Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 728586 |
|---|---|
| ensemblid | ENSG00000230561.7 |
| hgncid | 49566 |
| symbol | CCDC192 |
| name | coiled-coil domain containing 192 |
| refseq_nuc | NM_001317938.2 |
| refseq_prot | NP_001304867.2 |
| ensembl_nuc | ENST00000514853.5 |
| ensembl_prot | ENSP00000490579.2 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 127703391 |
| end | 127941507 |
| strand | + |
| ver | v1.2 |
| region | chr5:127703391-127941507 |
| region5000 | chr5:127698391-127946507 |
| regionname0 | CCDC192_chr5_127703391_127941507 |
| regionname5000 | CCDC192_chr5_127698391_127946507 |
| 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 | 273 | 229 | 67 | 47 | 79 | 8 | 26 | 64 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0002 | 0/0 | 273 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0003 | 0/0 | 273 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0004 | 0/0 | 273 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| 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 | 822 | 211 | 51 | 46 | 78 | 8 | 26 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0002 | 0/0 | 822 | 14 | 13 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0003 | 0/0 | 822 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0004 | 0/0 | 822 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0005 | 0/0 | 822 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0006 | 0/0 | 822 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| c0007 | 0/0 | 822 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| 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 | 95 | 234 | 70 | 48 | 80 | 8 | 26 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| 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 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0033 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0163 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| 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 | 822 | 211 | 51 | 46 | 78 | 8 | 26 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0002 | 0/0 | 822 | 14 | 13 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0003 | 0/0 | 822 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0006 | 0/0 | 822 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0002c0005 | 0/0 | 822 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0003c0004 | 0/0 | 822 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0004c0007 | 0/0 | 822 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 916 | 211 | 51 | 46 | 78 | 8 | 26 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0002t0001 | 0/0 | 916 | 14 | 13 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0003t0001 | 0/0 | 916 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0001c0006t0001 | 0/0 | 916 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0002c0005t0001 | 0/0 | 916 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0003c0004t0001 | 0/0 | 916 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| a0004c0007t0001 | 0/0 | 916 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | copy fasta | chr5 | 127698391 | 127946507 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0033 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0163 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0002t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0003t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0003t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0003t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0001c0006t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0002c0005t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0002c0005t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0003c0004t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0003c0004t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| a0004c0007t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0153 | EUR | FIN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00597 | hp1 | a0004 | c0007 | t0001 | g0177 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00597 | hp2 | a0001 | c0006 | t0001 | g0124 | EAS | CHS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00642 | hp1 | a0001 | c0002 | t0001 | g0028 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0100 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0195 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01243 | hp1 | a0003 | c0004 | t0001 | g0089 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0108 | AMR | PUR | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0122 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0187 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0166 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0077 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0169 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0080 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0167 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0168 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0110 | AMR | CLM | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0018 | EUR | IBS | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01884 | hp1 | a0001 | c0002 | t0001 | g0036 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0231 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0180 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0223 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0204 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0181 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0095 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | KHV | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0205 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0099 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02258 | hp1 | a0001 | c0002 | t0001 | g0085 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0203 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PEL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0212 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0152 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02615 | hp2 | a0003 | c0004 | t0001 | g0093 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0120 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0172 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0046 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0233 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0023 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02886 | hp1 | a0002 | c0005 | t0001 | g0107 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0226 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02895 | hp1 | a0001 | c0002 | t0001 | g0086 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0144 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02896 | hp1 | a0001 | c0002 | t0001 | g0070 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02922 | hp2 | a0001 | c0003 | t0001 | g0091 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0143 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0202 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02976 | hp1 | a0001 | c0002 | t0001 | g0081 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0234 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0104 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03041 | hp2 | a0001 | c0003 | t0001 | g0090 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0199 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03130 | hp2 | a0001 | c0002 | t0001 | g0027 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0115 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0098 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03225 | hp2 | a0001 | c0002 | t0001 | g0037 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03486 | hp1 | a0001 | c0002 | t0001 | g0029 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0145 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0229 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0139 | SAS | PJL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03516 | hp1 | a0001 | c0003 | t0001 | g0092 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03516 | hp2 | a0001 | c0002 | t0001 | g0044 | AFR | ESN | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0097 | AFR | GWD | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0102 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0161 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0197 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0127 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0162 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0224 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0075 | SAS | BEB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0021 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0134 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0125 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0008 | SAS | STU | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0103 | AFR | YRI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | YRI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19030 | hp1 | a0002 | c0005 | t0001 | g0106 | AFR | LWK | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19030 | hp2 | a0001 | c0002 | t0001 | g0069 | AFR | LWK | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | YRI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA19240 | hp2 | a0001 | c0002 | t0001 | g0084 | AFR | YRI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0109 | EUR | TSI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0193 | EUR | TSI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0133 | EUR | TSI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0072 | EUR | TSI | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0105 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0056 | AFR | ACB | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG03471 | hp2 | a0001 | c0002 | t0001 | g0013 | AFR | MSL | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | USA | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | USA | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | LWK | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | LWK | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0163 | REF | REF | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0033 | REF | REF | CCDC192_chr5_127698391_127946507 | CCDC192 | chr5 | 127698391 | 127946507 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:127754289
|
C | G | 1 | a0002 | 2 | HG02886.hp1 NA19030.hp1 |
missense_variant | MODERATE | c.136C>G | p.Gln46Glu | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/7 | 191/916 | 136/822 | 46/273 | chr5 | 127754289 | ||
| chr5:127754296
|
C | T | 1 | a0003 | 2 | HG01243.hp1 HG02615.hp2 |
missense_variant | MODERATE | c.143C>T | p.Ala48Val | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/7 | 198/916 | 143/822 | 48/273 | chr5 | 127754296 | ||
| chr5:127754354
|
G | T | 1 | a0004 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.201G>T | p.Lys67Asn | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/7 | 256/916 | 201/822 | 67/273 | chr5 | 127754354 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:127754297
|
G | A | 1 | a0001c0003 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
synonymous_variant | LOW | c.144G>A | p.Ala48Ala | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/7 | 199/916 | 144/822 | 48/273 | chr5 | 127754297 | ||
| chr5:127754330
|
T | A | 1 | a0001c0006 | 1 | HG00597.hp2 | synonymous_variant | LOW | c.177T>A | p.Ile59Ile | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/7 | 232/916 | 177/822 | 59/273 | chr5 | 127754330 | ||
| chr5:127798159
|
C | T | 1 | a0001c0002 | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
synonymous_variant | LOW | c.408C>T | p.Ala136Ala | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/7 | 463/916 | 408/822 | 136/273 | chr5 | 127798159 |
| 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 |
|---|
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:127703612
|
A | G | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.62+105A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127703612 | ||||||
| chr5:127704049
|
G | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | HG00323.hp1 HG01516.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.62+542G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704049 | ||||||
| chr5:127704062
|
A | G | 34 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(31): Show | 34 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(31): Show |
intron_variant | MODIFIER | c.62+555A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704062 | ||||||
| chr5:127704118
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.62+611G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704118 | ||||||
| chr5:127704281
|
C | T | 2 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | HG02698.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.62+774C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704281 | ||||||
| chr5:127704281
|
CG | C | 114 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(111): Show | 114 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(111): Show |
intron_variant | MODIFIER | c.62+777delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704281 | |||||
| chr5:127704309
|
C | T | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.62+802C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704309 | ||||||
| chr5:127704563
|
G | T | 1 | a0001c0001t0001g0147 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.62+1056G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704563 | ||||||
| chr5:127704795
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.62+1288C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704795 | ||||||
| chr5:127704796
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.62+1289G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704796 | ||||||
| chr5:127704834
|
A | G | 1 | a0001c0001t0001g0083 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.62+1327A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704834 | ||||||
| chr5:127704838
|
A | AAAAT | 10 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(7): Show | 10 | HG02056.hp1 HG02257.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.62+1376_62+1379dup others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704838 | |||||
| chr5:127704838
|
AAAAT | A | 60 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0076others(57): Show | 60 | HG00438.hp2 HG00597.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.62+1376_62+1379del others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704838 | |||||
| chr5:127704838
|
AAAATAAA others(1): Show |
A | 17 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(14): Show | 17 | HG01081.hp2 HG01891.hp2 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.62+1372_62+1379del others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704838 | |||||
| chr5:127704838
|
AAAATAAA others(5): Show |
A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.62+1368_62+1379del others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704838 | |||||
| chr5:127704838
|
AAAATAAA others(9): Show |
A | 46 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(43): Show | 46 | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(43): Show |
intron_variant | MODIFIER | c.62+1364_62+1379del others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127704838 | |||||
| chr5:127704883
|
A | C | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.62+1376A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704883 | ||||||
| chr5:127704920
|
C | A | 42 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(39): Show | 42 | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.62+1413C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127704920 | ||||||
| chr5:127705028
|
AT | A | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | HG02004.hp1 HG02148.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.62+1522delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705028 | ||||||
| chr5:127705039
|
C | T | 1 | a0002c0005t0001g0107 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.62+1532C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705039 | ||||||
| chr5:127705355
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.62+1848T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705355 | ||||||
| chr5:127705443
|
G | A | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.62+1936G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705443 | ||||||
| chr5:127705501
|
C | T | 1 | a0001c0001t0001g0155 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.62+1994C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705501 | ||||||
| chr5:127705564
|
A | G | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.62+2057A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705564 | ||||||
| chr5:127705582
|
A | G | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.62+2075A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705582 | ||||||
| chr5:127705598
|
A | G | 1 | a0001c0001t0001g0073 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.62+2091A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705598 | ||||||
| chr5:127705820
|
G | A | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.63-1889G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127705820 | ||||||
| chr5:127706047
|
CTAAG | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.63-1660_63-1657del others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127706047 | |||||
| chr5:127706146
|
CAT | C | 5 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(2): Show | 5 | HG02895.hp2 HG02922.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.63-1562_63-1561del others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706146 | ||||||
| chr5:127706373
|
A | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.63-1336A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706373 | ||||||
| chr5:127706472
|
C | T | 1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.63-1237C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706472 | ||||||
| chr5:127706525
|
G | GA | 55 | a0001c0001t0001g0011a0001c0001t0001g0088a0001c0001t0001g0108others(52): Show | 55 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.63-1162dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127706525 | |||||
| chr5:127706525
|
G | GAA | 30 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(27): Show | 30 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(27): Show |
intron_variant | MODIFIER | c.63-1163_63-1162dup others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127706525 | |||||
| chr5:127706525
|
GA | G | 7 | a0001c0001t0001g0010a0001c0001t0001g0072a0001c0001t0001g0098others(4): Show | 7 | HG01081.hp2 HG01167.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.63-1162delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127706525 | |||||
| chr5:127706586
|
G | A | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(148): Show | 151 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.63-1123G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706586 | ||||||
| chr5:127706720
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.63-989T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706720 | ||||||
| chr5:127706852
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.63-857A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127706852 | ||||||
| chr5:127707259
|
T | C | 1 | a0001c0001t0001g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.63-450T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707259 | ||||||
| chr5:127707263
|
C | T | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.63-446C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707263 | ||||||
| chr5:127707312
|
TAGAG | T | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.63-391_63-388delGA others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127707312 | |||||
| chr5:127707392
|
C | A | 2 | a0001c0001t0001g0156a0001c0001t0001g0157 | 2 | NA19000.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.63-317C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707392 | ||||||
| chr5:127707406
|
C | CT | 148 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(145): Show | 148 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.63-291dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | 127707406 | |||||
| chr5:127707514
|
C | A | 1 | a0001c0001t0001g0113 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.63-195C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707514 | ||||||
| chr5:127707515
|
G | A | 1 | a0001c0002t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.63-194G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707515 | ||||||
| chr5:127707639
|
C | T | 115 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 115 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(112): Show |
intron_variant | MODIFIER | c.63-70C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707639 | ||||||
| chr5:127707643
|
G | T | 1 | a0001c0001t0001g0187 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.63-66G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707643 | ||||||
| chr5:127707663
|
A | T | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(148): Show | 151 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.63-46A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707663 | ||||||
| chr5:127707692
|
T | C | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(148): Show | 151 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.63-17T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1/6 | chr5 | 127707692 | ||||||
| chr5:127707932
|
T | G | 1 | a0001c0001t0001g0014 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.114+172T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127707932 | ||||||
| chr5:127707960
|
G | A | 115 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 115 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(112): Show |
intron_variant | MODIFIER | c.114+200G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127707960 | ||||||
| chr5:127707989
|
A | G | 115 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 115 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(112): Show |
intron_variant | MODIFIER | c.114+229A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127707989 | ||||||
| chr5:127708050
|
G | A | 1 | a0001c0001t0001g0114 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.114+290G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708050 | ||||||
| chr5:127708071
|
C | T | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+311C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708071 | ||||||
| chr5:127708150
|
A | T | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+390A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708150 | ||||||
| chr5:127708229
|
