 61 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(58): Show |
intron_variant | MODIFIER | c.162+16782T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819343 | ||||||
| chrX:19819478
|
C | A | 2 | a0001c0001t0001g0018a0001c0001t0001g0200 | 2 | HG02970.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.162+16647G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819478 | ||||||
| chrX:19819551
|
T | A | 12 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(9): Show | 12 | HG01243.hp1 HG01975.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.162+16574A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819551 | ||||||
| chrX:19819892
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.162+16233G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19819892 | ||||||
| chrX:19820067
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.162+16058T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19820067 | ||||||
| chrX:19820373
|
G | T | 76 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(73): Show | 76 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(73): Show |
intron_variant | MODIFIER | c.162+15752C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19820373 | ||||||
| chrX:19820599
|
T | C | 7 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.162+15526A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19820599 | ||||||
| chrX:19820640
|
G | GT | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+15484dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19820640 | ||||||
| chrX:19821046
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+15079G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821046 | ||||||
| chrX:19821087
|
GT | G | 1 | a0001c0001t0006g0103 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.162+15037delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821087 | ||||||
| chrX:19821101
|
A | G | 1 | a0001c0001t0001g0126 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.162+15024T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821101 | ||||||
| chrX:19821112
|
C | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.162+15013G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821112 | ||||||
| chrX:19821386
|
G | A | 42 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(39): Show | 42 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.162+14739C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821386 | ||||||
| chrX:19821389
|
TCAA | T | 2 | a0001c0001t0001g0090a0001c0003t0004g0180 | 2 | NA19062.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.162+14733_162+1473 others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821389 | ||||||
| chrX:19821461
|
T | TA | 1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.162+14663dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821461 | ||||||
| chrX:19821473
|
A | G | 65 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(62): Show | 65 | HG00639.hp2 HG01070.hp1 HG01070.hp2 others(62): Show |
intron_variant | MODIFIER | c.162+14652T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821473 | ||||||
| chrX:19821482
|
T | C | 1 | a0001c0001t0001g0036 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.162+14643A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821482 | ||||||
| chrX:19821811
|
G | A | 14 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.162+14314C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19821811 | ||||||
| chrX:19822269
|
C | T | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.162+13856G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19822269 | ||||||
| chrX:19822544
|
A | G | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.162+13581T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19822544 | ||||||
| chrX:19822784
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.162+13341G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19822784 | ||||||
| chrX:19822795
|
T | A | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.162+13330A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19822795 | ||||||
| chrX:19823330
|
T | C | 82 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(79): Show | 82 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(79): Show |
intron_variant | MODIFIER | c.162+12795A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19823330 | ||||||
| chrX:19823351
|
T | C | 5 | a0001c0001t0001g0052a0001c0003t0001g0049a0001c0003t0001g0051others(2): Show | 5 | HG01106.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+12774A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19823351 | ||||||
| chrX:19823835
|
GT | G | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.162+12289delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19823835 | ||||||
| chrX:19824090
|
G | T | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.162+12035C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19824090 | ||||||
| chrX:19824481
|
A | C | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.162+11644T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19824481 | ||||||
| chrX:19824686
|
G | A | 3 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0010t0001g0199 | 3 | HG01884.hp1 HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+11439C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19824686 | ||||||
| chrX:19824737
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.162+11388A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19824737 | ||||||
| chrX:19825431
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.162+10694C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19825431 | ||||||
| chrX:19825591
|
G | T | 13 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0191others(10): Show | 13 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.162+10534C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19825591 | ||||||
| chrX:19825691
|
T | C | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.162+10434A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19825691 | ||||||
| chrX:19825710
|
C | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+10415G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19825710 | ||||||
| chrX:19826260
|
G | A | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.162+9865C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826260 | ||||||
| chrX:19826523
|
T | A | 1 | a0001c0001t0001g0149 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.162+9602A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826523 | ||||||
| chrX:19826525
|
T | A | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.162+9600A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826525 | ||||||
| chrX:19826525
|
T | TA | 1 | a0001c0001t0001g0086 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.162+9599dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826525 | ||||||
| chrX:19826525
|
TA | T | 1 | a0001c0001t0001g0073 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.162+9599delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826525 | ||||||
| chrX:19826663
|
A | G | 4 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG01070.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+9462T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826663 | ||||||
| chrX:19826685
|
A | AATAAC | 40 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0067others(37): Show | 40 | HG00609.hp1 HG00673.hp1 HG01256.hp1 others(37): Show |
intron_variant | MODIFIER | c.162+9435_162+9439d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826685 | ||||||
| chrX:19826685
|
A | AATAACAT others(3): Show |
5 | a0001c0001t0001g0094a0001c0001t0001g0106a0001c0001t0001g0110others(2): Show | 5 | HG01255.hp1 HG02083.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+9430_162+9439d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826685 | ||||||
| chrX:19826685
|
AATAAC | A | 50 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(47): Show | 50 | HG00738.hp1 HG01123.hp2 HG01167.hp1 others(47): Show |
intron_variant | MODIFIER | c.162+9435_162+9439d others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826685 | ||||||
| chrX:19826685
|
AATAACAT others(3): Show |
A | 27 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0019others(24): Show | 27 | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.162+9430_162+9439d others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826685 | ||||||
| chrX:19826685
|
AATAACAT others(13): Show |
A | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.162+9420_162+9439d others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826685 | ||||||
| chrX:19826959
|
C | G | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.162+9166G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19826959 | ||||||
| chrX:19827378
|
G | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.162+8747C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827378 | ||||||
| chrX:19827485
|
A | G | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.162+8640T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827485 | ||||||
| chrX:19827585
|
G | A | 17 | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0175others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.162+8540C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827585 | ||||||
| chrX:19827654
|
A | C | 61 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0024others(58): Show | 61 | HG00639.hp2 HG01070.hp1 HG01070.hp2 others(58): Show |
intron_variant | MODIFIER | c.162+8471T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827654 | ||||||
| chrX:19827760
|
C | G | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.162+8365G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827760 | ||||||
| chrX:19827781
|
C | CT | 13 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0022others(10): Show | 13 | HG02055.hp1 HG02071.hp1 HG02135.hp1 others(10): Show |
intron_variant | MODIFIER | c.162+8343dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827781 | ||||||
| chrX:19827781
|
C | CTT | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.162+8342_162+8343d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827781 | ||||||
| chrX:19827781
|
CT | C | 38 | a0001c0001t0001g0024a0001c0001t0001g0059a0001c0001t0001g0070others(35): Show | 38 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.162+8343delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827781 | ||||||
| chrX:19827781
|
CTT | C | 2 | a0001c0001t0001g0195a0001c0001t0001g0200 | 2 | HG01891.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.162+8342_162+8343d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827781 | ||||||
| chrX:19827886
|
CAAAA | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.162+8235_162+8238d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827886 | ||||||
| chrX:19827890
|
A | AAAAC | 2 | a0001c0001t0001g0084a0001c0001t0001g0094 | 2 | HG00609.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.162+8231_162+8234d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827890 | ||||||
| chrX:19827890
|
AAAAC | A | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(76): Show |
intron_variant | MODIFIER | c.162+8231_162+8234d others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827890 | ||||||
| chrX:19827890
|
AAAACAAA others(1): Show |
A | 3 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0031 | 3 | HG01167.hp1 HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.162+8227_162+8234d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827890 | ||||||
| chrX:19827890
|
AAAACAAA others(5): Show |
A | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+8223_162+8234d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827890 | ||||||
| chrX:19827963
|
A | G | 4 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG02015.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+8162T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19827963 | ||||||
| chrX:19828006
|
T | TC | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.162+8118dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828006 | ||||||
| chrX:19828034
|
C | T | 16 | a0001c0001t0001g0059a0001c0001t0001g0175a0001c0001t0001g0181others(13): Show | 16 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.162+8091G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828034 | ||||||
| chrX:19828218
|
A | G | 1 | a0001c0001t0001g0086 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.162+7907T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828218 | ||||||
| chrX:19828262
|
G | GT | 11 | a0001c0001t0001g0078a0001c0002t0001g0179a0001c0002t0002g0178others(8): Show | 11 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.162+7862dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828262 | ||||||
| chrX:19828476
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.162+7649G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828476 | ||||||
| chrX:19828500
|
G | A | 2 | a0001c0001t0001g0084a0001c0001t0001g0094 | 2 | HG00609.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.162+7625C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828500 | ||||||
| chrX:19828645
|
G | T | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.162+7480C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828645 | ||||||
| chrX:19828727
|
T | G | 1 | a0001c0001t0001g0111 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.162+7398A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828727 | ||||||
| chrX:19828992
|
C | A | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+7133G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19828992 | ||||||
| chrX:19829001
|
A | G | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+7124T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829001 | ||||||
| chrX:19829418
|
C | CT | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.162+6706dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829418 | ||||||
| chrX:19829489
|
C | G | 1 | a0001c0001t0001g0160 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.162+6636G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829489 | ||||||
| chrX:19829617
|