C | T | 1 | a0001c0001t0001g0225 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.114+469C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708229 | ||||||
| chr5:127708312
|
G | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+552G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708312 | ||||||
| chr5:127708340
|
G | T | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+580G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708340 | ||||||
| chr5:127708602
|
G | A | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.114+842G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708602 | ||||||
| chr5:127708636
|
T | TAGCCA | 3 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0073 | 3 | HG01167.hp1 HG02004.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.114+879_114+883dup others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127708636 | |||||
| chr5:127708697
|
T | G | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.114+937T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708697 | ||||||
| chr5:127708889
|
G | A | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+1129G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708889 | ||||||
| chr5:127708892
|
A | T | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.114+1132A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127708892 | ||||||
| chr5:127709000
|
G | C | 4 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG00639.hp1 HG00735.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.114+1240G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709000 | ||||||
| chr5:127709102
|
G | GGAGA | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.114+1360_114+1363d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709102 | |||||
| chr5:127709118
|
A | AGG | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(110): Show | 113 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.114+1359_114+1360i others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709118 | |||||
| chr5:127709118
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.114+1358A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709118 | ||||||
| chr5:127709149
|
AAG | A | 51 | a0001c0001t0001g0071a0001c0001t0001g0100a0001c0001t0001g0148others(48): Show | 51 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.114+1400_114+1401d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709149 | |||||
| chr5:127709181
|
GGGAGAGA others(3): Show |
G | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.114+1431_114+1440d others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709181 | |||||
| chr5:127709190
|
GTGGAGAG others(7): Show |
G | 1 | a0001c0001t0001g0233 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.114+1431_114+1444d others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709190 | ||||||
| chr5:127709191
|
T | G | 1 | a0001c0001t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.114+1431T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709191 | ||||||
| chr5:127709198
|
A | AGG | 6 | a0001c0001t0001g0201a0001c0001t0001g0218a0001c0001t0001g0219others(3): Show | 6 | HG02132.hp1 NA18961.hp2 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.114+1442_114+1443d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709198 | |||||
| chr5:127709198
|
A | G | 4 | a0001c0001t0001g0108a0001c0001t0001g0202a0001c0002t0001g0081others(1): Show | 4 | HG01243.hp2 HG02615.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+1438A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709198 | ||||||
| chr5:127709200
|
GGGGAGAG others(19): Show |
G | 2 | a0001c0001t0001g0108a0003c0004t0001g0093 | 2 | HG01243.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+1442_114+1467d others(28): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709200 | |||||
| chr5:127709202
|
G | A | 2 | a0001c0001t0001g0208a0001c0002t0001g0081 | 2 | HG02976.hp1 NA18994.hp2 |
intron_variant | MODIFIER | c.114+1442G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709202 | ||||||
| chr5:127709202
|
G | GAGA | 3 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0072 | 3 | HG04199.hp2 NA18944.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.114+1442_114+1443i others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709202 | ||||||
| chr5:127709202
|
G | GGA | 19 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0017others(16): Show | 19 | HG00438.hp2 HG00639.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.114+1487_114+1488d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
G | GGAGA | 13 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0016others(10): Show | 13 | HG00735.hp1 HG00738.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.114+1485_114+1488d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
G | GGAGAGA | 4 | a0001c0001t0001g0009a0001c0001t0001g0066a0001c0001t0001g0067others(1): Show | 4 | HG01258.hp1 HG02148.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+1483_114+1488d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
G | GGAGAGAG others(3): Show |
4 | a0001c0001t0001g0005a0001c0001t0001g0068a0001c0001t0001g0071others(1): Show | 4 | HG02056.hp1 HG02135.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.114+1479_114+1488d others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
G | GGGGGGAG others(5): Show |
1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.114+1443_114+1444i others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
GGA | G | 13 | a0001c0001t0001g0011a0001c0001t0001g0026a0001c0001t0001g0030others(10): Show | 13 | HG00642.hp1 HG01069.hp2 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.114+1487_114+1488d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
GGAGA | G | 6 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | HG02809.hp2 HG02896.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.114+1485_114+1488d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709202
|
GGAGAGAG others(17): Show |
G | 112 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(109): Show | 112 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.114+1465_114+1488d others(26): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127709202 | |||||
| chr5:127709204
|
A | G | 16 | a0001c0001t0001g0201a0001c0001t0001g0214a0001c0001t0001g0215others(13): Show | 16 | HG02132.hp1 HG02896.hp1 HG03491.hp2 others(13): Show |
intron_variant | MODIFIER | c.114+1444A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709204 | ||||||
| chr5:127709206
|
A | G | 3 | a0001c0001t0001g0200a0001c0001t0001g0217a0001c0001t0001g0233 | 3 | HG02717.hp2 NA18962.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.114+1446A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709206 | ||||||
| chr5:127709208
|
A | G | 1 | a0001c0001t0001g0200 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.114+1448A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709208 | ||||||
| chr5:127709248
|
A | AGAG | 2 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | NA18977.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.114+1488_114+1489i others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709248 | ||||||
| chr5:127709386
|
G | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+1626G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709386 | ||||||
| chr5:127709399
|
G | A | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+1639G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709399 | ||||||
| chr5:127709478
|
T | C | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.114+1718T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709478 | ||||||
| chr5:127709919
|
A | G | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+2159A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709919 | ||||||
| chr5:127709920
|
G | T | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.114+2160G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709920 | ||||||
| chr5:127709939
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.114+2179C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127709939 | ||||||
| chr5:127710101
|
T | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.114+2341T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710101 | ||||||
| chr5:127710229
|
T | C | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+2469T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710229 | ||||||
| chr5:127710237
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+2477C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710237 | ||||||
| chr5:127710238
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+2478G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710238 | ||||||
| chr5:127710314
|
C | G | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+2554C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710314 | ||||||
| chr5:127710318
|
T | C | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+2558T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710318 | ||||||
| chr5:127710375
|
G | T | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.114+2615G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710375 | ||||||
| chr5:127710643
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.114+2883G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710643 | ||||||
| chr5:127710682
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+2922C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710682 | ||||||
| chr5:127710869
|
A | C | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.114+3109A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127710869 | ||||||
| chr5:127711036
|
T | A | 118 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.114+3276T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711036 | ||||||
| chr5:127711089
|
G | A | 2 | a0001c0001t0001g0158a0001c0001t0001g0159 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.114+3329G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711089 | ||||||
| chr5:127711285
|
A | G | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.114+3525A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711285 | ||||||
| chr5:127711379
|
A | T | 83 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(80): Show |
intron_variant | MODIFIER | c.114+3619A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711379 | ||||||
| chr5:127711438
|
A | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+3678A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711438 | ||||||
| chr5:127711762
|
A | C | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.114+4002A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711762 | ||||||
| chr5:127711763
|
T | C | 1 | a0001c0001t0001g0156 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.114+4003T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711763 | ||||||
| chr5:127711849
|
C | T | 1 | a0001c0001t0001g0197 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.114+4089C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711849 | ||||||
| chr5:127711941
|
T | C | 2 | a0001c0001t0001g0094a0001c0001t0001g0202 | 2 | HG02818.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.114+4181T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711941 | ||||||
| chr5:127711981
|
T | A | 118 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.114+4221T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127711981 | ||||||
| chr5:127712014
|
A | G | 118 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.114+4254A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712014 | ||||||
| chr5:127712066
|
A | G | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+4306A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712066 | ||||||
| chr5:127712088
|
C | T | 5 | a0001c0001t0001g0046a0001c0003t0001g0090a0001c0003t0001g0091others(2): Show | 5 | HG01243.hp1 HG02717.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+4328C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712088 | ||||||
| chr5:127712181
|
T | C | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+4421T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712181 | ||||||
| chr5:127712207
|
G | A | 2 | a0001c0001t0001g0200a0001c0001t0001g0218 | 2 | NA18962.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.114+4447G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712207 | ||||||
| chr5:127712340
|
G | A | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+4580G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712340 | ||||||
| chr5:127712425
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+4665C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712425 | ||||||
| chr5:127712427
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.114+4667T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712427 | ||||||
| chr5:127712476
|
T | G | 3 | a0001c0001t0001g0088a0001c0001t0001g0108a0003c0004t0001g0093 | 3 | HG01243.hp2 HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+4716T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712476 | ||||||
| chr5:127712508
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.114+4748G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712508 | ||||||
| chr5:127712819
|
G | A | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+5059G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127712819 | ||||||
| chr5:127713032
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.114+5272C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713032 | ||||||
| chr5:127713139
|
T | C | 119 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(116): Show | 119 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(116): Show |
intron_variant | MODIFIER | c.114+5379T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713139 | ||||||
| chr5:127713221
|
C | T | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+5461C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713221 | ||||||
| chr5:127713249
|
T | A | 61 | a0001c0001t0001g0087a0001c0001t0001g0094a0001c0001t0001g0101others(58): Show | 61 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.114+5489T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713249 | ||||||
| chr5:127713256
|
G | A | 230 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(227): Show | 230 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(227): Show |
intron_variant | MODIFIER | c.114+5496G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713256 | ||||||
| chr5:127713402
|
A | C | 2 | a0001c0001t0001g0108a0003c0004t0001g0093 | 2 | HG01243.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+5642A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713402 | ||||||
| chr5:127713502
|
G | C | 119 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(116): Show | 119 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(116): Show |
intron_variant | MODIFIER | c.114+5742G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713502 | ||||||
| chr5:127713630
|
G | T | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+5870G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713630 | ||||||
| chr5:127713634
|
G | A | 3 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0047 | 3 | HG00738.hp1 HG01069.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.114+5874G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713634 | ||||||
| chr5:127713966
|
C | T | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+6206C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713966 | ||||||
| chr5:127713979
|
C | T | 83 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(80): Show |
intron_variant | MODIFIER | c.114+6219C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127713979 | ||||||
| chr5:127714182
|
T | C | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.114+6422T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714182 | ||||||
| chr5:127714236
|
C | T | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+6476C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714236 | ||||||
| chr5:127714296
|
C | T | 115 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 115 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.114+6536C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714296 | ||||||
| chr5:127714352
|
T | A | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+6592T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714352 | ||||||
| chr5:127714572
|
T | A | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.114+6812T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714572 | ||||||
| chr5:127714900
|
A | C | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.114+7140A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714900 | ||||||
| chr5:127714951
|
C | A | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.114+7191C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127714951 | ||||||
| chr5:127714972
|
G | GT | 184 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(181): Show | 184 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(181): Show |
intron_variant | MODIFIER | c.114+7222dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127714972 | |||||
| chr5:127714972
|
G | GTT | 7 | a0001c0001t0001g0045a0001c0001t0001g0108a0001c0001t0001g0190others(4): Show | 7 | HG01243.hp2 HG02040.hp2 HG02135.hp2 others(4): Show |
intron_variant | MODIFIER | c.114+7221_114+7222d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127714972 | |||||
| chr5:127715017
|
G | A | 1 | a0001c0001t0001g0155 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.114+7257G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715017 | ||||||
| chr5:127715096
|
C | A | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.114+7336C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715096 | ||||||
| chr5:127715192
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.114+7432C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715192 | ||||||
| chr5:127715303
|
T | C | 1 | a0001c0001t0001g0160 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.114+7543T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715303 | ||||||
| chr5:127715365
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.114+7605T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715365 | ||||||
| chr5:127715493
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.114+7733C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715493 | ||||||
| chr5:127715521
|
C | A | 1 | a0001c0001t0001g0021 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.114+7761C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715521 | ||||||
| chr5:127715521
|
C | G | 82 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(79): Show | 82 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.114+7761C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715521 | ||||||
| chr5:127715559
|
G | A | 116 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(113): Show | 116 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(113): Show |
intron_variant | MODIFIER | c.114+7799G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715559 | ||||||
| chr5:127715594
|
T | G | 116 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(113): Show | 116 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(113): Show |
intron_variant | MODIFIER | c.114+7834T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715594 | ||||||
| chr5:127715604
|
T | C | 7 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.114+7844T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715604 | ||||||
| chr5:127715649
|
T | C | 7 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(4): Show | 7 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+7889T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715649 | ||||||
| chr5:127715722
|
C | A | 18 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0206others(15): Show | 18 | HG00438.hp1 HG03927.hp2 NA18944.hp1 others(15): Show |
intron_variant | MODIFIER | c.114+7962C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715722 | ||||||
| chr5:127715881
|
T | C | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+8121T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715881 | ||||||
| chr5:127715897
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+8137G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127715897 | ||||||
| chr5:127716002
|
A | T | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+8242A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716002 | ||||||
| chr5:127716241
|
A | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+8481A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716241 | ||||||
| chr5:127716313
|
G | C | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.114+8553G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716313 | ||||||
| chr5:127716467
|
A | C | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.114+8707A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716467 | ||||||
| chr5:127716515
|
C | T | 3 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | NA18970.hp1 NA19010.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.114+8755C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716515 | ||||||
| chr5:127716525
|
T | A | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.114+8765T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716525 | ||||||
| chr5:127716700
|
A | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+8940A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716700 | ||||||
| chr5:127716834
|
A | G | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+9074A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716834 | ||||||
| chr5:127716875
|
C | T | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+9115C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127716875 | ||||||
| chr5:127717060
|
A | C | 119 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(116): Show | 119 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(116): Show |
intron_variant | MODIFIER | c.114+9300A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717060 | ||||||
| chr5:127717080
|
A | G | 1 | a0001c0001t0001g0138 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.114+9320A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717080 | ||||||
| chr5:127717099
|
C | G | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.114+9339C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717099 | ||||||
| chr5:127717207
|
G | A | 3 | a0001c0001t0001g0088a0001c0001t0001g0108a0003c0004t0001g0093 | 3 | HG01243.hp2 HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+9447G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717207 | ||||||
| chr5:127717245
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.114+9485A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717245 | ||||||
| chr5:127717467
|
GGTA | G | 72 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(69): Show | 72 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.114+9714_114+9716d others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127717467 | |||||
| chr5:127717471
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.114+9711G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717471 | ||||||
| chr5:127717861
|
A | G | 3 | a0001c0001t0001g0088a0001c0001t0001g0108a0003c0004t0001g0093 | 3 | HG01243.hp2 HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+10101A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717861 | ||||||
| chr5:127717928
|
C | CA | 74 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 74 | HG00438.hp2 HG00639.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.114+10185dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127717928 | |||||
| chr5:127717928
|
C | CAA | 9 | a0001c0001t0001g0014a0001c0001t0001g0032a0001c0002t0001g0023others(6): Show | 9 | HG00642.hp1 HG01169.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.114+10184_114+1018 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127717928 | |||||
| chr5:127717928
|
CA | C | 71 | a0001c0001t0001g0004a0001c0001t0001g0094a0001c0001t0001g0095others(68): Show | 71 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(68): Show |
intron_variant | MODIFIER | c.114+10185delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127717928 | |||||
| chr5:127717928
|
CAA | C | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.114+10184_114+1018 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127717928 | |||||
| chr5:127717931
|
A | T | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.114+10171A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127717931 | ||||||
| chr5:127718013
|
A | C | 1 | a0001c0001t0001g0183 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.114+10253A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718013 | ||||||
| chr5:127718244
|
T | A | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.114+10484T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718244 | ||||||
| chr5:127718327
|
C | T | 1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.114+10567C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718327 | ||||||
| chr5:127718409
|
A | T | 1 | a0001c0001t0001g0146 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.114+10649A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718409 | ||||||
| chr5:127718489
|
TGTGCTGT others(3): Show |
T | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+10736_114+1074 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127718489 | |||||
| chr5:127718586
|
T | G | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.114+10826T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718586 | ||||||
| chr5:127718829
|
A | C | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+11069A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127718829 | ||||||
| chr5:127719128
|
A | G | 83 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(80): Show |
intron_variant | MODIFIER | c.114+11368A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719128 | ||||||
| chr5:127719209
|
T | C | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.114+11449T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719209 | ||||||
| chr5:127719230
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.114+11470C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719230 | ||||||
| chr5:127719416
|
C | CAT | 14 | a0001c0001t0001g0114a0001c0001t0001g0135a0001c0001t0001g0136others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.114+11670_114+1167 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719416 | |||||
| chr5:127719416
|
CAT | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+11670_114+1167 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719416 | |||||
| chr5:127719428
|
T | C | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11668T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719428 | ||||||
| chr5:127719430
|
T | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0088a0001c0001t0001g0095others(9): Show | 12 | HG01081.hp2 HG01243.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.114+11670T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719430 | ||||||
| chr5:127719456
|
C | CAT | 106 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0094others(103): Show | 106 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.114+11704_114+1170 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719456 | |||||
| chr5:127719464
|
TACAG | T | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11708_114+1171 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719464 | |||||
| chr5:127719466
|
C | T | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+11706C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719466 | ||||||
| chr5:127719468
|
G | C | 82 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(79): Show | 82 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.114+11708G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719468 | ||||||
| chr5:127719470
|
C | G | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+11710C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719470 | ||||||
| chr5:127719470
|
C | T | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11710C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719470 | ||||||
| chr5:127719474
|
T | G | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11714T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719474 | ||||||
| chr5:127719476
|
CAT | C | 41 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0014others(38): Show | 41 | HG00738.hp1 HG00738.hp2 HG01069.hp2 others(38): Show |
intron_variant | MODIFIER | c.114+11734_114+1173 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719476 | |||||
| chr5:127719476
|
CATAT | C | 49 | a0001c0001t0001g0088a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+11732_114+1173 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719476 | |||||
| chr5:127719476
|
CATATAT | C | 8 | a0001c0001t0001g0148a0001c0001t0001g0199a0001c0001t0001g0222others(5): Show | 8 | HG01884.hp2 HG01993.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+11730_114+1173 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719476 | |||||
| chr5:127719478
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0095 | 2 | HG02055.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.114+11718T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719478 | ||||||
| chr5:127719488
|
T | TACACACA others(1): Show |
8 | a0001c0001t0001g0201a0001c0001t0001g0211a0001c0001t0001g0215others(5): Show | 8 | NA18944.hp1 NA18954.hp1 NA18975.hp2 others(5): Show |
intron_variant | MODIFIER | c.114+11729_114+1173 others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719488 | |||||
| chr5:127719490
|
T | C | 17 | a0001c0001t0001g0200a0001c0001t0001g0203a0001c0001t0001g0204others(14): Show | 17 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.114+11730T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719490 | ||||||
| chr5:127719492
|
T | C | 25 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(22): Show | 25 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(22): Show |
intron_variant | MODIFIER | c.114+11732T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719492 | ||||||
| chr5:127719494
|
T | C | 33 | a0001c0001t0001g0030a0001c0001t0001g0087a0001c0001t0001g0098others(30): Show | 33 | HG00438.hp1 HG01081.hp2 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.114+11734T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719494 | ||||||
| chr5:127719496
|
C | T | 10 | a0001c0001t0001g0056a0001c0001t0001g0201a0001c0001t0001g0211others(7): Show | 10 | HG02109.hp2 HG03486.hp1 NA18944.hp1 others(7): Show |
intron_variant | MODIFIER | c.114+11736C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719496 | ||||||
| chr5:127719498
|
C | T | 25 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(22): Show | 25 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(22): Show |
intron_variant | MODIFIER | c.114+11738C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719498 | ||||||
| chr5:127719500
|
C | CATATAT | 11 | a0001c0001t0001g0200a0001c0001t0001g0203a0001c0001t0001g0204others(8): Show | 11 | HG00438.hp1 HG02004.hp1 HG02148.hp2 others(8): Show |
intron_variant | MODIFIER | c.114+11741_114+1174 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719500 | |||||
| chr5:127719500
|
C | T | 9 | a0001c0001t0001g0201a0001c0001t0001g0211a0001c0001t0001g0215others(6): Show | 9 | NA18944.hp1 NA18954.hp1 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.114+11740C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719500 | ||||||
| chr5:127719502
|
C | T | 29 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100others(26): Show | 29 | HG00438.hp1 HG01081.hp2 HG01255.hp1 others(26): Show |
intron_variant | MODIFIER | c.114+11742C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719502 | ||||||
| chr5:127719504
|
T | C | 6 | a0001c0001t0001g0056a0001c0001t0001g0098a0001c0001t0001g0099others(3): Show | 6 | HG01081.hp2 HG01255.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.114+11744T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719504 | ||||||
| chr5:127719506
|
C | CAT | 5 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | HG03942.hp1 HG04204.hp2 NA19000.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+11764_114+1176 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719506 | |||||
| chr5:127719506
|
C | T | 31 | a0001c0001t0001g0056a0001c0001t0001g0098a0001c0001t0001g0099others(28): Show | 31 | HG00438.hp1 HG01081.hp2 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.114+11746C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719506 | ||||||
| chr5:127719506
|
CAT | C | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(91): Show |
intron_variant | MODIFIER | c.114+11764_114+1176 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719506 | |||||
| chr5:127719506
|
CATAT | C | 50 | a0001c0001t0001g0095a0001c0001t0001g0148a0001c0001t0001g0149others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.114+11762_114+1176 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719506 | |||||
| chr5:127719508
|
T | C | 2 | a0001c0001t0001g0056a0001c0002t0001g0029 | 2 | HG02109.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.114+11748T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719508 | ||||||
| chr5:127719516
|
T | C | 3 | a0001c0001t0001g0230a0001c0001t0001g0231a0001c0001t0001g0232 | 3 | HG01884.hp2 HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.114+11756T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719516 | ||||||
| chr5:127719522
|
T | C | 4 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0233others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.114+11762T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719522 | ||||||
| chr5:127719524
|
T | C | 93 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(90): Show | 93 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.114+11764T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719524 | ||||||
| chr5:127719524
|
TACAC | T | 2 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | HG01993.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.114+11768_114+1177 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719524 | |||||
| chr5:127719526
|
C | T | 11 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0206others(8): Show | 11 | HG00735.hp2 HG01884.hp2 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.114+11766C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719526 | ||||||
| chr5:127719528
|
C | CAT | 4 | a0001c0001t0001g0088a0001c0001t0001g0103a0001c0001t0001g0104others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.114+11769_114+1177 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719528 | |||||
| chr5:127719528
|
C | T | 12 | a0001c0001t0001g0108a0001c0001t0001g0199a0001c0001t0001g0206others(9): Show | 12 | HG01243.hp2 HG01884.hp2 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.114+11768C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719528 | ||||||
| chr5:127719530
|
C | T | 10 | a0001c0001t0001g0199a0001c0001t0001g0206a0001c0001t0001g0212others(7): Show | 10 | HG01884.hp2 HG01993.hp2 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.114+11770C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719530 | ||||||
| chr5:127719532
|
T | C | 23 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0200others(20): Show | 23 | HG00438.hp1 HG00735.hp2 HG02004.hp1 others(20): Show |
intron_variant | MODIFIER | c.114+11772T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719532 | ||||||
| chr5:127719534
|
C | CAT | 3 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0115 | 3 | HG03195.hp1 HG03209.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.114+11798_114+1179 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719534 | |||||
| chr5:127719534
|
C | CATACATA others(3): Show |
1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+11777_114+1177 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719534 | |||||
| chr5:127719534
|
C | CATATATA others(3): Show |
1 | a0001c0001t0001g0099 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.114+11790_114+1179 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719534 | |||||
| chr5:127719534
|
C | T | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0199others(7): Show | 10 | HG00735.hp2 HG01884.hp2 HG01993.hp2 others(7): Show |
intron_variant | MODIFIER | c.114+11774C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719534 | ||||||
| chr5:127719534
|
CAT | C | 7 | a0001c0001t0001g0123a0001c0001t0001g0143a0001c0001t0001g0144others(4): Show | 7 | HG00597.hp2 HG02895.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+11798_114+1179 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719534 | |||||
| chr5:127719536
|
T | C | 27 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0200others(24): Show | 27 | HG00438.hp1 HG00735.hp2 HG02004.hp1 others(24): Show |
intron_variant | MODIFIER | c.114+11776T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719536 | ||||||
| chr5:127719538
|
T | C | 109 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(106): Show | 109 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(106): Show |
intron_variant | MODIFIER | c.114+11778T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719538 | ||||||
| chr5:127719538
|
TATATATA others(23): Show |
T | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.114+11792_114+1182 others(34): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719538 | |||||
| chr5:127719540
|
T | C | 25 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(22): Show | 25 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(22): Show |
intron_variant | MODIFIER | c.114+11780T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719540 | ||||||
| chr5:127719540
|
TATATATA others(21): Show |
T | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+11794_114+1182 others(32): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719540 | |||||
| chr5:127719542
|
T | C | 25 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(22): Show | 25 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(22): Show |
intron_variant | MODIFIER | c.114+11782T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719542 | ||||||
| chr5:127719544
|
T | C | 24 | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0203others(21): Show | 24 | HG00438.hp1 HG02004.hp1 HG02071.hp1 others(21): Show |
intron_variant | MODIFIER | c.114+11784T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719544 | ||||||
| chr5:127719544
|
TATATATA others(17): Show |
T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.114+11798_114+1182 others(28): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719544 | |||||
| chr5:127719546
|
T | C | 10 | a0001c0001t0001g0206a0001c0001t0001g0207a0001c0001t0001g0209others(7): Show | 10 | HG02071.hp1 HG02132.hp1 HG02602.hp1 others(7): Show |
intron_variant | MODIFIER | c.114+11786T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719546 | ||||||
| chr5:127719548
|
T | C | 27 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(24): Show | 27 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(24): Show |
intron_variant | MODIFIER | c.114+11788T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719548 | ||||||
| chr5:127719548
|
TATATATA others(13): Show |
T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.114+11800_114+1181 others(24): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719548 | |||||
| chr5:127719550
|
T | C | 14 | a0001c0001t0001g0199a0001c0001t0001g0206a0001c0001t0001g0209others(11): Show | 14 | HG01884.hp2 HG01993.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.114+11790T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719550 | ||||||
| chr5:127719550
|
TATATATA others(11): Show |
T | 28 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(25): Show | 28 | HG00738.hp1 HG00738.hp2 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.114+11800_114+1181 others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719550 | |||||
| chr5:127719552
|
T | C | 12 | a0001c0001t0001g0199a0001c0001t0001g0206a0001c0001t0001g0212others(9): Show | 12 | HG01884.hp2 HG01993.hp2 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.114+11792T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719552 | ||||||
| chr5:127719552
|
TATATATA others(9): Show |
T | 4 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0060others(1): Show | 4 | HG01175.hp2 HG03831.hp2 NA19009.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11800_114+1181 others(20): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719552 | |||||
| chr5:127719554
|
T | C | 7 | a0001c0001t0001g0199a0001c0001t0001g0222a0001c0001t0001g0223others(4): Show | 7 | HG01884.hp2 HG01993.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+11794T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719554 | ||||||
| chr5:127719554
|
TATATACA others(7): Show |
T | 37 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(34): Show | 37 | HG00438.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.114+11800_114+1181 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719554 | |||||
| chr5:127719556
|
T | C | 11 | a0001c0001t0001g0199a0001c0001t0001g0206a0001c0001t0001g0212others(8): Show | 11 | HG01884.hp2 HG01993.hp2 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.114+11796T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719556 | ||||||
| chr5:127719556
|
TATACACA others(1): Show |
T | 2 | a0001c0003t0001g0091a0001c0003t0001g0092 | 2 | HG02922.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.114+11802_114+1180 others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719556 | |||||
| chr5:127719556
|
TATACACA others(5): Show |
T | 2 | a0001c0001t0001g0012a0001c0001t0001g0202 | 2 | HG02970.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.114+11800_114+1181 others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719556 | |||||
| chr5:127719558
|
T | C | 7 | a0001c0001t0001g0199a0001c0001t0001g0222a0001c0001t0001g0223others(4): Show | 7 | HG01884.hp2 HG01993.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+11798T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719558 | ||||||
| chr5:127719558
|
TAC | T | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0233others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+11804_114+1180 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719558 | |||||
| chr5:127719558
|
TACAC | T | 6 | a0001c0001t0001g0200a0001c0001t0001g0209a0001c0001t0001g0211others(3): Show | 6 | HG02886.hp1 NA18944.hp1 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.114+11802_114+1180 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719558 | |||||
| chr5:127719558
|
TACACAC | T | 14 | a0001c0001t0001g0201a0001c0001t0001g0203a0001c0001t0001g0204others(11): Show | 14 | HG00438.hp1 HG02004.hp1 HG02148.hp2 others(11): Show |
intron_variant | MODIFIER | c.114+11800_114+1180 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719558 | |||||
| chr5:127719558
|
TACACACA others(3): Show |
T | 3 | a0001c0001t0001g0096a0001c0001t0001g0105a0001c0001t0001g0207 | 3 | HG02109.hp1 HG02615.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.114+11800_114+1180 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719558 | |||||
| chr5:127719560
|
C | T | 22 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0097others(19): Show | 22 | HG01081.hp2 HG01243.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.114+11800C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719560 | ||||||
| chr5:127719562
|
C | T | 26 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0088others(23): Show | 26 | HG01081.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.114+11802C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719562 | ||||||
| chr5:127719564
|
C | CACATACA others(7): Show |
1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.114+11805_114+1180 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719564 | |||||
| chr5:127719564
|
C | T | 32 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0088others(29): Show | 32 | HG01081.hp2 HG01243.hp1 HG01243.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+11804C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719564 | ||||||
| chr5:127719568
|
C | CATATATA others(5): Show |
6 | a0001c0001t0001g0199a0001c0001t0001g0222a0001c0001t0001g0223others(3): Show | 6 | HG01884.hp2 HG01993.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.114+11810_114+1182 others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719568 | |||||
| chr5:127719568
|
C | T | 49 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0088others(46): Show | 49 | HG00438.hp1 HG01081.hp2 HG01243.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+11808C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719568 | ||||||
| chr5:127719576
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.114+11816T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719576 | ||||||
| chr5:127719580
|
T | C | 8 | a0001c0001t0001g0094a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.114+11820T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719580 | ||||||
| chr5:127719580
|
T | TAC | 2 | a0001c0001t0001g0087a0003c0004t0001g0089 | 2 | HG01243.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.114+11821_114+1182 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719580 | |||||
| chr5:127719829
|
A | AG | 11 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(8): Show | 11 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.114+12073dupG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719829 | |||||
| chr5:127719829
|
A | AGG | 33 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(30): Show | 33 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.114+12072_114+1207 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719829 | |||||
| chr5:127719829
|
A | AGGG | 14 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0178others(11): Show | 14 | HG01099.hp2 HG01175.hp1 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.114+12071_114+1207 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719829 | |||||
| chr5:127719830
|