G | A | 3 | a0001c0001t0001g0053a0001c0006t0001g0054a0001c0009t0002g0009 | 3 | HG01070.hp1 HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.162+6508C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829617 | ||||||
| chrX:19829716
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.162+6409C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829716 | ||||||
| chrX:19829720
|
C | CA | 42 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(39): Show | 42 | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(39): Show |
intron_variant | MODIFIER | c.162+6404dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829720 | ||||||
| chrX:19829720
|
CA | C | 4 | a0001c0001t0001g0053a0001c0001t0001g0115a0001c0001t0001g0149others(1): Show | 4 | HG03041.hp1 NA18957.hp1 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+6404delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829720 | ||||||
| chrX:19829810
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.162+6315A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829810 | ||||||
| chrX:19829863
|
G | A | 2 | a0001c0001t0001g0106a0001c0001t0001g0122 | 2 | HG01255.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.162+6262C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19829863 | ||||||
| chrX:19830233
|
G | A | 1 | a0001c0001t0001g0112 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.162+5892C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830233 | ||||||
| chrX:19830342
|
C | CA | 2 | a0001c0001t0001g0008a0001c0001t0001g0079 | 2 | HG02738.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.162+5782dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830342 | ||||||
| chrX:19830342
|
CA | C | 13 | a0001c0001t0001g0053a0001c0001t0001g0181a0001c0001t0001g0194others(10): Show | 13 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.162+5782delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830342 | ||||||
| chrX:19830346
|
A | C | 1 | a0001c0001t0001g0163 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.162+5779T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830346 | ||||||
| chrX:19830597
|
AT | A | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.162+5527delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830597 | ||||||
| chrX:19830710
|
C | T | 8 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(5): Show | 8 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.162+5415G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830710 | ||||||
| chrX:19830850
|
A | AT | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+5274dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19830850 | ||||||
| chrX:19831392
|
C | A | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.162+4733G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831392 | ||||||
| chrX:19831412
|
C | CA | 37 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(34): Show | 37 | HG00733.hp1 HG01070.hp1 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.162+4712dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831412 | ||||||
| chrX:19831412
|
C | CAA | 4 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0002t0012g0186others(1): Show | 4 | HG02559.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.162+4711_162+4712d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831412 | ||||||
| chrX:19831412
|
CA | C | 2 | a0001c0001t0001g0115a0001c0001t0001g0126 | 2 | NA18986.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.162+4712delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831412 | ||||||
| chrX:19831430
|
G | A | 21 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(18): Show | 21 | HG00733.hp1 HG01070.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.162+4695C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831430 | ||||||
| chrX:19831513
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.162+4612G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831513 | ||||||
| chrX:19831740
|
G | A | 1 | a0001c0001t0001g0142 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.162+4385C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831740 | ||||||
| chrX:19831791
|
C | CAAAAAAA others(1): Show |
1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.162+4326_162+4333d others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831791 | ||||||
| chrX:19831791
|
C | CAAAAAAA others(4): Show |
3 | a0001c0001t0001g0090a0001c0001t0001g0173a0001c0003t0004g0180 | 3 | HG03710.hp1 NA19062.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.162+4323_162+4333d others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831791 | ||||||
| chrX:19831791
|
C | CAAAAAAA others(5): Show |
109 | a0001c0001t0001g0012a0001c0001t0001g0046a0001c0001t0001g0059others(106): Show | 109 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.162+4322_162+4333d others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831791 | ||||||
| chrX:19831791
|
C | CAAAAAAA others(6): Show |
63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(60): Show | 63 | HG00639.hp2 HG00733.hp1 HG01099.hp1 others(60): Show |
intron_variant | MODIFIER | c.162+4321_162+4333d others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831791 | ||||||
| chrX:19831791
|
C | CAAAAAAA others(7): Show |
17 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0053others(14): Show | 17 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.162+4333_162+4334i others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831791 | ||||||
| chrX:19831798
|
A | AAAAAAAA others(7): Show |
1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.162+4326_162+4327i others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831798 | ||||||
| chrX:19831798
|
A | AAAAAAAA others(6): Show |
7 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(4): Show | 7 | HG02615.hp2 HG02630.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.162+4326_162+4327i others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19831798 | ||||||
| chrX:19832279
|
C | A | 2 | a0001c0001t0001g0129a0001c0001t0001g0163 | 2 | NA18944.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.162+3846G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832279 | ||||||
| chrX:19832644
|
T | TC | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.162+3480dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832644 | ||||||
| chrX:19832651
|
G | GC | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.162+3473dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832651 | ||||||
| chrX:19832670
|
A | C | 84 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 84 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(81): Show |
intron_variant | MODIFIER | c.162+3455T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832670 | ||||||
| chrX:19832852
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.162+3273C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832852 | ||||||
| chrX:19832933
|
A | G | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.162+3192T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832933 | ||||||
| chrX:19832936
|
G | A | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.162+3189C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832936 | ||||||
| chrX:19832970
|
C | T | 1 | a0002c0004t0001g0143 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.162+3155G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19832970 | ||||||
| chrX:19833164
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.162+2961C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19833164 | ||||||
| chrX:19833171
|
C | T | 1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.162+2954G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19833171 | ||||||
| chrX:19833436
|
G | A | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.162+2689C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19833436 | ||||||
| chrX:19833633
|
C | T | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.162+2492G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19833633 | ||||||
| chrX:19833742
|
C | T | 9 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.162+2383G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19833742 | ||||||
| chrX:19834988
|
A | T | 15 | a0001c0001t0001g0059a0001c0001t0001g0181a0001c0001t0001g0191others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.162+1137T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19834988 | ||||||
| chrX:19835019
|
C | A | 3 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0171 | 3 | HG02818.hp2 HG02886.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.162+1106G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835019 | ||||||
| chrX:19835038
|
C | CA | 5 | a0001c0001t0001g0010a0001c0001t0001g0056a0001c0001t0001g0078others(2): Show | 5 | HG02027.hp1 HG02818.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+1086dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835038 | ||||||
| chrX:19835038
|
C | CAA | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.162+1085_162+1086d others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835038 | ||||||
| chrX:19835038
|
CA | C | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.162+1086delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835038 | ||||||
| chrX:19835380
|
T | C | 15 | a0001c0001t0001g0059a0001c0001t0001g0181a0001c0001t0001g0191others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.162+745A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835380 | ||||||
| chrX:19835582
|
A | AT | 8 | a0001c0001t0001g0059a0001c0001t0001g0071a0001c0001t0001g0112others(5): Show | 8 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.162+542dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835582 | ||||||
| chrX:19835582
|
AT | A | 59 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0014others(56): Show | 59 | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(56): Show |
intron_variant | MODIFIER | c.162+542delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835582 | ||||||
| chrX:19835582
|
ATT | A | 2 | a0001c0001t0001g0181a0005c0007t0001g0166 | 2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.162+541_162+542del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835582 | ||||||
| chrX:19835640
|
G | A | 14 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0002t0001g0179others(11): Show | 14 | HG01106.hp1 HG02559.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.162+485C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835640 | ||||||
| chrX:19835855
|
AT | A | 21 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(18): Show | 21 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.162+269delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19835855 | ||||||
| chrX:19836003
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.162+122A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | 19836003 | ||||||
| chrX:19836538
|
G | A | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.5-256C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19836538 | ||||||
| chrX:19837047
|
T | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-765A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837047 | ||||||
| chrX:19837146
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5-864C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837146 | ||||||
| chrX:19837462
|
C | CT | 25 | a0001c0001t0001g0018a0001c0001t0001g0065a0001c0001t0001g0071others(22): Show | 25 | HG00621.hp1 HG01070.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.5-1181dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837462 | ||||||
| chrX:19837462
|
CT | C | 44 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0024others(41): Show | 44 | HG00639.hp2 HG01070.hp1 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.5-1181delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837462 | ||||||
| chrX:19837515
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-1233G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837515 | ||||||
| chrX:19837942
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-1660G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19837942 | ||||||
| chrX:19838059
|
A | AAAC | 14 | a0001c0001t0001g0005a0001c0001t0001g0053a0001c0001t0001g0125others(11): Show | 14 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.5-1780_5-1778dupGT others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838059 | ||||||
| chrX:19838059
|
AAAC | A | 8 | a0001c0001t0001g0022a0001c0001t0001g0064a0001c0001t0001g0095others(5): Show | 8 | HG01256.hp1 HG01943.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.5-1780_5-1778delGT others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838059 | ||||||
| chrX:19838059
|
AAACAAC | A | 4 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0099others(1): Show | 4 | HG02818.hp2 HG02886.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.5-1783_5-1778delGT others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838059 | ||||||
| chrX:19838059
|
AAACAACA others(5): Show |
A | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.5-1789_5-1778delGT others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838059 | ||||||
| chrX:19838096
|
AAC | A | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.5-1816_5-1815delGT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838096 | ||||||
| chrX:19838098
|
C | A | 42 | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0024others(39): Show | 42 | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(39): Show |
intron_variant | MODIFIER | c.5-1816G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838098 | ||||||
| chrX:19838098
|
C | CAAA | 24 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(21): Show | 24 | HG00733.hp1 HG01070.hp1 HG02055.hp1 others(21): Show |
intron_variant | MODIFIER | c.5-1819_5-1817dupTT others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838098 | ||||||
| chrX:19838098
|
C | CAACAAA | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.5-1817_5-1816insTT others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838098 | ||||||
| chrX:19838099
|
A | AAC | 1 | a0001c0010t0001g0199 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5-1818_5-1817insGT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838099 | ||||||
| chrX:19838202
|
T | C | 1 | a0001c0001t0001g0078 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.5-1920A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838202 | ||||||
| chrX:19838360
|
T | C | 12 | a0001c0001t0001g0053a0001c0001t0001g0181a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.5-2078A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838360 | ||||||
| chrX:19838673
|
G | T | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5-2391C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838673 | ||||||
| chrX:19838886
|
C | CA | 28 | a0001c0001t0001g0020a0001c0001t0001g0059a0001c0001t0001g0080others(25): Show | 28 | HG00609.hp1 HG01070.hp2 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.5-2605dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838886 | ||||||
| chrX:19838886
|
C | CAAA | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-2607_5-2605dupTT others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838886 | ||||||
| chrX:19838886
|
CA | C | 4 | a0001c0001t0001g0024a0001c0001t0001g0139a0001c0001t0001g0161others(1): Show | 4 | HG01515.hp1 HG02615.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-2605delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838886 | ||||||
| chrX:19838886
|
CAAAAAAA | C | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5-2611_5-2605delTT others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838886 | ||||||
| chrX:19838899
|
A | AG | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-2618_5-2617insC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838899 | ||||||
| chrX:19838899
|
AAAAAAAA others(1): Show |
A | 1 | a0001c0001t0001g0072 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.5-2625_5-2618delCT others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838899 | ||||||
| chrX:19838901
|
A | G | 3 | a0001c0001t0001g0067a0001c0001t0001g0131a0001c0003t0001g0049 | 3 | HG03195.hp1 NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.5-2619T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19838901 | ||||||
| chrX:19839083
|
A | G | 9 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-2801T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839083 | ||||||
| chrX:19839215
|
GT | G | 1 | a0001c0001t0001g0046 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.5-2934delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839215 | ||||||
| chrX:19839322
|
T | TA | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-3041dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839322 | ||||||
| chrX:19839322
|
TA | T | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5-3041delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839322 | ||||||
| chrX:19839339
|
A | AT | 7 | a0001c0001t0001g0006a0001c0001t0001g0070a0001c0001t0001g0101others(4): Show | 7 | HG00738.hp1 HG01433.hp1 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.5-3058dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839339 | ||||||
| chrX:19839339
|
AT | A | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.5-3058delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839339 | ||||||
| chrX:19839537
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5-3255C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839537 | ||||||
| chrX:19839614
|
C | A | 5 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(2): Show | 5 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.5-3332G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19839614 | ||||||
| chrX:19840303
|
G | A | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.5-4021C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19840303 | ||||||
| chrX:19840692
|
A | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-4410T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19840692 | ||||||
| chrX:19840954
|
T | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.5-4672A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19840954 | ||||||
| chrX:19841063
|
C | T | 1 | a0001c0001t0001g0086 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.5-4781G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841063 | ||||||
| chrX:19841150
|
T | C | 9 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(6): Show | 9 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-4868A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841150 | ||||||
| chrX:19841546
|
G | A | 2 | a0001c0001t0001g0091a0001c0001t0001g0093 | 2 | NA19043.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5-5264C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841546 | ||||||
| chrX:19841587
|
T | C | 1 | a0001c0001t0001g0055 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.5-5305A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841587 | ||||||
| chrX:19841808
|
G | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0101 | 2 | HG02735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.5-5526C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841808 | ||||||
| chrX:19841830
|
T | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-5548A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841830 | ||||||
| chrX:19841911
|
C | CG | 5 | a0001c0001t0001g0092a0001c0001t0001g0133a0001c0001t0004g0032others(2): Show | 5 | HG02055.hp1 HG03239.hp2 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-5630dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841911 | ||||||
| chrX:19841918
|
G | GGT | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.5-5637_5-5636insAC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841918 | ||||||
| chrX:19841919
|
T | G | 1 | a0001c0001t0001g0141 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.5-5637A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841919 | ||||||
| chrX:19841919
|
T | TG | 3 | a0001c0001t0001g0002a0001c0001t0001g0164a0002c0004t0001g0143 | 3 | HG01517.hp2 NA18989.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.5-5638dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841919 | ||||||
| chrX:19841932
|
T | C | 3 | a0001c0001t0001g0053a0001c0001t0001g0177a0001c0006t0001g0054 | 3 | HG02145.hp1 HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5-5650A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19841932 | ||||||
| chrX:19842062
|
G | A | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-5780C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842062 | ||||||
| chrX:19842108
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-5826A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842108 | ||||||
| chrX:19842217
|
C | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5-5935G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842217 | ||||||
| chrX:19842274
|
TC | T | 1 | a0001c0001t0001g0071 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5-5993delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842274 | ||||||
| chrX:19842304
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.5-6022C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842304 | ||||||
| chrX:19842398
|
T | C | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-6116A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842398 | ||||||
| chrX:19842439
|
T | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-6157A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842439 | ||||||
| chrX:19842694
|
T | C | 1 | a0001c0001t0001g0099 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5-6412A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842694 | ||||||
| chrX:19842758
|
C | A | 1 | a0001c0001t0001g0094 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.5-6476G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842758 | ||||||
| chrX:19842907
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.5-6625G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842907 | ||||||
| chrX:19842936
|
C | T | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.5-6654G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19842936 | ||||||
| chrX:19843008
|
C | CT | 29 | a0001c0001t0001g0065a0001c0001t0001g0067a0001c0001t0001g0069others(26): Show | 29 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.5-6727dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843008 | ||||||
| chrX:19843008
|
C | CTT | 3 | a0001c0001t0001g0066a0001c0001t0001g0079a0001c0001t0001g0088 | 3 | HG02293.hp1 HG02738.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.5-6728_5-6727dupAA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843008 | ||||||
| chrX:19843008
|
CT | C | 52 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(49): Show | 52 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(49): Show |
intron_variant | MODIFIER | c.5-6727delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843008 | ||||||
| chrX:19843008
|
CTT | C | 6 | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0052others(3): Show | 6 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5-6728_5-6727delAA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843008 | ||||||
| chrX:19843143
|
C | G | 1 | a0001c0001t0001g0115 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.5-6861G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843143 | ||||||
| chrX:19843187
|
T | G | 1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5-6905A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843187 | ||||||
| chrX:19843681
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.5-7399C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843681 | ||||||
| chrX:19843811
|
A | C | 2 | a0001c0001t0001g0126a0001c0001t0007g0127 | 2 | NA18986.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.5-7529T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19843811 | ||||||
| chrX:19844366
|
G | A | 9 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-8084C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19844366 | ||||||
| chrX:19844636
|
T | A | 74 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.5-8354A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19844636 | ||||||
| chrX:19844691
|
G | T | 9 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-8409C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19844691 | ||||||
| chrX:19845261
|
G | A | 1 | a0001c0001t0001g0091 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5-8979C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19845261 | ||||||
| chrX:19846581
|
CCT | C | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.5-10301_5-10300del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19846581 | ||||||
| chrX:19847165
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-10883G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847165 | ||||||
| chrX:19847206
|
G | A | 2 | a0001c0001t0001g0161a0001c0001t0002g0003 | 2 | HG01891.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.5-10924C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847206 | ||||||
| chrX:19847269
|
C | T | 17 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(14): Show | 17 | HG00733.hp1 HG01070.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.5-10987G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847269 | ||||||
| chrX:19847460
|
A | T | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.5-11178T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847460 | ||||||
| chrX:19847464
|
G | GAGA | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.5-11185_5-11183dup others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847464 | ||||||
| chrX:19847816
|
G | A | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-11534C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19847816 | ||||||
| chrX:19848168
|
G | A | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | NA18943.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.5-11886C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848168 | ||||||
| chrX:19848486
|
A | G | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.5-12204T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848486 | ||||||
| chrX:19848678
|
A | G | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-12396T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848678 | ||||||
| chrX:19848711
|
G | A | 17 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0181others(14): Show | 17 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.5-12429C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848711 | ||||||
| chrX:19848768
|
T | TATTG | 5 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(2): Show | 5 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-12490_5-12487dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848768 | ||||||
| chrX:19848939
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-12657A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848939 | ||||||
| chrX:19848978
|
T | A | 53 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(50): Show | 53 | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.5-12696A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19848978 | ||||||
| chrX:19849073
|
C | G | 85 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(82): Show |
intron_variant | MODIFIER | c.5-12791G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849073 | ||||||
| chrX:19849266
|
C | T | 36 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.5-12984G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849266 | ||||||
| chrX:19849364
|
A | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5-13082T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849364 | ||||||
| chrX:19849377
|
T | C | 1 | a0001c0001t0001g0086 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.5-13095A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849377 | ||||||
| chrX:19849428
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.5-13146G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849428 | ||||||
| chrX:19849683
|
G | GA | 83 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(80): Show | 83 | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(80): Show |
intron_variant | MODIFIER | c.5-13402dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849683 | ||||||
| chrX:19849683
|