G | GAGA | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+12070_114+1207 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719830 | ||||||
| chr5:127719830
|
G | GGC | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00735.hp1 others(63): Show |
intron_variant | MODIFIER | c.114+12071_114+1207 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719830 | |||||
| chr5:127719831
|
G | GA | 3 | a0001c0001t0001g0088a0001c0001t0001g0108a0003c0004t0001g0093 | 3 | HG01243.hp2 HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.114+12071_114+1207 others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719831 | ||||||
| chr5:127719831
|
G | GC | 15 | a0001c0001t0001g0030a0001c0001t0001g0226a0001c0001t0001g0233others(12): Show | 15 | HG00642.hp1 HG01884.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.114+12071_114+1207 others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719831 | ||||||
| chr5:127719832
|
G | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+12072G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719832 | ||||||
| chr5:127719832
|
G | GAT | 4 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092others(1): Show | 4 | HG01243.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+12072_114+1207 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719832 | ||||||
| chr5:127719833
|
G | GT | 4 | a0001c0001t0001g0094a0001c0002t0001g0084a0001c0002t0001g0085others(1): Show | 4 | HG02258.hp1 HG02818.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.114+12073_114+1207 others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719833 | ||||||
| chr5:127719834
|
C | CG | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+12079dupG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127719834 | |||||
| chr5:127719834
|
C | G | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.114+12074C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719834 | ||||||
| chr5:127719924
|
G | A | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+12164G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719924 | ||||||
| chr5:127719940
|
A | T | 1 | a0001c0001t0001g0063 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.114+12180A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719940 | ||||||
| chr5:127719975
|
C | A | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+12215C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127719975 | ||||||
| chr5:127720039
|
G | T | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+12279G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720039 | ||||||
| chr5:127720113
|
T | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+12353T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720113 | ||||||
| chr5:127720288
|
G | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.114+12528G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720288 | ||||||
| chr5:127720316
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.114+12556G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720316 | ||||||
| chr5:127720317
|
A | C | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+12557A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720317 | ||||||
| chr5:127720442
|
G | A | 1 | a0001c0001t0001g0178 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.114+12682G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720442 | ||||||
| chr5:127720649
|
G | T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.114+12889G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720649 | ||||||
| chr5:127720650
|
T | C | 1 | a0001c0001t0001g0212 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.114+12890T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720650 | ||||||
| chr5:127720683
|
T | G | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+12923T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720683 | ||||||
| chr5:127720715
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.114+12955C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720715 | ||||||
| chr5:127720791
|
C | T | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+13031C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720791 | ||||||
| chr5:127720851
|
T | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+13091T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720851 | ||||||
| chr5:127720906
|
T | C | 189 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(186): Show | 189 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.114+13146T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720906 | ||||||
| chr5:127720907
|
G | A | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.114+13147G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127720907 | ||||||
| chr5:127721015
|
A | G | 1 | a0001c0001t0001g0014 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.114+13255A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721015 | ||||||
| chr5:127721206
|
C | T | 115 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 115 | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.114+13446C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721206 | ||||||
| chr5:127721456
|
T | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+13696T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721456 | ||||||
| chr5:127721497
|
G | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+13737G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721497 | ||||||
| chr5:127721629
|
C | G | 2 | a0001c0001t0001g0213a0001c0001t0001g0221 | 2 | HG02071.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.114+13869C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721629 | ||||||
| chr5:127721696
|
A | G | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.114+13936A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721696 | ||||||
| chr5:127721861
|
G | C | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.114+14101G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127721861 | ||||||
| chr5:127722311
|
C | CT | 40 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(37): Show | 40 | HG00438.hp1 HG01884.hp2 HG01891.hp2 others(37): Show |
intron_variant | MODIFIER | c.114+14563dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127722311 | |||||
| chr5:127722382
|
T | C | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+14622T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722382 | ||||||
| chr5:127722409
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.114+14649T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722409 | ||||||
| chr5:127722423
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.114+14663G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722423 | ||||||
| chr5:127722941
|
G | A | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+15181G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722941 | ||||||
| chr5:127722955
|
C | T | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+15195C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722955 | ||||||
| chr5:127722956
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.114+15196G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722956 | ||||||
| chr5:127722964
|
C | A | 1 | a0001c0002t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.114+15204C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127722964 | ||||||
| chr5:127723194
|
G | T | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+15434G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723194 | ||||||
| chr5:127723327
|
ATTTG | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+15573_114+1557 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127723327 | |||||
| chr5:127723433
|
A | G | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(78): Show | 81 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(78): Show |
intron_variant | MODIFIER | c.114+15673A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723433 | ||||||
| chr5:127723478
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+15718G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723478 | ||||||
| chr5:127723562
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.114+15802A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723562 | ||||||
| chr5:127723579
|
A | C | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+15819A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723579 | ||||||
| chr5:127723736
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+15976C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723736 | ||||||
| chr5:127723765
|
T | A | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+16005T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723765 | ||||||
| chr5:127723866
|
G | C | 73 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(70): Show | 73 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(70): Show |
intron_variant | MODIFIER | c.114+16106G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723866 | ||||||
| chr5:127723939
|
A | C | 1 | a0001c0001t0001g0182 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.114+16179A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723939 | ||||||
| chr5:127723992
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.114+16232G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127723992 | ||||||
| chr5:127724219
|
A | G | 4 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092others(1): Show | 4 | HG01243.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+16459A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724219 | ||||||
| chr5:127724250
|
A | G | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+16490A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724250 | ||||||
| chr5:127724313
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+16553G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724313 | ||||||
| chr5:127724373
|
G | C | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+16613G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724373 | ||||||
| chr5:127724484
|
T | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.114+16724T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724484 | ||||||
| chr5:127724562
|
A | G | 2 | a0001c0001t0001g0109a0001c0001t0001g0137 | 2 | HG01256.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.114+16802A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724562 | ||||||
| chr5:127724601
|
A | G | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.114+16841A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724601 | ||||||
| chr5:127724621
|
C | T | 2 | a0001c0001t0001g0196a0003c0004t0001g0093 | 2 | HG02615.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.114+16861C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724621 | ||||||
| chr5:127724629
|
T | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+16869T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724629 | ||||||
| chr5:127724702
|
A | G | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.114+16942A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724702 | ||||||
| chr5:127724721
|
C | T | 4 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176others(1): Show | 4 | HG00597.hp1 NA18984.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+16961C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724721 | ||||||
| chr5:127724740
|
C | G | 1 | a0001c0001t0001g0060 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.114+16980C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724740 | ||||||
| chr5:127724770
|
A | C | 1 | a0001c0001t0001g0173 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.114+17010A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724770 | ||||||
| chr5:127724847
|
C | CA | 120 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(117): Show | 120 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(117): Show |
intron_variant | MODIFIER | c.114+17103dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127724847 | |||||
| chr5:127724847
|
C | CAA | 5 | a0001c0001t0001g0045a0001c0001t0001g0164a0001c0002t0001g0044others(2): Show | 5 | HG00642.hp2 HG02738.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.114+17102_114+1710 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127724847 | |||||
| chr5:127724847
|
C | CAAAAA | 25 | a0001c0001t0001g0199a0001c0001t0001g0201a0001c0001t0001g0203others(22): Show | 25 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(22): Show |
intron_variant | MODIFIER | c.114+17099_114+1710 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127724847 | |||||
| chr5:127724876
|
C | A | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+17116C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127724876 | ||||||
| chr5:127725037
|
G | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.114+17277G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725037 | ||||||
| chr5:127725074
|
A | G | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+17314A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725074 | ||||||
| chr5:127725117
|
A | G | 4 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070others(1): Show | 4 | HG02896.hp1 HG02976.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.114+17357A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725117 | ||||||
| chr5:127725179
|
G | A | 1 | a0001c0001t0001g0111 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.114+17419G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725179 | ||||||
| chr5:127725324
|
C | T | 54 | a0001c0001t0001g0094a0001c0001t0001g0148a0001c0001t0001g0149others(51): Show | 54 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.114+17564C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725324 | ||||||
| chr5:127725606
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.114+17846A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725606 | ||||||
| chr5:127725747
|
T | A | 1 | a0001c0001t0001g0135 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.114+17987T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725747 | ||||||
| chr5:127725933
|
GT | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.114+18174delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127725933 | ||||||
| chr5:127726022
|
A | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(7): Show | 10 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.114+18262A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726022 | ||||||
| chr5:127726048
|
T | C | 2 | a0001c0001t0001g0049a0001c0001t0001g0064 | 2 | NA18998.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.114+18288T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726048 | ||||||
| chr5:127726279
|
T | C | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+18519T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726279 | ||||||
| chr5:127726407
|
T | C | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+18647T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726407 | ||||||
| chr5:127726498
|
A | G | 78 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.114+18738A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726498 | ||||||
| chr5:127726651
|
C | G | 78 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(75): Show | 78 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.114+18891C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127726651 | ||||||
| chr5:127727013
|
C | T | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.114+19253C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727013 | ||||||
| chr5:127727069
|
C | T | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.114+19309C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727069 | ||||||
| chr5:127727112
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.114+19352C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727112 | ||||||
| chr5:127727245
|
A | G | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.114+19485A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727245 | ||||||
| chr5:127727328
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.114+19568C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727328 | ||||||
| chr5:127727348
|
T | A | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.114+19588T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727348 | ||||||
| chr5:127727417
|
A | C | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.114+19657A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727417 | ||||||
| chr5:127727421
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.114+19661G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727421 | ||||||
| chr5:127727471
|
T | A | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.114+19711T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727471 | ||||||
| chr5:127727479
|
G | GA | 31 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(28): Show | 31 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(28): Show |
intron_variant | MODIFIER | c.114+19729dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127727479 | |||||
| chr5:127727636
|
C | T | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+19876C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127727636 | ||||||
| chr5:127727858
|
TG | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(6): Show | 9 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.114+20100delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127727858 | |||||
| chr5:127728107
|
T | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.114+20347T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728107 | ||||||
| chr5:127728211
|
A | G | 1 | a0001c0001t0001g0022 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.114+20451A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728211 | ||||||
| chr5:127728275
|
T | A | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.114+20515T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728275 | ||||||
| chr5:127728342
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | HG02615.hp2 HG02717.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.114+20582A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728342 | ||||||
| chr5:127728376
|
T | C | 1 | a0001c0001t0001g0160 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.114+20616T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728376 | ||||||
| chr5:127728682
|
A | G | 50 | a0001c0001t0001g0088a0001c0001t0001g0148a0001c0001t0001g0149others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.114+20922A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728682 | ||||||
| chr5:127728774
|
C | T | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+21014C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728774 | ||||||
| chr5:127728964
|
T | TGCTGGAG others(4): Show |
1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21205_114+2120 others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127728964 | |||||
| chr5:127728970
|
G | A | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21210G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728970 | ||||||
| chr5:127728978
|
C | A | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21218C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728978 | ||||||
| chr5:127728989
|
C | A | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21229C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728989 | ||||||
| chr5:127728996
|
T | C | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21236T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127728996 | ||||||
| chr5:127729015
|
T | C | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21255T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729015 | ||||||
| chr5:127729016
|
C | T | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21256C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729016 | ||||||
| chr5:127729031
|
C | G | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21271C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729031 | ||||||
| chr5:127729031
|
C | T | 1 | a0001c0001t0001g0194 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.114+21271C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729031 | ||||||
| chr5:127729032
|
G | A | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21272G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729032 | ||||||
| chr5:127729033
|
A | C | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21273A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729033 | ||||||
| chr5:127729040
|
G | C | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21280G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729040 | ||||||
| chr5:127729059
|
A | T | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21299A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729059 | ||||||
| chr5:127729084
|
T | A | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21324T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729084 | ||||||
| chr5:127729122
|
G | T | 1 | a0001c0001t0001g0050 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.114+21362G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729122 | ||||||
| chr5:127729180
|
T | A | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.114+21420T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729180 | ||||||
| chr5:127729333
|
C | T | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.114+21573C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729333 | ||||||
| chr5:127729345
|
G | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+21585G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729345 | ||||||
| chr5:127729507
|
G | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+21747G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729507 | ||||||
| chr5:127729581
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.114+21821C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729581 | ||||||
| chr5:127729584
|
A | G | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.114+21824A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729584 | ||||||
| chr5:127729747
|
G | T | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.114+21987G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729747 | ||||||
| chr5:127729771
|
C | T | 1 | a0001c0001t0001g0228 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.114+22011C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729771 | ||||||
| chr5:127729942
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.114+22182G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127729942 | ||||||
| chr5:127730349
|
A | G | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.114+22589A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127730349 | ||||||
| chr5:127730501
|
A | G | 50 | a0001c0001t0001g0088a0001c0001t0001g0148a0001c0001t0001g0149others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.114+22741A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127730501 | ||||||
| chr5:127730606
|
G | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.114+22846G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127730606 | ||||||
| chr5:127730868
|