G | GAA | 8 | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0040others(5): Show | 8 | HG00639.hp2 HG01106.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.5-13403_5-13402dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19849683 | ||||||
| chrX:19850127
|
T | C | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.5-13845A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19850127 | ||||||
| chrX:19850247
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.5-13965G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19850247 | ||||||
| chrX:19850764
|
C | T | 1 | a0001c0001t0001g0182 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.5-14482G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19850764 | ||||||
| chrX:19850803
|
T | C | 6 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0078others(3): Show | 6 | HG00642.hp1 HG01261.hp1 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-14521A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19850803 | ||||||
| chrX:19851065
|
G | C | 3 | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0140 | 3 | NA18943.hp1 NA18960.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.5-14783C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19851065 | ||||||
| chrX:19851092
|
A | G | 1 | a0001c0001t0001g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.5-14810T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19851092 | ||||||
| chrX:19851528
|
G | A | 72 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(69): Show |
intron_variant | MODIFIER | c.5-15246C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19851528 | ||||||
| chrX:19851622
|
A | C | 5 | a0001c0001t0001g0069a0001c0001t0001g0086a0001c0001t0001g0089others(2): Show | 5 | HG00642.hp1 HG01261.hp1 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-15340T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19851622 | ||||||
| chrX:19852019
|
G | A | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.5-15737C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852019 | ||||||
| chrX:19852257
|
C | T | 1 | a0001c0001t0001g0116 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.5-15975G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852257 | ||||||
| chrX:19852300
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-16018C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852300 | ||||||
| chrX:19852521
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-16239G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852521 | ||||||
| chrX:19852525
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5-16243G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852525 | ||||||
| chrX:19852636
|
G | GA | 42 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(39): Show | 42 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(39): Show |
intron_variant | MODIFIER | c.5-16355dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAA | 3 | a0001c0001t0001g0040a0001c0001t0001g0043a0001c0001t0001g0115 | 3 | HG02257.hp2 NA18988.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.5-16356_5-16355dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAAAAAAA | 7 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0042others(4): Show | 7 | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.5-16361_5-16355dup others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAAAAAAA others(1): Show |
2 | a0001c0001t0001g0038a0001c0001t0001g0056 | 2 | HG02622.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.5-16362_5-16355dup others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAAAAAAA others(5): Show |
1 | a0001c0001t0003g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5-16366_5-16355dup others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAAAAAAA others(6): Show |
1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5-16367_5-16355dup others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
G | GAAAAAAA others(8): Show |
3 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG01109.hp1 HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.5-16369_5-16355dup others(15): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
GA | G | 9 | a0001c0001t0001g0016a0001c0001t0001g0050a0001c0001t0001g0052others(6): Show | 9 | HG01106.hp1 HG02630.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.5-16355delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852636
|
GAAAA | G | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-16358_5-16355del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852636 | ||||||
| chrX:19852653
|
AAAAAT | A | 5 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 5 | HG00733.hp1 HG01070.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.5-16376_5-16372del others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852653 | ||||||
| chrX:19852658
|
T | A | 9 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 9 | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-16376A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852658 | ||||||
| chrX:19852927
|
A | G | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5-16645T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852927 | ||||||
| chrX:19852928
|
AAGTGGAT others(12): Show |
A | 9 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 9 | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-16665_5-16647del others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852928 | ||||||
| chrX:19852955
|
T | C | 1 | a0001c0001t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5-16673A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852955 | ||||||
| chrX:19852977
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.5-16695G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19852977 | ||||||
| chrX:19853045
|
G | C | 7 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038others(4): Show | 7 | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.5-16763C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19853045 | ||||||
| chrX:19853150
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.5-16868C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19853150 | ||||||
| chrX:19853345
|
T | C | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-17063A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19853345 | ||||||
| chrX:19853884
|
T | A | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.5-17602A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19853884 | ||||||
| chrX:19853962
|
TA | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5-17681delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19853962 | ||||||
| chrX:19854073
|
T | C | 57 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(54): Show | 57 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(54): Show |
intron_variant | MODIFIER | c.5-17791A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19854073 | ||||||
| chrX:19854345
|
G | A | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.5-18063C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19854345 | ||||||
| chrX:19854408
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.5-18126C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19854408 | ||||||
| chrX:19855068
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-18786A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855068 | ||||||
| chrX:19855170
|
GA | G | 1 | a0001c0003t0001g0049 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.5-18889delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855170 | ||||||
| chrX:19855610
|
TTAGCCTC others(21): Show |
T | 37 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 37 | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(34): Show |
intron_variant | MODIFIER | c.5-19356_5-19329del others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855610 | ||||||
| chrX:19855732
|
CTGAGTA | C | 1 | a0001c0001t0001g0148 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.5-19456_5-19451del others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855732 | ||||||
| chrX:19855866
|
AT | A | 12 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(9): Show | 12 | HG01243.hp1 HG01975.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.5-19585delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855866 | ||||||
| chrX:19855887
|
G | T | 1 | a0001c0001t0001g0104 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.5-19605C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855887 | ||||||
| chrX:19855949
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-19667A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19855949 | ||||||
| chrX:19856060
|
C | G | 1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5-19778G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856060 | ||||||
| chrX:19856066
|
C | A | 1 | a0001c0001t0001g0144 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5-19784G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856066 | ||||||
| chrX:19856120
|
T | TA | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-19839dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856120 | ||||||
| chrX:19856131
|
A | T | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.5-19849T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856131 | ||||||
| chrX:19856207
|
C | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-19925G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856207 | ||||||
| chrX:19856724
|
C | G | 14 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(11): Show | 14 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.5-20442G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856724 | ||||||
| chrX:19856951
|
C | CT | 20 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0065others(17): Show | 20 | HG00280.hp1 HG00609.hp1 HG01496.hp2 others(17): Show |
intron_variant | MODIFIER | c.5-20670dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
C | CTT | 3 | a0001c0001t0001g0078a0001c0001t0001g0137a0001c0001t0001g0177 | 3 | HG02145.hp1 HG03831.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.5-20671_5-20670dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
C | CTTT | 2 | a0001c0001t0001g0181a0001c0001t0001g0194 | 2 | HG01884.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.5-20672_5-20670dup others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
C | CTTTT | 3 | a0001c0001t0001g0201a0001c0001t0009g0193a0001c0010t0001g0199 | 3 | HG01884.hp1 HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.5-20673_5-20670dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
C | CTTTTT | 7 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.5-20674_5-20670dup others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.5-20679_5-20670dup others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CT | C | 47 | a0001c0001t0001g0062a0001c0001t0001g0070a0001c0001t0001g0071others(44): Show | 47 | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.5-20670delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTT | C | 4 | a0001c0001t0001g0034a0001c0001t0001g0060a0001c0001t0001g0161others(1): Show | 4 | HG01069.hp1 HG01243.hp1 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-20671_5-20670del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTT | C | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0175others(1): Show | 4 | HG02559.hp2 HG02723.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.5-20672_5-20670del others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTT | C | 14 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(11): Show | 14 | HG00733.hp1 HG01070.hp1 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.5-20673_5-20670del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTT | C | 32 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | HG00639.hp2 HG01106.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.5-20674_5-20670del others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTTT | C | 4 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0191others(1): Show | 4 | HG01496.hp1 HG02451.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-20675_5-20670del others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTTTT others(1): Show |
C | 2 | a0001c0001t0001g0008a0001c0001t0001g0171 | 2 | HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.5-20677_5-20670del others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTTTT others(9): Show |
C | 9 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(6): Show | 9 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.5-20685_5-20670del others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTTTT others(10): Show |
C | 4 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045others(1): Show | 4 | HG02293.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-20686_5-20670del others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19856951
|
CTTTTTTT others(13): Show |
C | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.5-20689_5-20670del others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19856951 | ||||||
| chrX:19857120
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-20838C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857120 | ||||||
| chrX:19857330
|
G | T | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5-21048C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857330 | ||||||
| chrX:19857439
|
G | A | 1 | a0001c0001t0001g0139 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.5-21157C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857439 | ||||||
| chrX:19857503
|
G | A | 15 | a0001c0001t0001g0059a0001c0001t0001g0181a0001c0001t0001g0191others(12): Show | 15 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.5-21221C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857503 | ||||||
| chrX:19857638
|
C | T | 1 | a0001c0001t0001g0109 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.5-21356G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857638 | ||||||
| chrX:19857686
|
C | T | 12 | a0001c0001t0001g0071a0001c0001t0001g0092a0001c0001t0001g0108others(9): Show | 12 | HG00621.hp1 NA18612.hp1 NA18957.hp1 others(9): Show |
intron_variant | MODIFIER | c.5-21404G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857686 | ||||||
| chrX:19857825
|
C | T | 2 | a0001c0003t0004g0180a0001c0003t0013g0068 | 2 | HG03486.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.5-21543G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19857825 | ||||||
| chrX:19858178
|
TA | T | 1 | a0001c0001t0001g0172 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.5-21897delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858178 | ||||||
| chrX:19858217
|
A | T | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.5-21935T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858217 | ||||||
| chrX:19858274
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013 | 3 | HG00733.hp1 HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5-21992C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858274 | ||||||
| chrX:19858411
|
A | T | 1 | a0001c0001t0001g0107 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.5-22129T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858411 | ||||||
| chrX:19858431
|
G | C | 1 | a0001c0001t0001g0150 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.5-22149C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858431 | ||||||
| chrX:19858630
|
A | G | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.5-22348T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858630 | ||||||
| chrX:19858731
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5-22449A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858731 | ||||||
| chrX:19858752
|
G | A | 1 | a0001c0001t0001g0095 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.5-22470C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858752 | ||||||
| chrX:19858981
|
T | C | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.5-22699A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19858981 | ||||||
| chrX:19859152
|
A | AT | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5-22871dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19859152 | ||||||
| chrX:19859152
|
AT | A | 11 | a0001c0001t0001g0098a0001c0001t0003g0057a0001c0001t0003g0058others(8): Show | 11 | HG02559.hp1 HG02615.hp2 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.5-22871delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19859152 | ||||||
| chrX:19859359
|
A | G | 13 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(10): Show | 13 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.5-23077T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19859359 | ||||||
| chrX:19859936
|
C | G | 6 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00733.hp1 HG01070.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.5-23654G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19859936 | ||||||
| chrX:19860090
|
T | C | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5-23808A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860090 | ||||||
| chrX:19860154
|
G | A | 2 | a0001c0001t0001g0106a0001c0001t0001g0122 | 2 | HG01255.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.5-23872C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860154 | ||||||
| chrX:19860160
|
T | G | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-23878A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860160 | ||||||
| chrX:19860162
|
G | A | 1 | a0001c0001t0001g0096 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.5-23880C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860162 | ||||||
| chrX:19860280
|
TA | T | 175 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(172): Show | 175 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(172): Show |
intron_variant | MODIFIER | c.5-23999delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860280
|
TAA | T | 10 | a0001c0001t0001g0010a0001c0001t0001g0046a0001c0001t0001g0070others(7): Show | 10 | HG01070.hp1 HG01496.hp1 HG01517.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-24000_5-23999del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860280
|
TAAA | T | 1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.5-24001_5-23999del others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860280
|
TAAAA | T | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.5-24002_5-23999del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860280
|
TAAAAA | T | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5-24003_5-23999del others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860280
|
TAAAAAAA others(2): Show |
T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5-24007_5-23999del others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860280 | ||||||
| chrX:19860603
|
A | G | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-24321T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860603 | ||||||
| chrX:19860787
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.5-24505C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19860787 | ||||||
| chrX:19861059
|
T | C | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-24777A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19861059 | ||||||
| chrX:19861186
|
T | C | 75 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.5-24904A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19861186 | ||||||
| chrX:19861326
|
G | A | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.5-25044C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19861326 | ||||||
| chrX:19861412
|
TA | T | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5-25131delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19861412 | ||||||
| chrX:19861610
|
T | G | 1 | a0001c0001t0001g0194 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5-25328A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19861610 | ||||||
| chrX:19862344
|
T | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+24963A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19862344 | ||||||
| chrX:19862375
|
A | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+24932T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19862375 | ||||||
| chrX:19862460
|
T | C | 1 | a0001c0001t0001g0194 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4+24847A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19862460 | ||||||
| chrX:19862483
|
A | G | 23 | a0001c0001t0001g0059a0001c0001t0001g0181a0001c0001t0001g0191others(20): Show | 23 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.4+24824T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19862483 | ||||||
| chrX:19862662
|
C | CA | 56 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(53): Show | 56 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(53): Show |
intron_variant | MODIFIER | c.4+24644dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19862662 | ||||||
| chrX:19863005
|
C | G | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4+24302G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863005 | ||||||
| chrX:19863021
|
C | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+24286G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863021 | ||||||
| chrX:19863031
|
T | G | 2 | a0001c0001t0001g0067a0001c0001t0001g0131 | 2 | NA18948.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.4+24276A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863031 | ||||||
| chrX:19863166
|
T | C | 9 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+24141A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863166 | ||||||
| chrX:19863202
|
C | CT | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+24104dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863202 | ||||||
| chrX:19863342
|
T | C | 82 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(79): Show | 82 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(79): Show |
intron_variant | MODIFIER | c.4+23965A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863342 | ||||||
| chrX:19863414
|
C | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4+23893G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863414 | ||||||
| chrX:19863851
|
A | C | 1 | a0001c0001t0001g0098 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.4+23456T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863851 | ||||||
| chrX:19863934
|
T | G | 13 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(10): Show | 13 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.4+23373A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19863934 | ||||||
| chrX:19864088
|
A | T | 1 | a0001c0001t0001g0136 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4+23219T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864088 | ||||||
| chrX:19864268
|
A | G | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4+23039T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864268 | ||||||
| chrX:19864316
|
A | AC | 9 | a0001c0001t0001g0005a0001c0001t0001g0161a0001c0001t0001g0165others(6): Show | 9 | HG01891.hp2 HG02451.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.4+22990dupG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864316 | ||||||
| chrX:19864317
|
C | G | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+22990G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864317 | ||||||
| chrX:19864482
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+22825C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864482 | ||||||
| chrX:19864530
|
G | C | 6 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0053others(3): Show | 6 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.4+22777C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864530 | ||||||
| chrX:19864813
|
C | T | 81 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(78): Show |
intron_variant | MODIFIER | c.4+22494G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19864813 | ||||||
| chrX:19865467
|
A | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+21840T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19865467 | ||||||
| chrX:19865956
|
A | T | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.4+21351T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19865956 | ||||||
| chrX:19866011
|
A | AAC | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+21294_4+21295dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866011 | ||||||
| chrX:19866264
|
T | C | 1 | a0001c0001t0001g0076 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.4+21043A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866264 | ||||||
| chrX:19866446
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+20861C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866446 | ||||||
| chrX:19866682
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.4+20625G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866682 | ||||||
| chrX:19866692
|
T | TA | 82 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(79): Show | 82 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(79): Show |
intron_variant | MODIFIER | c.4+20614dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866692 | ||||||
| chrX:19866692
|
T | TAAAA | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+20611_4+20614dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866692 | ||||||
| chrX:19866692
|
TA | T | 1 | a0001c0001t0001g0060 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.4+20614delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866692 | ||||||
| chrX:19866984
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4+20323C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19866984 | ||||||
| chrX:19867130
|
C | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+20177G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867130 | ||||||
| chrX:19867176
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+20131C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867176 | ||||||
| chrX:19867339
|
A | T | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4+19968T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867339 | ||||||
| chrX:19867343
|
T | G | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+19964A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867343 | ||||||
| chrX:19867422
|
AC | A | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.4+19884delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867422 | ||||||
| chrX:19867530
|
A | G | 1 | a0001c0001t0001g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4+19777T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867530 | ||||||
| chrX:19867557
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+19750G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867557 | ||||||
| chrX:19867712
|
G | C | 1 | a0001c0001t0003g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4+19595C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867712 | ||||||
| chrX:19867752
|
A | T | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.4+19555T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867752 | ||||||
| chrX:19867851
|
C | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(1): Show | 4 | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.4+19456G>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867851 | ||||||
| chrX:19867854
|
A | G | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+19453T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867854 | ||||||
| chrX:19867855
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+19452A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867855 | ||||||
| chrX:19867860
|
G | GA | 1 | a0001c0001t0001g0124 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.4+19446dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19867860 | ||||||
| chrX:19868018
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(1): Show | 4 | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.4+19289G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19868018 | ||||||
| chrX:19868787
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0005g0001 | 2 | HG00738.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.4+18520G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19868787 | ||||||
| chrX:19868961
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+18346G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19868961 | ||||||
| chrX:19868981
|
C | T | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.4+18326G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19868981 | ||||||