C | A | 1 | a0001c0001t0001g0099 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.114+23108C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127730868 | ||||||
| chr5:127731005
|
G | A | 2 | a0001c0001t0001g0148a0001c0001t0001g0154 | 2 | HG02300.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.114+23245G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127731005 | ||||||
| chr5:127731404
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.115-22864T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127731404 | ||||||
| chr5:127731512
|
C | G | 3 | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142 | 3 | HG00408.hp2 NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.115-22756C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127731512 | ||||||
| chr5:127731685
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.115-22583A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127731685 | ||||||
| chr5:127731689
|
T | G | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.115-22579T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127731689 | ||||||
| chr5:127732068
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.115-22200C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732068 | ||||||
| chr5:127732118
|
T | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-22150T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732118 | ||||||
| chr5:127732153
|
G | GA | 110 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(107): Show | 110 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(107): Show |
intron_variant | MODIFIER | c.115-22106dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127732153 | |||||
| chr5:127732186
|
A | G | 1 | a0001c0001t0001g0062 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.115-22082A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732186 | ||||||
| chr5:127732541
|
C | T | 1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.115-21727C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732541 | ||||||
| chr5:127732736
|
T | C | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-21532T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732736 | ||||||
| chr5:127732831
|
G | A | 1 | a0001c0001t0001g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.115-21437G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127732831 | ||||||
| chr5:127733055
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(6): Show | 9 | HG01891.hp2 HG02109.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.115-21213A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733055 | ||||||
| chr5:127733155
|
T | C | 1 | a0001c0001t0001g0138 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.115-21113T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733155 | ||||||
| chr5:127733207
|
C | T | 1 | a0001c0001t0001g0220 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.115-21061C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733207 | ||||||
| chr5:127733305
|
G | C | 1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.115-20963G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733305 | ||||||
| chr5:127733328
|
T | C | 2 | a0001c0001t0001g0165a0001c0001t0001g0171 | 2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.115-20940T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733328 | ||||||
| chr5:127733435
|
A | G | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-20833A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733435 | ||||||
| chr5:127733505
|
C | T | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.115-20763C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733505 | ||||||
| chr5:127733641
|
C | T | 1 | a0001c0001t0001g0031 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.115-20627C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733641 | ||||||
| chr5:127733693
|
C | A | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.115-20575C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733693 | ||||||
| chr5:127733747
|
C | G | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.115-20521C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733747 | ||||||
| chr5:127733768
|
T | A | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.115-20500T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733768 | ||||||
| chr5:127733795
|
C | T | 53 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(50): Show | 53 | HG00438.hp1 HG01081.hp2 HG01243.hp2 others(50): Show |
intron_variant | MODIFIER | c.115-20473C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733795 | ||||||
| chr5:127733808
|
C | T | 1 | a0001c0001t0001g0228 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.115-20460C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733808 | ||||||
| chr5:127733842
|
C | CT | 41 | a0001c0001t0001g0004a0001c0001t0001g0035a0001c0001t0001g0095others(38): Show | 41 | HG00438.hp1 HG01081.hp2 HG01884.hp2 others(38): Show |
intron_variant | MODIFIER | c.115-20413dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127733842 | |||||
| chr5:127733842
|
CT | C | 6 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0003t0001g0090others(3): Show | 6 | HG01243.hp1 HG02922.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.115-20413delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127733842 | |||||
| chr5:127733901
|
C | G | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.115-20367C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733901 | ||||||
| chr5:127733915
|
C | CTA | 3 | a0001c0001t0001g0096a0001c0001t0001g0165a0001c0001t0001g0203 | 3 | HG02273.hp2 HG03139.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.115-20337_115-2033 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127733915 | |||||
| chr5:127733929
|
A | AT | 8 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0047others(5): Show | 8 | HG00738.hp1 HG00738.hp2 HG01069.hp2 others(5): Show |
intron_variant | MODIFIER | c.115-20338dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127733929 | |||||
| chr5:127733929
|
A | G | 1 | a0001c0001t0001g0153 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.115-20339A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733929 | ||||||
| chr5:127733929
|
A | T | 3 | a0001c0001t0001g0055a0001c0001t0001g0087a0001c0002t0001g0044 | 3 | HG03209.hp2 HG03516.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.115-20339A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733929 | ||||||
| chr5:127733930
|
TA | T | 9 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(6): Show | 9 | HG01081.hp2 HG02257.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.115-20337delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733930 | ||||||
| chr5:127733931
|
A | T | 101 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(98): Show | 101 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(98): Show |
intron_variant | MODIFIER | c.115-20337A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733931 | ||||||
| chr5:127733933
|
T | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-20335T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127733933 | ||||||
| chr5:127734059
|
G | A | 41 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(38): Show | 41 | HG00438.hp1 HG01243.hp2 HG01884.hp2 others(38): Show |
intron_variant | MODIFIER | c.115-20209G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734059 | ||||||
| chr5:127734120
|
C | T | 1 | a0001c0001t0001g0228 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.115-20148C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734120 | ||||||
| chr5:127734187
|
T | C | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.115-20081T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734187 | ||||||
| chr5:127734283
|
T | C | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.115-19985T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734283 | ||||||
| chr5:127734365
|
GGAATAAT others(13173): Show |
G | 1 | a0001c0001t0001g0059 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.115-19862_115-6683 others(3): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127734365 | |||||
| chr5:127734376
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.115-19892G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734376 | ||||||
| chr5:127734559
|
C | A | 48 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.115-19709C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734559 | ||||||
| chr5:127734612
|
A | T | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-19656A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734612 | ||||||
| chr5:127734683
|
G | A | 2 | a0001c0001t0001g0057a0001c0001t0001g0065 | 2 | NA18977.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.115-19585G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734683 | ||||||
| chr5:127734702
|
T | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-19566T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734702 | ||||||
| chr5:127734770
|
G | A | 4 | a0001c0001t0001g0199a0001c0002t0001g0084a0001c0002t0001g0085others(1): Show | 4 | HG02258.hp1 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.115-19498G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734770 | ||||||
| chr5:127734806
|
T | C | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.115-19462T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734806 | ||||||
| chr5:127734807
|
G | A | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.115-19461G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734807 | ||||||
| chr5:127734824
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.115-19444T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127734824 | ||||||
| chr5:127735068
|
A | G | 8 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(5): Show | 8 | HG01243.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.115-19200A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735068 | ||||||
| chr5:127735095
|
G | C | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-19173G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735095 | ||||||
| chr5:127735154
|
A | G | 56 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0088others(53): Show | 56 | HG00438.hp1 HG01081.hp2 HG01243.hp2 others(53): Show |
intron_variant | MODIFIER | c.115-19114A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735154 | ||||||
| chr5:127735397
|
T | A | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-18871T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735397 | ||||||
| chr5:127735403
|
A | C | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-18865A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735403 | ||||||
| chr5:127735404
|
A | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-18864A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735404 | ||||||
| chr5:127735407
|
G | T | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-18861G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735407 | ||||||
| chr5:127735459
|
T | G | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(62): Show |
intron_variant | MODIFIER | c.115-18809T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735459 | ||||||
| chr5:127735469
|
T | G | 12 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(9): Show | 12 | HG01243.hp1 HG02258.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.115-18799T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735469 | ||||||
| chr5:127735479
|
C | G | 12 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(9): Show | 12 | HG01243.hp1 HG02258.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.115-18789C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735479 | ||||||
| chr5:127735497
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.115-18771G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735497 | ||||||
| chr5:127735526
|
T | C | 204 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(201): Show | 204 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(201): Show |
intron_variant | MODIFIER | c.115-18742T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735526 | ||||||
| chr5:127735596
|
T | C | 4 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-18672T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735596 | ||||||
| chr5:127735665
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.115-18603T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735665 | ||||||
| chr5:127735693
|
T | G | 53 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(50): Show | 53 | HG00438.hp1 HG01081.hp2 HG01243.hp2 others(50): Show |
intron_variant | MODIFIER | c.115-18575T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735693 | ||||||
| chr5:127735724
|
CTGTT | C | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-18540_115-1853 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127735724 | |||||
| chr5:127735748
|
A | G | 1 | a0001c0001t0001g0102 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.115-18520A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735748 | ||||||
| chr5:127735755
|
T | C | 1 | a0001c0001t0001g0102 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.115-18513T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735755 | ||||||
| chr5:127735837
|
A | G | 8 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.115-18431A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735837 | ||||||
| chr5:127735845
|
T | C | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-18423T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735845 | ||||||
| chr5:127735895
|
C | G | 4 | a0001c0002t0001g0028a0001c0002t0001g0029a0001c0002t0001g0036others(1): Show | 4 | HG00642.hp1 HG01884.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-18373C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735895 | ||||||
| chr5:127735914
|
G | C | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.115-18354G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127735914 | ||||||
| chr5:127736048
|
T | C | 4 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG00639.hp1 HG00735.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.115-18220T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736048 | ||||||
| chr5:127736097
|
T | C | 189 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(186): Show | 189 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.115-18171T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736097 | ||||||
| chr5:127736099
|
T | C | 1 | a0001c0001t0001g0171 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.115-18169T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736099 | ||||||
| chr5:127736108
|
G | T | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.115-18160G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736108 | ||||||
| chr5:127736145
|
T | G | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.115-18123T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736145 | ||||||
| chr5:127736168
|
C | A | 7 | a0001c0001t0001g0122a0001c0001t0001g0130a0001c0001t0001g0131others(4): Show | 7 | HG00597.hp2 HG00735.hp2 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-18100C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736168 | ||||||
| chr5:127736211
|
G | T | 6 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(3): Show | 6 | HG01891.hp2 HG02109.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.115-18057G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736211 | ||||||
| chr5:127736250
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.115-18018G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736250 | ||||||
| chr5:127736325
|
T | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-17943T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736325 | ||||||
| chr5:127736436
|
T | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-17832T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736436 | ||||||
| chr5:127736448
|
A | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-17820A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736448 | ||||||
| chr5:127736450
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-17818G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736450 | ||||||
| chr5:127736496
|
A | G | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.115-17772A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736496 | ||||||
| chr5:127736526
|
C | A | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17742C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736526 | ||||||
| chr5:127736537
|
C | T | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17731C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736537 | ||||||
| chr5:127736589
|
C | T | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17679C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736589 | ||||||
| chr5:127736603
|
C | G | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17665C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736603 | ||||||
| chr5:127736605
|
T | G | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17663T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736605 | ||||||
| chr5:127736607
|
G | T | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17661G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736607 | ||||||
| chr5:127736635
|
G | A | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17633G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736635 | ||||||
| chr5:127736668
|
G | A | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17600G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736668 | ||||||
| chr5:127736673
|
C | A | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17595C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736673 | ||||||
| chr5:127736711
|
T | C | 1 | a0001c0001t0001g0127 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.115-17557T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736711 | ||||||
| chr5:127736715
|
A | G | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17553A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736715 | ||||||
| chr5:127736717
|
A | G | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-17551A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736717 | ||||||
| chr5:127736727
|
G | A | 4 | a0001c0002t0001g0086a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-17541G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736727 | ||||||
| chr5:127736888
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.115-17380A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127736888 | ||||||
| chr5:127736908
|
GT | G | 77 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(74): Show | 77 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.115-17354delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127736908 | |||||
| chr5:127737068
|
C | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-17200C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737068 | ||||||
| chr5:127737104
|
T | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-17164T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737104 | ||||||
| chr5:127737162
|
C | T | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-17106C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737162 | ||||||
| chr5:127737347
|
C | T | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-16921C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737347 | ||||||
| chr5:127737355
|
T | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.115-16913T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737355 | ||||||
| chr5:127737361
|
G | A | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.115-16907G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737361 | ||||||
| chr5:127737373
|
A | G | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.115-16895A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737373 | ||||||
| chr5:127737502
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.115-16766G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737502 | ||||||
| chr5:127737520
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(3): Show | 6 | HG00642.hp2 HG02717.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.115-16748A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737520 | ||||||
| chr5:127737593
|
G | A | 60 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(57): Show | 60 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.115-16675G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737593 | ||||||
| chr5:127737606
|
G | A | 77 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(74): Show | 77 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.115-16662G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737606 | ||||||
| chr5:127737664
|
G | C | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-16604G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737664 | ||||||
| chr5:127737718
|
T | G | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-16550T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737718 | ||||||
| chr5:127737739
|
A | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.115-16529A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737739 | ||||||
| chr5:127737743
|
G | A | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.115-16525G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737743 | ||||||
| chr5:127737745
|
T | A | 8 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(5): Show | 8 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.115-16523T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737745 | ||||||
| chr5:127737777
|
T | A | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.115-16491T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737777 | ||||||
| chr5:127737777
|
T | G | 2 | a0001c0001t0001g0094a0001c0001t0001g0202 | 2 | HG02818.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.115-16491T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127737777 | ||||||
| chr5:127738068
|
C | T | 5 | a0001c0001t0001g0123a0001c0001t0001g0144a0001c0001t0001g0145others(2): Show | 5 | HG02895.hp2 HG02922.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.115-16200C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738068 | ||||||
| chr5:127738098
|
T | C | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-16170T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738098 | ||||||
| chr5:127738122
|
C | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-16146C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738122 | ||||||
| chr5:127738200
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-16068G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738200 | ||||||
| chr5:127738290
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.115-15978C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738290 | ||||||
| chr5:127738291
|
A | G | 217 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(214): Show | 217 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(214): Show |
intron_variant | MODIFIER | c.115-15977A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738291 | ||||||
| chr5:127738299
|