| chrX:19869137
|
C | T | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.4+18170G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19869137 | ||||||
| chrX:19869308
|
A | G | 1 | a0001c0001t0001g0148 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.4+17999T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19869308 | ||||||
| chrX:19870188
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+17119G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19870188 | ||||||
| chrX:19870345
|
C | CT | 1 | a0001c0001t0001g0070 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.4+16961dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19870345 | ||||||
| chrX:19870495
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+16812C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19870495 | ||||||
| chrX:19870648
|
C | A | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4+16659G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19870648 | ||||||
| chrX:19871079
|
A | G | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+16228T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19871079 | ||||||
| chrX:19871822
|
C | T | 1 | a0001c0003t0013g0068 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4+15485G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19871822 | ||||||
| chrX:19871965
|
A | T | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+15342T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19871965 | ||||||
| chrX:19872208
|
C | T | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4+15099G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872208 | ||||||
| chrX:19872252
|
CA | C | 124 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0014others(121): Show | 124 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(121): Show |
intron_variant | MODIFIER | c.4+15054delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872252 | ||||||
| chrX:19872252
|
CAA | C | 9 | a0001c0001t0001g0133a0001c0002t0001g0179a0001c0002t0002g0178others(6): Show | 9 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+15053_4+15054del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872252 | ||||||
| chrX:19872252
|
CAAAA | C | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.4+15051_4+15054del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872252 | ||||||
| chrX:19872252
|
CAAAAA | C | 8 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(5): Show | 8 | HG01243.hp1 HG01975.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+15050_4+15054del others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872252 | ||||||
| chrX:19872268
|
AAAAAAG | A | 4 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0046others(1): Show | 4 | HG00639.hp2 HG01515.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.4+15033_4+15038del others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872268 | ||||||
| chrX:19872269
|
AAAAAG | A | 31 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0026others(28): Show | 31 | HG01070.hp2 HG01071.hp2 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.4+15033_4+15037del others(5): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872269 | ||||||
| chrX:19872270
|
A | AAAG | 1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4+15036_4+15037ins others(3): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872270 | ||||||
| chrX:19872270
|
A | AAG | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4+15036_4+15037ins others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872270 | ||||||
| chrX:19872270
|
AAAAG | A | 18 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(15): Show | 18 | HG00733.hp1 HG01070.hp1 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.4+15033_4+15036del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872270 | ||||||
| chrX:19872270
|
AAAAGAAA others(1): Show |
A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4+15029_4+15036del others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872270 | ||||||
| chrX:19872313
|
C | A | 1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.4+14994G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872313 | ||||||
| chrX:19872448
|
C | T | 1 | a0001c0001t0001g0174 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4+14859G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872448 | ||||||
| chrX:19872509
|
C | T | 1 | a0001c0001t0001g0159 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4+14798G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872509 | ||||||
| chrX:19872553
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4+14754G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872553 | ||||||
| chrX:19872605
|
G | A | 25 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0181others(22): Show | 25 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.4+14702C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872605 | ||||||
| chrX:19872606
|
C | T | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | HG02559.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4+14701G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872606 | ||||||
| chrX:19872607
|
T | TA | 2 | a0001c0001t0001g0125a0001c0003t0013g0068 | 2 | HG03486.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.4+14699dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872607 | ||||||
| chrX:19872667
|
T | G | 1 | a0001c0003t0001g0051 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.4+14640A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872667 | ||||||
| chrX:19872694
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+14613A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872694 | ||||||
| chrX:19872724
|
C | T | 3 | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0140 | 3 | NA18943.hp1 NA18960.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.4+14583G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872724 | ||||||
| chrX:19872773
|
C | CA | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4+14533dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872773 | ||||||
| chrX:19872812
|
T | TTC | 9 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(6): Show | 9 | HG00733.hp1 HG02451.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.4+14493_4+14494dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872812 | ||||||
| chrX:19872812
|
T | TTCTCTC | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+14489_4+14494dup others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872812 | ||||||
| chrX:19872833
|
T | TCA | 13 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0022others(10): Show | 13 | HG01106.hp1 HG01517.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.4+14472_4+14473dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
T | TCACA | 12 | a0001c0001t0001g0050a0001c0001t0001g0140a0001c0001t0001g0194others(9): Show | 12 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.4+14470_4+14473dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
T | TCACACA | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4+14468_4+14473dup others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
T | TCTCA | 2 | a0001c0001t0001g0175a0001c0001t0001g0181 | 2 | HG02723.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.4+14473_4+14474ins others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
T | TCTCTCA | 4 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0003g0057others(1): Show | 4 | HG01109.hp1 HG01496.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4+14473_4+14474ins others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
T | TCTCTCAC others(1): Show |
1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4+14473_4+14474ins others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872833
|
TCACACA | T | 3 | a0001c0001t0001g0053a0001c0003t0013g0068a0001c0006t0001g0054 | 3 | HG03041.hp1 HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4+14468_4+14473del others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872833 | ||||||
| chrX:19872835
|
A | T | 25 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(22): Show | 25 | HG00673.hp1 HG00733.hp1 HG01123.hp1 others(22): Show |
intron_variant | MODIFIER | c.4+14472T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872835 | ||||||
| chrX:19872841
|
A | T | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4+14466T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19872841 | ||||||
| chrX:19873168
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4+14139G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873168 | ||||||
| chrX:19873273
|
CAT | C | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4+14032_4+14033del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873273 | ||||||
| chrX:19873273
|
CATATATA others(11): Show |
C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+14016_4+14033del others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873273 | ||||||
| chrX:19873273
|
CATATATA others(13): Show |
C | 1 | a0001c0001t0001g0161 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4+14014_4+14033del others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873273 | ||||||
| chrX:19873273
|
CATATATA others(17): Show |
C | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4+14010_4+14033del others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873273 | ||||||
| chrX:19873276
|
ATATATAT others(7): Show |
A | 1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4+14017_4+14030del others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873276 | ||||||
| chrX:19873278
|
ATATATAT others(5): Show |
A | 5 | a0001c0001t0001g0191a0001c0002t0001g0179a0001c0002t0002g0178others(2): Show | 5 | HG01496.hp1 HG02615.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.4+14017_4+14028del others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873278 | ||||||
| chrX:19873280
|
ATATATAT others(3): Show |
A | 3 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189 | 3 | HG02630.hp1 HG02897.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4+14017_4+14026del others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873280 | ||||||
| chrX:19873284
|
A | ATACG | 1 | a0001c0001t0001g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4+14022_4+14023ins others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873284 | ||||||
| chrX:19873286
|
A | ACG | 10 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(7): Show | 10 | HG01975.hp1 HG02257.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.4+14020_4+14021ins others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873286 | ||||||
| chrX:19873286
|
A | ACGTATAT others(19): Show |
1 | a0001c0001t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4+14020_4+14021ins others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873286 | ||||||
| chrX:19873286
|
ATATG | A | 2 | a0001c0001t0001g0059a0001c0002t0012g0186 | 2 | HG01109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.4+14017_4+14020del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873286 | ||||||
| chrX:19873287
|
T | C | 16 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.4+14020A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873287 | ||||||
| chrX:19873288
|
A | G | 16 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.4+14019T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873288 | ||||||
| chrX:19873289
|
T | C | 1 | a0001c0001t0001g0029 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4+14018A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873289 | ||||||
| chrX:19873290
|
G | A | 28 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(25): Show | 28 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.4+14017C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873290 | ||||||
| chrX:19873290
|
G | GTA | 6 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0065others(3): Show | 6 | HG01891.hp2 HG01952.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.4+14015_4+14016dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873290 | ||||||
| chrX:19873290
|
G | GTATA | 2 | a0001c0001t0007g0127a0001c0003t0004g0180 | 2 | NA19009.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.4+14013_4+14016dup others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873290 | ||||||
| chrX:19873290
|
GTA | G | 17 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 17 | HG00733.hp1 HG01070.hp1 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.4+14015_4+14016del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873290 | ||||||
| chrX:19873292
|
A | G | 1 | a0001c0001t0001g0097 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4+14015T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873292 | ||||||
| chrX:19873300
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.4+14007T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873300 | ||||||
| chrX:19873309
|
T | C | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.4+13998A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873309 | ||||||
| chrX:19873311
|
T | C | 3 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0021 | 3 | HG02809.hp1 HG02818.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4+13996A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873311 | ||||||
| chrX:19873313
|
C | T | 12 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0003g0057others(9): Show | 12 | HG01496.hp1 HG02451.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.4+13994G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873313 | ||||||
| chrX:19873313
|
CATAT | C | 1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4+13990_4+13993del others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873313 | ||||||
| chrX:19873329
|
C | T | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.4+13978G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873329 | ||||||
| chrX:19873351
|
A | G | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.4+13956T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873351 | ||||||
| chrX:19873496
|
C | T | 8 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(5): Show | 8 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+13811G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873496 | ||||||