C | T | 4 | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0133others(1): Show | 4 | HG01255.hp1 HG03942.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-15969C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738299 | ||||||
| chr5:127738302
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-15966T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738302 | ||||||
| chr5:127738369
|
T | G | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.115-15899T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738369 | ||||||
| chr5:127738403
|
T | C | 2 | a0001c0001t0001g0021a0001c0001t0001g0056 | 2 | HG02109.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.115-15865T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738403 | ||||||
| chr5:127738443
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-15825C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738443 | ||||||
| chr5:127738513
|
T | C | 1 | a0001c0001t0001g0113 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.115-15755T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738513 | ||||||
| chr5:127738518
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-15750C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738518 | ||||||
| chr5:127738622
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-15646G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738622 | ||||||
| chr5:127738634
|
T | G | 4 | a0001c0001t0001g0088a0001c0001t0001g0200a0001c0001t0001g0218others(1): Show | 4 | HG02258.hp2 NA18962.hp1 NA18975.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-15634T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738634 | ||||||
| chr5:127738709
|
T | C | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-15559T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738709 | ||||||
| chr5:127738720
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.115-15548C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738720 | ||||||
| chr5:127738746
|
G | T | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-15522G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738746 | ||||||
| chr5:127738750
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-15518C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738750 | ||||||
| chr5:127738759
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.115-15509C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738759 | ||||||
| chr5:127738784
|
G | A | 2 | a0001c0001t0001g0214a0001c0001t0001g0219 | 2 | NA18961.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.115-15484G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738784 | ||||||
| chr5:127738808
|
T | A | 1 | a0001c0002t0001g0036 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.115-15460T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738808 | ||||||
| chr5:127738810
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(6): Show | 9 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.115-15458G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738810 | ||||||
| chr5:127738921
|
C | T | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-15347C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738921 | ||||||
| chr5:127738923
|
T | C | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-15345T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738923 | ||||||
| chr5:127738966
|
T | G | 77 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(74): Show | 77 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.115-15302T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738966 | ||||||
| chr5:127738975
|
A | G | 44 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(41): Show | 44 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.115-15293A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738975 | ||||||
| chr5:127738979
|
T | C | 44 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(41): Show | 44 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.115-15289T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738979 | ||||||
| chr5:127738980
|
G | A | 44 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(41): Show | 44 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.115-15288G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738980 | ||||||
| chr5:127738991
|
G | T | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-15277G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127738991 | ||||||
| chr5:127739099
|
T | A | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.115-15169T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739099 | ||||||
| chr5:127739128
|
T | C | 1 | a0001c0001t0001g0201 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.115-15140T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739128 | ||||||
| chr5:127739178
|
A | G | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.115-15090A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739178 | ||||||
| chr5:127739188
|
C | A | 2 | a0001c0001t0001g0160a0001c0001t0001g0173 | 2 | HG01943.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.115-15080C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739188 | ||||||
| chr5:127739200
|
CAG | C | 2 | a0001c0001t0001g0160a0001c0001t0001g0173 | 2 | HG01943.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.115-15067_115-1506 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739200 | ||||||
| chr5:127739217
|
G | A | 2 | a0001c0001t0001g0160a0001c0001t0001g0173 | 2 | HG01943.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.115-15051G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739217 | ||||||
| chr5:127739236
|
C | A | 1 | a0001c0001t0001g0190 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.115-15032C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739236 | ||||||
| chr5:127739304
|
G | C | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.115-14964G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739304 | ||||||
| chr5:127739346
|
G | A | 32 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-14922G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739346 | ||||||
| chr5:127739405
|
G | A | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-14863G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739405 | ||||||
| chr5:127739406
|
G | A | 113 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.115-14862G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739406 | ||||||
| chr5:127739431
|
G | C | 1 | a0001c0001t0001g0197 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.115-14837G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739431 | ||||||
| chr5:127739493
|
T | G | 11 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(8): Show | 11 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.115-14775T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739493 | ||||||
| chr5:127739500
|
G | T | 10 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(7): Show | 10 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.115-14768G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739500 | ||||||
| chr5:127739506
|
A | G | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.115-14762A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739506 | ||||||
| chr5:127739508
|
G | A | 2 | a0001c0001t0001g0166a0001c0001t0001g0167 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.115-14760G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739508 | ||||||
| chr5:127739509
|
G | T | 2 | a0001c0001t0001g0166a0001c0001t0001g0167 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.115-14759G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739509 | ||||||
| chr5:127739510
|
T | C | 4 | a0001c0001t0001g0229a0001c0003t0001g0090a0001c0003t0001g0091others(1): Show | 4 | HG02922.hp2 HG03041.hp2 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-14758T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739510 | ||||||
| chr5:127739573
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.115-14695G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739573 | ||||||
| chr5:127739625
|
T | C | 50 | a0001c0001t0001g0088a0001c0001t0001g0148a0001c0001t0001g0149others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-14643T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739625 | ||||||
| chr5:127739671
|
C | T | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.115-14597C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739671 | ||||||
| chr5:127739746
|
C | A | 1 | a0001c0001t0001g0041 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.115-14522C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739746 | ||||||
| chr5:127739790
|
C | T | 33 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(30): Show | 33 | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-14478C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739790 | ||||||
| chr5:127739793
|
G | A | 49 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(46): Show | 49 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.115-14475G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739793 | ||||||
| chr5:127739852
|
A | C | 232 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(229): Show | 232 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(229): Show |
intron_variant | MODIFIER | c.115-14416A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739852 | ||||||
| chr5:127739886
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.115-14382G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739886 | ||||||
| chr5:127739903
|
C | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-14365C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127739903 | ||||||
| chr5:127740029
|
G | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0073 | 2 | HG01167.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.115-14239G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740029 | ||||||
| chr5:127740085
|
G | A | 77 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(74): Show | 77 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.115-14183G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740085 | ||||||
| chr5:127740420
|
A | G | 7 | a0001c0001t0001g0122a0001c0001t0001g0130a0001c0001t0001g0131others(4): Show | 7 | HG00597.hp2 HG00735.hp2 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-13848A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740420 | ||||||
| chr5:127740598
|
A | AT | 9 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0102others(6): Show | 9 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.115-13664dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127740598 | |||||
| chr5:127740614
|
A | T | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.115-13654A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740614 | ||||||
| chr5:127740799
|
A | G | 1 | a0001c0001t0001g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.115-13469A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740799 | ||||||
| chr5:127740811
|
A | G | 1 | a0001c0001t0001g0183 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.115-13457A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740811 | ||||||
| chr5:127740924
|
G | A | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-13344G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127740924 | ||||||
| chr5:127741000
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.115-13268A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741000 | ||||||
| chr5:127741108
|
T | A | 1 | a0001c0001t0001g0178 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.115-13160T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741108 | ||||||
| chr5:127741121
|
C | T | 50 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0094others(47): Show | 50 | HG00438.hp1 HG01081.hp2 HG01243.hp2 others(47): Show |
intron_variant | MODIFIER | c.115-13147C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741121 | ||||||
| chr5:127741141
|
G | A | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-13127G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741141 | ||||||
| chr5:127741185
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-13083C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741185 | ||||||
| chr5:127741360
|
G | C | 7 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-12908G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741360 | ||||||
| chr5:127741435
|
G | A | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-12833G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741435 | ||||||
| chr5:127741451
|
A | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-12817A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741451 | ||||||
| chr5:127741990
|
C | G | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | HG02004.hp1 HG02148.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.115-12278C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127741990 | ||||||
| chr5:127742354
|
A | G | 229 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(226): Show | 229 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(226): Show |
intron_variant | MODIFIER | c.115-11914A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127742354 | ||||||
| chr5:127742501
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.115-11767G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127742501 | ||||||
| chr5:127742540
|
C | T | 1 | a0001c0003t0001g0092 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.115-11728C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127742540 | ||||||
| chr5:127742620
|
A | G | 2 | a0001c0001t0001g0161a0001c0001t0001g0163 | 2 | HG03831.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.115-11648A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127742620 | ||||||
| chr5:127742849
|
G | A | 48 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.115-11419G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127742849 | ||||||
| chr5:127743030
|
C | T | 1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.115-11238C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743030 | ||||||
| chr5:127743204
|
G | A | 1 | a0001c0001t0001g0173 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.115-11064G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743204 | ||||||
| chr5:127743464
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-10804C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743464 | ||||||
| chr5:127743817
|
G | A | 32 | a0001c0001t0001g0060a0001c0001t0001g0200a0001c0001t0001g0201others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-10451G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743817 | ||||||
| chr5:127743828
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-10440C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743828 | ||||||
| chr5:127743917
|
C | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-10351C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743917 | ||||||
| chr5:127743919
|
G | A | 3 | a0001c0001t0001g0200a0001c0001t0001g0218a0001c0001t0001g0225 | 3 | NA18962.hp1 NA18975.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.115-10349G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127743919 | ||||||
| chr5:127743927
|
T | TA | 5 | a0001c0001t0001g0155a0001c0001t0001g0174a0001c0001t0001g0175others(2): Show | 5 | HG00597.hp1 NA18977.hp2 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.115-10334dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127743927 | |||||
| chr5:127744001
|
G | A | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.115-10267G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744001 | ||||||
| chr5:127744011
|
A | G | 4 | a0001c0001t0001g0040a0001c0001t0001g0109a0001c0001t0001g0137others(1): Show | 4 | HG01175.hp1 HG01175.hp2 HG01256.hp1 others(1): Show |
intron_variant | MODIFIER | c.115-10257A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744011 | ||||||
| chr5:127744031
|
T | C | 1 | a0001c0001t0001g0042 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.115-10237T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744031 | ||||||
| chr5:127744079
|
G | A | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | HG02004.hp1 HG02148.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.115-10189G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744079 | ||||||
| chr5:127744093
|
C | CA | 15 | a0001c0001t0001g0021a0001c0001t0001g0056a0001c0001t0001g0078others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-10159dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127744093 | |||||
| chr5:127744111
|
G | A | 3 | a0001c0001t0001g0181a0001c0001t0001g0183a0001c0001t0001g0196 | 3 | HG01175.hp1 HG02055.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.115-10157G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744111 | ||||||
| chr5:127744111
|
G | GA | 45 | a0001c0001t0001g0020a0001c0001t0001g0148a0001c0001t0001g0149others(42): Show | 45 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(42): Show |
intron_variant | MODIFIER | c.115-10146dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127744111 | |||||
| chr5:127744111
|
GA | G | 7 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(4): Show | 7 | HG01081.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-10146delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127744111 | |||||
| chr5:127744183
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-10085G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744183 | ||||||
| chr5:127744255
|
G | A | 40 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(37): Show | 40 | HG00438.hp2 HG01070.hp1 HG01081.hp1 others(37): Show |
intron_variant | MODIFIER | c.115-10013G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744255 | ||||||
| chr5:127744372
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.115-9896G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744372 | ||||||
| chr5:127744402
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.115-9866A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744402 | ||||||
| chr5:127744873
|
G | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.115-9395G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127744873 | ||||||
| chr5:127745045
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.115-9223G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127745045 | ||||||
| chr5:127745234
|
T | C | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.115-9034T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127745234 | ||||||
| chr5:127745728
|
A | G | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.115-8540A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127745728 | ||||||
| chr5:127745907
|
G | A | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.115-8361G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127745907 | ||||||
| chr5:127746039
|
A | T | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.115-8229A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746039 | ||||||
| chr5:127746090
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.115-8178C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746090 | ||||||
| chr5:127746167
|
G | A | 1 | a0001c0001t0001g0218 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.115-8101G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746167 | ||||||
| chr5:127746311
|
T | C | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02071.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.115-7957T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746311 | ||||||
| chr5:127746486
|
C | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.115-7782C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746486 | ||||||
| chr5:127746612
|
C | CT | 12 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0121others(9): Show | 12 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(9): Show |
intron_variant | MODIFIER | c.115-7642dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127746612 | |||||
| chr5:127746612
|
CT | C | 102 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(99): Show |
intron_variant | MODIFIER | c.115-7642delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127746612 | |||||
| chr5:127746675
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.115-7593G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746675 | ||||||
| chr5:127746691
|
C | T | 3 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0045 | 3 | HG01070.hp1 HG01169.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.115-7577C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746691 | ||||||
| chr5:127746805
|
G | A | 3 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025 | 3 | HG02896.hp2 HG03195.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.115-7463G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746805 | ||||||
| chr5:127746903
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.115-7365A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127746903 | ||||||
| chr5:127747069
|
C | CT | 20 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(17): Show | 20 | HG01255.hp2 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.115-7187dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127747069 | |||||
| chr5:127747069
|
CT | C | 40 | a0001c0001t0001g0034a0001c0001t0001g0040a0001c0001t0001g0051others(37): Show | 40 | HG00438.hp1 HG00597.hp2 HG00738.hp1 others(37): Show |
intron_variant | MODIFIER | c.115-7187delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127747069 | |||||
| chr5:127747081
|
T | A | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.115-7187T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747081 | ||||||
| chr5:127747099
|
TA | T | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.115-7168delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747099 | ||||||
| chr5:127747119
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-7149G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747119 | ||||||
| chr5:127747256
|
C | A | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.115-7012C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747256 | ||||||
| chr5:127747288
|
G | A | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-6980G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747288 | ||||||
| chr5:127747352
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-6916C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747352 | ||||||
| chr5:127747353
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-6915G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747353 | ||||||
| chr5:127747411
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-6857C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747411 | ||||||
| chr5:127747448
|
A | G | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-6820A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747448 | ||||||
| chr5:127747545
|
T | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-6723T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747545 | ||||||
| chr5:127747555
|