| chrX:19873620
|
C | T | 1 | a0001c0001t0001g0151 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.4+13687G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873620 | ||||||
| chrX:19873899
|
A | G | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4+13408T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873899 | ||||||
| chrX:19873954
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+13353G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19873954 | ||||||
| chrX:19874048
|
CA | C | 120 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(117): Show | 120 | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(117): Show |
intron_variant | MODIFIER | c.4+13258delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874048 | ||||||
| chrX:19874048
|
CAA | C | 19 | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0019others(16): Show | 19 | HG00738.hp1 HG01243.hp1 HG01256.hp1 others(16): Show |
intron_variant | MODIFIER | c.4+13257_4+13258del others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874048 | ||||||
| chrX:19874064
|
A | AT | 2 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.4+13242_4+13243ins others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874064 | ||||||
| chrX:19874064
|
A | T | 9 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(6): Show | 9 | HG00639.hp2 HG01123.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+13243T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874064 | ||||||
| chrX:19874066
|
A | AAT | 2 | a0001c0001t0001g0012a0001c0009t0002g0009 | 2 | HG01070.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.4+13240_4+13241ins others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874066 | ||||||
| chrX:19874066
|
A | AT | 1 | a0001c0001t0001g0006 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4+13240_4+13241ins others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874066 | ||||||
| chrX:19874066
|
A | T | 34 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0024others(31): Show | 34 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.4+13241T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874066 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(37): Show |
2 | a0001c0001t0001g0165a0005c0007t0001g0166 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(44): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(44): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(51): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(30): Show |
3 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170 | 3 | HG03209.hp1 HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(36): Show |
1 | a0001c0001t0001g0167 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(43): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(9): Show |
1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(33): Show |
2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(40): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(21): Show |
1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(29): Show |
2 | a0001c0001t0001g0052a0001c0003t0001g0051 | 2 | HG01106.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(36): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(18): Show |
1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(25): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(26): Show |
1 | a0001c0003t0001g0049 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(33): Show |
1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(40): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(4): Show |
1 | a0001c0001t0001g0007 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(11): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(24): Show |
1 | a0001c0001t0009g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(31): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(5): Show |
1 | a0001c0001t0001g0010 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(12): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAA others(31): Show |
1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(38): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAAAT others(26): Show |
3 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0010t0001g0199 | 3 | HG01070.hp2 HG01071.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAAATA others(3): Show |
1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAATAT | 1 | a0001c0002t0001g0179 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAATAT others(2): Show |
6 | a0001c0002t0002g0178a0001c0002t0002g0187a0001c0002t0002g0188others(3): Show | 6 | HG02615.hp2 HG02630.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(9): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAATAT others(24): Show |
1 | a0001c0001t0001g0200 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(31): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAATAT others(30): Show |
1 | a0001c0001t0001g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAAAATAT others(36): Show |
1 | a0001c0001t0001g0201 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(43): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AAATATAT | 1 | a0001c0001t0001g0194 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(7): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AATATAT | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4+13233_4+13238dup others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | AT | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0160 | 3 | HG00642.hp1 HG03942.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.4+13238_4+13239ins others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | ATATATAT others(24): Show |
1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(31): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | ATATATAT others(30): Show |
1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4+13238_4+13239ins others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874068
|
A | T | 75 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.4+13239T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874068 | ||||||
| chrX:19874069
|
AT | A | 2 | a0001c0001t0001g0128a0001c0001t0001g0129 | 2 | HG02056.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.4+13237delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874069 | ||||||
| chrX:19874072
|
T | C | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.4+13235A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874072 | ||||||
| chrX:19874086
|
T | A | 2 | a0001c0001t0001g0005a0001c0001t0001g0059 | 2 | HG01109.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4+13221A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874086 | ||||||
| chrX:19874178
|
C | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+13129G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874178 | ||||||
| chrX:19874221
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+13086C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874221 | ||||||
| chrX:19874306
|
G | A | 1 | a0001c0009t0002g0009 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.4+13001C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874306 | ||||||
| chrX:19874412
|
T | C | 6 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(3): Show | 6 | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.4+12895A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874412 | ||||||
| chrX:19874447
|
T | TG | 110 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 110 | HG00639.hp2 HG00733.hp1 HG00738.hp1 others(107): Show |
intron_variant | MODIFIER | c.4+12859dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874447 | ||||||
| chrX:19874447
|
T | TGG | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4+12858_4+12859dup others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874447 | ||||||
| chrX:19874638
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.4+12669G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874638 | ||||||
| chrX:19874649
|
G | T | 1 | a0001c0001t0001g0078 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.4+12658C>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874649 | ||||||
| chrX:19874709
|
A | AG | 1 | a0001c0001t0001g0077 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.4+12597dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874709 | ||||||
| chrX:19874735
|
G | A | 7 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0144others(4): Show | 7 | HG00639.hp1 HG01928.hp1 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.4+12572C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19874735 | ||||||
| chrX:19875259
|
G | A | 5 | a0001c0001t0001g0059a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG01109.hp1 HG01496.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+12048C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19875259 | ||||||
| chrX:19875428
|
G | A | 12 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(9): Show | 12 | HG01243.hp1 HG01975.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.4+11879C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19875428 | ||||||
| chrX:19875619
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4+11688G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19875619 | ||||||
| chrX:19875690
|
A | G | 77 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(74): Show | 77 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(74): Show |
intron_variant | MODIFIER | c.4+11617T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19875690 | ||||||
| chrX:19876380
|
C | CA | 1 | a0002c0004t0001g0146 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.4+10926dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19876380 | ||||||
| chrX:19876380
|
CA | C | 2 | a0001c0001t0001g0161a0001c0001t0002g0003 | 2 | HG01891.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.4+10926delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19876380 | ||||||
| chrX:19876556
|
C | CG | 1 | a0001c0002t0012g0186 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4+10750dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19876556 | ||||||
| chrX:19876652
|
G | A | 9 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(6): Show | 9 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+10655C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19876652 | ||||||
| chrX:19877913
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4+9394C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19877913 | ||||||
| chrX:19878125
|
A | G | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4+9182T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878125 | ||||||
| chrX:19878301
|
C | CT | 67 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.4+9005dupA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878301 | ||||||
| chrX:19878366
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4+8941G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878366 | ||||||
| chrX:19878375
|
C | T | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.4+8932G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878375 | ||||||
| chrX:19878439
|
G | C | 24 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(21): Show | 24 | HG00733.hp1 HG01070.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.4+8868C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878439 | ||||||
| chrX:19878470
|
AT | A | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.4+8836delA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878470 | ||||||
| chrX:19878471
|
TTTG | T | 1 | a0001c0001t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4+8833_4+8835delCA others(1): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878471 | ||||||
| chrX:19878472
|
T | TGTGTGTG others(8): Show |
1 | a0001c0001t0001g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4+8834_4+8835insCA others(13): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
T | TTG | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0177others(1): Show | 4 | HG02135.hp1 HG02145.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.4+8833_4+8834dupCA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
T | TTGTG | 2 | a0001c0003t0001g0051a0001c0003t0004g0180 | 2 | HG01106.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.4+8831_4+8834dupCA others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
T | TTGTGTGT others(1): Show |
2 | a0001c0002t0001g0179a0001c0002t0002g0202 | 2 | HG03540.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.4+8827_4+8834dupCA others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
T | TTGTGTGT others(3): Show |
5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+8825_4+8834dupCA others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
T | TTGTGTGT others(5): Show |
1 | a0001c0002t0002g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4+8823_4+8834dupCA others(10): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
TTG | T | 86 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(83): Show | 86 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.4+8833_4+8834delCA | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878472
|
TTGTGTG | T | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 5 | HG01099.hp1 HG01123.hp2 HG01358.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+8829_4+8834delCA others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878472 | ||||||
| chrX:19878503
|
TGTGAGA | T | 1 | a0001c0001t0001g0070 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.4+8798_4+8803delTC others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878503 | ||||||
| chrX:19878503
|
TGTGAGAG others(3): Show |
T | 1 | a0001c0001t0001g0069 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4+8794_4+8803delTC others(8): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878503 | ||||||
| chrX:19878505
|
T | A | 1 | a0001c0001t0001g0174 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4+8802A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGA | 2 | a0001c0001t0001g0161a0001c0001t0002g0003 | 2 | HG01891.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.4+8800_4+8801dupTC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGAGAGA | 1 | a0001c0001t0001g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4+8796_4+8801dupTC others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGA | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+8801_4+8802insTC others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(11): Show |
1 | a0001c0001t0001g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4+8801_4+8802insTC others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(9): Show |
2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+8801_4+8802insTC others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(13): Show |
1 | a0001c0001t0001g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4+8801_4+8802insTC others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(11): Show |
1 | a0001c0001t0001g0059 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4+8801_4+8802insTC others(16): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(13): Show |
2 | a0001c0001t0001g0194a0001c0001t0009g0193 | 2 | HG01884.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.4+8801_4+8802insTC others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(15): Show |
2 | a0001c0001t0001g0200a0001c0001t0001g0201 | 2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4+8801_4+8802insTC others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(13): Show |
2 | a0001c0001t0001g0181a0001c0003t0013g0068 | 2 | HG02886.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.4+8801_4+8802insTC others(18): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(15): Show |
1 | a0001c0001t0001g0195 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4+8801_4+8802insTC others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
T | TGTGTGTG others(17): Show |
3 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0010t0001g0199 | 3 | HG01070.hp2 HG01071.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.4+8801_4+8802insTC others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
TGA | T | 10 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0043others(7): Show | 10 | HG01074.hp1 HG01934.hp1 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.4+8800_4+8801delTC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
TGAGA | T | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(16): Show | 19 | HG00733.hp1 HG01070.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.4+8798_4+8801delTC others(2): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
TGAGAGA | T | 26 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(23): Show | 26 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.4+8796_4+8801delTC others(4): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878505
|
TGAGAGAG others(1): Show |
T | 5 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(2): Show | 5 | HG02559.hp2 HG02572.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+8794_4+8801delTC others(6): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878505 | ||||||
| chrX:19878507
|
A | T | 6 | a0001c0001t0001g0011a0001c0001t0001g0050a0001c0001t0001g0052others(3): Show | 6 | HG01106.hp1 HG02293.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.4+8800T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878507 | ||||||
| chrX:19878509
|
A | T | 11 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG01074.hp1 HG01106.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.4+8798T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878509 | ||||||
| chrX:19878511
|
A | T | 30 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(27): Show | 30 | HG00733.hp1 HG01070.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.4+8796T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878511 | ||||||
| chrX:19878513
|
A | T | 56 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(53): Show | 56 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(53): Show |
intron_variant | MODIFIER | c.4+8794T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878513 | ||||||
| chrX:19878515
|
A | T | 41 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0014others(38): Show | 41 | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(38): Show |
intron_variant | MODIFIER | c.4+8792T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878515 | ||||||
| chrX:19878517
|
A | T | 32 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0024others(29): Show | 32 | HG00639.hp2 HG01123.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.4+8790T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878517 | ||||||
| chrX:19878533
|
A | AG | 1 | a0001c0001t0003g0057 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4+8773_4+8774insC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19878533 | ||||||
| chrX:19879006
|
A | G | 86 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(83): Show |
intron_variant | MODIFIER | c.4+8301T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879006 | ||||||
| chrX:19879042
|
G | A | 10 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0001g0195others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.4+8265C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879042 | ||||||
| chrX:19879081
|
A | C | 2 | a0001c0001t0001g0165a0005c0007t0001g0166 | 2 | HG02451.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.4+8226T>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879081 | ||||||
| chrX:19879189
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4+8118C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879189 | ||||||
| chrX:19879202
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.4+8105C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879202 | ||||||
| chrX:19879349
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4+7958C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879349 | ||||||
| chrX:19879396
|
G | A | 1 | a0001c0006t0001g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4+7911C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879396 | ||||||
| chrX:19879630
|
TC | T | 1 | a0001c0001t0001g0067 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.4+7676delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879630 | ||||||
| chrX:19879937
|
C | CG | 1 | a0001c0001t0010g0004 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.4+7369dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19879937 | ||||||
| chrX:19880031
|
C | T | 4 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG01934.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.4+7276G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880031 | ||||||
| chrX:19880306
|
T | C | 1 | a0001c0001t0001g0171 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4+7001A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880306 | ||||||
| chrX:19880310
|
G | A | 2 | a0001c0001t0001g0163a0001c0001t0001g0164 | 2 | NA18944.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.4+6997C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880310 | ||||||
| chrX:19880352
|
T | C | 61 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(58): Show | 61 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.4+6955A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880352 | ||||||
| chrX:19880431
|
T | C | 3 | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174 | 3 | HG02602.hp1 HG03710.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.4+6876A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880431 | ||||||
| chrX:19880539
|
T | A | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4+6768A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880539 | ||||||
| chrX:19880546
|
T | TA | 9 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+6760dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880546 | ||||||
| chrX:19880764
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4+6543C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880764 | ||||||
| chrX:19880980
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+6327A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19880980 | ||||||
| chrX:19881211
|
G | A | 1 | a0001c0001t0001g0176 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.4+6096C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19881211 | ||||||
| chrX:19881487
|
C | A | 1 | a0001c0001t0001g0201 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4+5820G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19881487 | ||||||
| chrX:19881689
|
C | T | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+5618G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19881689 | ||||||
| chrX:19882316
|
A | T | 2 | a0001c0002t0002g0178a0001c0002t0002g0202 | 2 | HG02615.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.4+4991T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19882316 | ||||||
| chrX:19882597
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4+4710C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19882597 | ||||||
| chrX:19882709
|
G | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0003t0001g0049others(1): Show | 4 | HG01106.hp1 HG02630.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.4+4598C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19882709 | ||||||
| chrX:19882743
|
T | C | 8 | a0001c0002t0001g0179a0001c0002t0002g0178a0001c0002t0002g0187others(5): Show | 8 | HG02559.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.4+4564A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19882743 | ||||||
| chrX:19882927
|
C | A | 9 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(6): Show | 9 | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+4380G>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19882927 | ||||||
| chrX:19883014
|
T | C | 2 | a0001c0001t0001g0053a0001c0006t0001g0054 | 2 | HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4+4293A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19883014 | ||||||
| chrX:19883070
|
G | A | 1 | a0001c0003t0004g0180 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.4+4237C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19883070 | ||||||
| chrX:19883247
|
T | G | 1 | a0001c0001t0001g0181 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4+4060A>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19883247 | ||||||
| chrX:19884184
|
C | T | 3 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG00733.hp2 HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.4+3123G>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19884184 | ||||||
| chrX:19884339
|
A | T | 3 | a0001c0001t0001g0059a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | HG01109.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4+2968T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19884339 | ||||||
| chrX:19884534
|
T | C | 2 | a0001c0001t0001g0182a0001c0001t0001g0183 | 2 | HG00280.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.4+2773A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19884534 | ||||||
| chrX:19885083
|
A | T | 20 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(17): Show | 20 | HG00733.hp1 HG01070.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4+2224T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885083 | ||||||
| chrX:19885119
|
TA | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.4+2187delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885119 | ||||||
| chrX:19885569
|
T | C | 1 | a0001c0001t0005g0001 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.4+1738A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885569 | ||||||
| chrX:19885605
|
G | A | 2 | a0001c0001t0001g0184a0001c0001t0001g0185 | 2 | HG00621.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.4+1702C>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885605 | ||||||
| chrX:19885786
|
T | C | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG01975.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4+1521A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885786 | ||||||
| chrX:19885795
|
TC | T | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.4+1511delG | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885795 | ||||||
| chrX:19885873
|
A | G | 57 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(54): Show | 57 | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(54): Show |
intron_variant | MODIFIER | c.4+1434T>C | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885873 | ||||||
| chrX:19885923
|
A | T | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+1384T>A | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885923 | ||||||
| chrX:19885941
|
C | CA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.4+1365dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19885941 | ||||||
| chrX:19886020
|
G | GA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.4+1286dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886020 | ||||||
| chrX:19886020
|
GA | G | 1 | a0001c0001t0001g0002 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.4+1286delT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886020 | ||||||
| chrX:19886127
|
G | C | 5 | a0001c0002t0002g0187a0001c0002t0002g0188a0001c0002t0002g0189others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.4+1180C>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886127 | ||||||
| chrX:19886263
|
T | C | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG01496.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4+1044A>G | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886263 | ||||||
| chrX:19886708
|
T | A | 9 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.4+599A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886708 | ||||||
| chrX:19886977
|
T | A | 1 | a0001c0002t0002g0202 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4+330A>T | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886977 | ||||||
| chrX:19886979
|
C | CA | 1 | a0001c0001t0001g0203 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.4+327dupT | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19886979 | ||||||
| chrX:19887155
|
T | TG | 1 | a0001c0001t0001g0204 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.4+151dupC | SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | 19887155 |