C | T | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.115-6713C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747555 | ||||||
| chr5:127747653
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-6615C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747653 | ||||||
| chr5:127747733
|
A | T | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.115-6535A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747733 | ||||||
| chr5:127747933
|
T | C | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.115-6335T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747933 | ||||||
| chr5:127747950
|
A | G | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.115-6318A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127747950 | ||||||
| chr5:127747951
|
GTTGT | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-6310_115-6307d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127747951 | |||||
| chr5:127748122
|
T | C | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-6146T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748122 | ||||||
| chr5:127748136
|
C | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-6132C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748136 | ||||||
| chr5:127748182
|
C | T | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-6086C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748182 | ||||||
| chr5:127748248
|
G | A | 7 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(4): Show | 7 | HG01081.hp2 HG01243.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.115-6020G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748248 | ||||||
| chr5:127748334
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-5934A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748334 | ||||||
| chr5:127748358
|
A | G | 1 | a0001c0001t0001g0197 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.115-5910A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748358 | ||||||
| chr5:127748429
|
G | A | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-5839G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748429 | ||||||
| chr5:127748443
|
C | T | 1 | a0001c0001t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.115-5825C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748443 | ||||||
| chr5:127748500
|
G | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-5768G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748500 | ||||||
| chr5:127748529
|
A | T | 1 | a0001c0001t0001g0233 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.115-5739A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748529 | ||||||
| chr5:127748618
|
A | T | 3 | a0001c0001t0001g0144a0001c0001t0001g0231a0001c0001t0001g0232 | 3 | HG01884.hp2 HG02895.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.115-5650A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748618 | ||||||
| chr5:127748659
|
G | C | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-5609G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748659 | ||||||
| chr5:127748696
|
G | A | 1 | a0001c0001t0001g0136 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.115-5572G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748696 | ||||||
| chr5:127748849
|
T | C | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-5419T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748849 | ||||||
| chr5:127748926
|
T | G | 1 | a0001c0001t0001g0179 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.115-5342T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127748926 | ||||||
| chr5:127749045
|
C | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-5223C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749045 | ||||||
| chr5:127749164
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.115-5104T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749164 | ||||||
| chr5:127749165
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-5103G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749165 | ||||||
| chr5:127749170
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.115-5098A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749170 | ||||||
| chr5:127749188
|
C | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.115-5080C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749188 | ||||||
| chr5:127749232
|
G | T | 6 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(3): Show | 6 | HG02922.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.115-5036G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749232 | ||||||
| chr5:127749395
|
T | G | 3 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0194 | 3 | HG02040.hp2 HG02135.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.115-4873T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749395 | ||||||
| chr5:127749550
|
T | G | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.115-4718T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749550 | ||||||
| chr5:127749554
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.115-4714G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749554 | ||||||
| chr5:127749562
|
T | G | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.115-4706T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749562 | ||||||
| chr5:127749596
|
C | T | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.115-4672C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749596 | ||||||
| chr5:127749662
|
T | C | 1 | a0001c0001t0001g0112 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.115-4606T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749662 | ||||||
| chr5:127749721
|
T | C | 1 | a0001c0001t0001g0121 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.115-4547T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749721 | ||||||
| chr5:127749799
|
T | C | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-4469T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749799 | ||||||
| chr5:127749802
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-4466G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749802 | ||||||
| chr5:127749911
|
A | G | 1 | a0001c0001t0001g0221 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.115-4357A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749911 | ||||||
| chr5:127749985
|
C | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-4283C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127749985 | ||||||
| chr5:127750000
|
CTCT | C | 3 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0123 | 3 | HG02109.hp1 HG03041.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.115-4266_115-4264d others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127750000 | |||||
| chr5:127750028
|
C | T | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.115-4240C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750028 | ||||||
| chr5:127750091
|
A | G | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.115-4177A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750091 | ||||||
| chr5:127750126
|
G | A | 32 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-4142G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750126 | ||||||
| chr5:127750208
|
G | A | 32 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.115-4060G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750208 | ||||||
| chr5:127750221
|
C | G | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.115-4047C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750221 | ||||||
| chr5:127750295
|
G | A | 1 | a0001c0001t0001g0225 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.115-3973G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750295 | ||||||
| chr5:127750295
|
G | C | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.115-3973G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750295 | ||||||
| chr5:127750303
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.115-3965G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750303 | ||||||
| chr5:127750306
|
A | G | 4 | a0001c0001t0001g0121a0001c0001t0001g0138a0001c0001t0001g0141others(1): Show | 4 | HG00408.hp2 HG01099.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.115-3962A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750306 | ||||||
| chr5:127750426
|
G | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.115-3842G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750426 | ||||||
| chr5:127750626
|
A | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-3642A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750626 | ||||||
| chr5:127750673
|
G | T | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(61): Show | 64 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(61): Show |
intron_variant | MODIFIER | c.115-3595G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750673 | ||||||
| chr5:127750685
|
C | T | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-3583C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750685 | ||||||
| chr5:127750686
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-3582G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750686 | ||||||
| chr5:127750747
|
C | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.115-3521C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750747 | ||||||
| chr5:127750777
|
G | A | 16 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(13): Show | 16 | HG00408.hp1 HG01943.hp2 HG02300.hp1 others(13): Show |
intron_variant | MODIFIER | c.115-3491G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750777 | ||||||
| chr5:127750806
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.115-3462G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750806 | ||||||
| chr5:127750813
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.115-3455A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750813 | ||||||
| chr5:127750864
|
T | A | 1 | a0001c0001t0001g0144 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.115-3404T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127750864 | ||||||
| chr5:127751007
|
T | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.115-3261T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751007 | ||||||
| chr5:127751044
|
C | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.115-3224C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751044 | ||||||
| chr5:127751182
|
G | A | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.115-3086G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751182 | ||||||
| chr5:127751258
|
G | C | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-3010G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751258 | ||||||
| chr5:127751277
|
A | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-2991A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751277 | ||||||
| chr5:127751287
|
A | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-2981A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751287 | ||||||
| chr5:127751430
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.115-2838T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751430 | ||||||
| chr5:127751451
|
C | T | 1 | a0001c0001t0001g0187 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.115-2817C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751451 | ||||||
| chr5:127751487
|
A | G | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.115-2781A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751487 | ||||||
| chr5:127751519
|
G | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-2749G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751519 | ||||||
| chr5:127751554
|
C | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-2714C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751554 | ||||||
| chr5:127751693
|
A | AAT | 7 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.115-2572_115-2571d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127751693 | |||||
| chr5:127751735
|
A | G | 1 | a0001c0001t0001g0208 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.115-2533A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751735 | ||||||
| chr5:127751818
|
G | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-2450G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751818 | ||||||
| chr5:127751886
|
C | G | 1 | a0001c0001t0001g0103 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.115-2382C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751886 | ||||||
| chr5:127751903
|
G | A | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-2365G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751903 | ||||||
| chr5:127751903
|
G | C | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-2365G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751903 | ||||||
| chr5:127751907
|
C | T | 3 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0002t0001g0029 | 3 | HG02717.hp2 HG02976.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.115-2361C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751907 | ||||||
| chr5:127751971
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-2297C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127751971 | ||||||
| chr5:127752022
|
T | G | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-2246T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752022 | ||||||
| chr5:127752061
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.115-2207C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752061 | ||||||
| chr5:127752272
|
G | T | 1 | a0001c0001t0001g0179 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.115-1996G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752272 | ||||||
| chr5:127752305
|
T | G | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.115-1963T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752305 | ||||||
| chr5:127752334
|
C | G | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-1934C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752334 | ||||||
| chr5:127752387
|
G | C | 3 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147 | 3 | HG02922.hp1 HG02965.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.115-1881G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752387 | ||||||
| chr5:127752430
|
T | G | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.115-1838T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752430 | ||||||
| chr5:127752468
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0001g0162 | 2 | HG00735.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.115-1800G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752468 | ||||||
| chr5:127752676
|
G | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-1592G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752676 | ||||||
| chr5:127752683
|
T | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-1585T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752683 | ||||||
| chr5:127752693
|
C | T | 8 | a0001c0001t0001g0030a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.115-1575C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752693 | ||||||
| chr5:127752694
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.115-1574G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752694 | ||||||
| chr5:127752714
|
C | T | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(2): Show | 5 | HG01167.hp1 HG02004.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.115-1554C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752714 | ||||||
| chr5:127752746
|
T | C | 6 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(3): Show | 6 | HG01891.hp2 HG02109.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.115-1522T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752746 | ||||||
| chr5:127752756
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.115-1512G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752756 | ||||||
| chr5:127752758
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-1510C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752758 | ||||||
| chr5:127752783
|
C | T | 1 | a0001c0001t0001g0007 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.115-1485C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752783 | ||||||
| chr5:127752818
|
C | T | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.115-1450C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752818 | ||||||
| chr5:127752828
|
T | C | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-1440T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752828 | ||||||
| chr5:127752831
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115-1437G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752831 | ||||||
| chr5:127752845
|
T | C | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.115-1423T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752845 | ||||||
| chr5:127752854
|
C | T | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-1414C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752854 | ||||||
| chr5:127752871
|
A | C | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-1397A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752871 | ||||||
| chr5:127752934
|
C | G | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.115-1334C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752934 | ||||||
| chr5:127752934
|
C | T | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.115-1334C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752934 | ||||||
| chr5:127752968
|
T | C | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.115-1300T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752968 | ||||||
| chr5:127752971
|
G | C | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.115-1297G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752971 | ||||||
| chr5:127752977
|
T | A | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.115-1291T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752977 | ||||||
| chr5:127752978
|
C | T | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.115-1290C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127752978 | ||||||
| chr5:127753135
|
C | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.115-1133C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753135 | ||||||
| chr5:127753146
|
G | C | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.115-1122G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753146 | ||||||
| chr5:127753226
|
G | T | 1 | a0001c0001t0001g0154 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.115-1042G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753226 | ||||||
| chr5:127753423
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.115-845C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753423 | ||||||
| chr5:127753468
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.115-800C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753468 | ||||||
| chr5:127753644
|
T | C | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.115-624T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753644 | ||||||
| chr5:127753657
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.115-611G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753657 | ||||||
| chr5:127753688
|
G | GA | 6 | a0001c0001t0001g0212a0001c0002t0001g0084a0001c0002t0001g0085others(3): Show | 6 | HG00597.hp2 HG02258.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.115-562dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127753688 | |||||
| chr5:127753688
|
GA | G | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.115-562delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | 127753688 | |||||
| chr5:127753989
|
T | A | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.115-279T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127753989 | ||||||
| chr5:127754257
|
T | A | 1 | a0001c0001t0001g0182 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.115-11T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | chr5 | 127754257 | ||||||
| chr5:127754421
|
A | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.222+46A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754421 | ||||||
| chr5:127754472
|
T | TAC | 21 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0025others(18): Show | 21 | HG00735.hp1 HG01243.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.222+117_222+118dup others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127754472 | |||||
| chr5:127754472
|
TACACACA others(19): Show |
T | 16 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0002t0001g0013others(13): Show | 16 | HG00642.hp1 HG01081.hp2 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.222+113_222+138del others(26): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127754472 | |||||
| chr5:127754494
|
T | C | 1 | a0001c0001t0001g0024 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.222+119T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754494 | ||||||
| chr5:127754494
|
T | TAC | 68 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(65): Show | 68 | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.222+137_222+138dup others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127754494 | |||||
| chr5:127754494
|
TAC | T | 6 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0158others(3): Show | 6 | HG00323.hp2 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+137_222+138del others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127754494 | |||||
| chr5:127754536
|
A | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+161A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754536 | ||||||
| chr5:127754653
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.222+278A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754653 | ||||||
| chr5:127754680
|
TTAAC | T | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.222+309_222+312del others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127754680 | |||||
| chr5:127754693
|
C | A | 6 | a0001c0001t0001g0209a0001c0001t0001g0215a0001c0001t0001g0217others(3): Show | 6 | NA18963.hp2 NA19058.hp1 NA19066.hp2 others(3): Show |
intron_variant | MODIFIER | c.222+318C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754693 | ||||||
| chr5:127754710
|
G | A | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+335G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754710 | ||||||
| chr5:127754950
|
T | C | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.222+575T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127754950 | ||||||
| chr5:127755007
|
C | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.222+632C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755007 | ||||||
| chr5:127755030
|
T | C | 2 | a0001c0001t0001g0160a0001c0001t0001g0173 | 2 | HG01943.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.222+655T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755030 | ||||||
| chr5:127755090
|
G | A | 1 | a0001c0001t0001g0192 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.222+715G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755090 | ||||||
| chr5:127755102
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+727G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755102 | ||||||
| chr5:127755294
|
T | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG03195.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.222+919T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755294 | ||||||
| chr5:127755317
|
C | A | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.222+942C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755317 | ||||||
| chr5:127755390
|
C | T | 13 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(10): Show | 13 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.222+1015C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755390 | ||||||
| chr5:127755530
|
A | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.222+1155A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127755530 | ||||||
| chr5:127755680
|
C | CA | 69 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(66): Show | 69 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(66): Show |
intron_variant | MODIFIER | c.222+1319dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127755680 | |||||
| chr5:127755680
|
CA | C | 16 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.222+1319delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127755680 | |||||
| chr5:127755795
|
AT | A | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.222+1433delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127755795 | |||||
| chr5:127756037
|
G | T | 7 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(4): Show | 7 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.222+1662G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756037 | ||||||
| chr5:127756045
|
ATG | A | 2 | a0001c0001t0001g0109a0001c0001t0001g0137 | 2 | HG01256.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.222+1671_222+1672d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756045 | ||||||
| chr5:127756136
|
G | GA | 19 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(16): Show | 19 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(16): Show |
intron_variant | MODIFIER | c.222+1774dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127756136 | |||||
| chr5:127756229
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.222+1854C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756229 | ||||||
| chr5:127756271
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.222+1896A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756271 | ||||||
| chr5:127756394
|
G | T | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.222+2019G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756394 | ||||||
| chr5:127756395
|
G | A | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.222+2020G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756395 | ||||||
| chr5:127756412
|
G | C | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.222+2037G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756412 | ||||||
| chr5:127756549
|
G | C | 4 | a0001c0001t0001g0095a0001c0001t0001g0170a0001c0001t0001g0181others(1): Show | 4 | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.222+2174G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756549 | ||||||
| chr5:127756549
|
G | T | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.222+2174G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756549 | ||||||
| chr5:127756631
|
G | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+2256G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756631 | ||||||
| chr5:127756652
|
A | C | 117 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0024others(114): Show | 117 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.222+2277A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756652 | ||||||
| chr5:127756768
|
A | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.222+2393A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127756768 | ||||||
| chr5:127757008
|
G | C | 1 | a0001c0001t0001g0171 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.222+2633G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757008 | ||||||
| chr5:127757045
|
A | C | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.222+2670A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757045 | ||||||
| chr5:127757111
|
T | C | 1 | a0001c0001t0001g0218 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.222+2736T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757111 | ||||||
| chr5:127757663
|
C | T | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.222+3288C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757663 | ||||||
| chr5:127757724
|
A | G | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+3349A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757724 | ||||||
| chr5:127757735
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.222+3360G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757735 | ||||||
| chr5:127757755
|
A | T | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.222+3380A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757755 | ||||||
| chr5:127757767
|
T | TAC | 27 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(24): Show | 27 | HG00438.hp1 HG00597.hp2 HG01993.hp2 others(24): Show |
intron_variant | MODIFIER | c.222+3423_222+3424d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757767 | |||||
| chr5:127757767
|
T | TACAC | 5 | a0001c0001t0001g0006a0001c0001t0001g0214a0001c0002t0001g0084others(2): Show | 5 | HG02258.hp1 HG02895.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.222+3421_222+3424d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757767 | |||||
| chr5:127757767
|
TAC | T | 29 | a0001c0001t0001g0087a0001c0001t0001g0094a0001c0001t0001g0110others(26): Show | 29 | HG00408.hp2 HG00735.hp2 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.222+3423_222+3424d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757767 | |||||
| chr5:127757782
|
A | ACACACAC others(3): Show |
2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.222+3416_222+3417i others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757782 | |||||
| chr5:127757790
|
ACACACAC others(3): Show |
A | 1 | a0001c0001t0001g0042 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.222+3417_222+3426d others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757790 | |||||
| chr5:127757794
|
ACACACTC others(1): Show |
A | 2 | a0001c0001t0001g0011a0001c0001t0001g0024 | 2 | HG03195.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.222+3421_222+3428d others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757794 | |||||
| chr5:127757796
|
ACACT | A | 18 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0046others(15): Show | 18 | HG00642.hp1 HG01081.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.222+3423_222+3426d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757796 | |||||
| chr5:127757796
|
ACACTCT | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0088 | 2 | HG02258.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.222+3423_222+3428d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757796 | |||||
| chr5:127757796
|
ACACTCTC others(1): Show |
A | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.222+3423_222+3430d others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757796 | |||||
| chr5:127757796
|
ACACTCTC others(3): Show |
A | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.222+3423_222+3432d others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757796 | |||||
| chr5:127757798
|
ACT | A | 100 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(97): Show | 100 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.222+3443_222+3444d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757798 | |||||
| chr5:127757798
|
ACTCTCT | A | 8 | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0104others(5): Show | 8 | HG02109.hp1 HG02818.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.222+3439_222+3444d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757798 | |||||
| chr5:127757798
|
ACTCTCTC others(1): Show |
A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+3437_222+3444d others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757798 | |||||
| chr5:127757800
|
T | A | 45 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(42): Show | 45 | HG00438.hp1 HG00597.hp2 HG01167.hp1 others(42): Show |
intron_variant | MODIFIER | c.222+3425T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757800 | ||||||
| chr5:127757802
|
T | A | 81 | a0001c0001t0001g0020a0001c0001t0001g0074a0001c0001t0001g0095others(78): Show | 81 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.222+3427T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757802 | ||||||
| chr5:127757806
|
T | A | 6 | a0001c0001t0001g0030a0001c0001t0001g0104a0001c0001t0001g0123others(3): Show | 6 | HG02818.hp1 HG02886.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.222+3431T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757806 | ||||||
| chr5:127757808
|
T | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+3433T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757808 | ||||||
| chr5:127757831
|
A | ATG | 5 | a0001c0001t0001g0088a0001c0001t0001g0105a0001c0002t0001g0044others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.222+3476_222+3477d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757831 | |||||
| chr5:127757831
|
ATG | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.222+3476_222+3477d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127757831 | |||||
| chr5:127757979
|
C | T | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.222+3604C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127757979 | ||||||
| chr5:127758008
|
G | T | 1 | a0001c0001t0001g0076 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.222+3633G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758008 | ||||||
| chr5:127758041
|
A | T | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.222+3666A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758041 | ||||||
| chr5:127758071
|
A | T | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.222+3696A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758071 | ||||||
| chr5:127758270
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+3895G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758270 | ||||||
| chr5:127758644
|
G | A | 50 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(47): Show | 50 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.222+4269G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758644 | ||||||
| chr5:127758690
|
A | T | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.222+4315A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758690 | ||||||
| chr5:127758693
|
A | T | 45 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0148others(42): Show | 45 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(42): Show |
intron_variant | MODIFIER | c.222+4318A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758693 | ||||||
| chr5:127758905
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+4530C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127758905 | ||||||
| chr5:127759096
|
C | T | 1 | a0001c0001t0001g0165 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.222+4721C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759096 | ||||||
| chr5:127759318
|
A | G | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.222+4943A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759318 | ||||||
| chr5:127759467
|
CTGTGAAC others(17): Show |
C | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.222+5094_222+5117d others(26): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127759467 | |||||
| chr5:127759540
|
A | G | 1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.222+5165A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759540 | ||||||
| chr5:127759779
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.222+5404G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759779 | ||||||
| chr5:127759792
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.222+5417C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759792 | ||||||
| chr5:127759883
|
A | G | 1 | a0001c0001t0001g0160 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.222+5508A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127759883 | ||||||
| chr5:127760266
|
G | GT | 167 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(164): Show | 167 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(164): Show |
intron_variant | MODIFIER | c.222+5903dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760266 | |||||
| chr5:127760266
|
G | GTT | 36 | a0001c0001t0001g0038a0001c0001t0001g0074a0001c0001t0001g0144others(33): Show | 36 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(33): Show |
intron_variant | MODIFIER | c.222+5902_222+5903d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760266 | |||||
| chr5:127760307
|
T | C | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.222+5932T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760307 | ||||||
| chr5:127760394
|
A | G | 1 | a0001c0001t0001g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.222+6019A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760394 | ||||||
| chr5:127760403
|
C | T | 1 | a0004c0007t0001g0177 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.222+6028C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760403 | ||||||
| chr5:127760593
|
G | A | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.222+6218G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760593 | ||||||
| chr5:127760598
|
A | C | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | HG04204.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.222+6223A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760598 | ||||||
| chr5:127760701
|
C | CA | 83 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(80): Show |
intron_variant | MODIFIER | c.222+6349dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760701 | |||||
| chr5:127760701
|
C | CAA | 16 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0039others(13): Show | 16 | HG00438.hp2 HG00642.hp1 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.222+6348_222+6349d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760701 | |||||
| chr5:127760701
|
CA | C | 44 | a0001c0001t0001g0074a0001c0001t0001g0097a0001c0001t0001g0109others(41): Show | 44 | HG00438.hp1 HG01884.hp2 HG01943.hp2 others(41): Show |
intron_variant | MODIFIER | c.222+6349delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760701 | |||||
| chr5:127760701
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0136 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.222+6336_222+6349d others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127760701 | |||||
| chr5:127760963
|
CA | C | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.222+6589delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127760963 | ||||||
| chr5:127761047
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.222+6672A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761047 | ||||||
| chr5:127761109
|
C | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.222+6734C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761109 | ||||||
| chr5:127761142
|
T | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+6767T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761142 | ||||||
| chr5:127761244
|
G | T | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.222+6869G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761244 | ||||||
| chr5:127761245
|
G | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.222+6870G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761245 | ||||||
| chr5:127761671
|
A | G | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.222+7296A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761671 | ||||||
| chr5:127761689
|
C | T | 1 | a0001c0001t0001g0083 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.222+7314C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761689 | ||||||
| chr5:127761921
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+7546C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761921 | ||||||
| chr5:127761976
|
C | G | 1 | a0001c0001t0001g0131 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.222+7601C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127761976 | ||||||
| chr5:127762058
|
G | GT | 34 | a0001c0001t0001g0068a0001c0001t0001g0074a0001c0001t0001g0144others(31): Show | 34 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(31): Show |
intron_variant | MODIFIER | c.222+7692dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127762058 | |||||
| chr5:127762145
|
C | A | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.222+7770C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127762145 | ||||||
| chr5:127762682
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.222+8307G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127762682 | ||||||
| chr5:127762798
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.222+8423C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127762798 | ||||||
| chr5:127762831
|
T | G | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.222+8456T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127762831 | ||||||
| chr5:127763069
|
C | CGTAGTGA others(23): Show |
3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+8694_222+8695i others(32): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763069 | ||||||
| chr5:127763070
|
T | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+8695T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763070 | ||||||
| chr5:127763071
|
C | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+8696C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763071 | ||||||
| chr5:127763296
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.222+8921C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763296 | ||||||
| chr5:127763307
|
A | C | 84 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0024others(81): Show | 84 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.222+8932A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763307 | ||||||
| chr5:127763513
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.222+9138C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763513 | ||||||
| chr5:127763621
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.222+9246A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763621 | ||||||
| chr5:127763854
|
G | A | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.222+9479G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763854 | ||||||
| chr5:127763875
|
A | T | 1 | a0001c0001t0001g0130 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.222+9500A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127763875 | ||||||
| chr5:127764010
|
G | A | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.222+9635G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764010 | ||||||
| chr5:127764333
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+9958A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764333 | ||||||
| chr5:127764403
|
A | T | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.222+10028A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764403 | ||||||
| chr5:127764672
|
TAGA | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+10308_222+1031 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127764672 | |||||
| chr5:127764701
|
T | C | 202 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(199): Show | 202 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(199): Show |
intron_variant | MODIFIER | c.222+10326T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764701 | ||||||
| chr5:127764776
|
A | G | 1 | a0001c0001t0001g0187 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.222+10401A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764776 | ||||||
| chr5:127764809
|
C | A | 191 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(188): Show | 191 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.222+10434C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127764809 | ||||||
| chr5:127765064
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+10689G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765064 | ||||||
| chr5:127765497
|
A | G | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+11122A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765497 | ||||||
| chr5:127765635
|
A | T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+11260A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765635 | ||||||
| chr5:127765727
|
T | C | 125 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0020others(122): Show | 125 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(122): Show |
intron_variant | MODIFIER | c.222+11352T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765727 | ||||||
| chr5:127765776
|
A | C | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+11401A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765776 | ||||||
| chr5:127765861
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.222+11486C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127765861 | ||||||
| chr5:127766401
|
A | G | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.222+12026A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127766401 | ||||||
| chr5:127766433
|
A | G | 35 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0165others(32): Show | 35 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(32): Show |
intron_variant | MODIFIER | c.222+12058A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127766433 | ||||||
| chr5:127766608
|
T | TA | 9 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(6): Show | 9 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.222+12259dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127766608 | |||||
| chr5:127766608
|
TA | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(9): Show | 12 | HG00597.hp1 HG01081.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.222+12259delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127766608 | |||||
| chr5:127766608
|
TAA | T | 105 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0030others(102): Show | 105 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(102): Show |
intron_variant | MODIFIER | c.222+12258_222+1225 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127766608 | |||||
| chr5:127766608
|
TAAA | T | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(61): Show | 64 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(61): Show |
intron_variant | MODIFIER | c.222+12257_222+1225 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127766608 | |||||
| chr5:127766608
|
TAAAAAAA others(7): Show |
T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+12246_222+1225 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127766608 | |||||
| chr5:127766825
|
A | G | 1 | a0001c0001t0001g0123 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.222+12450A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127766825 | ||||||
| chr5:127767006
|
C | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.222+12631C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767006 | ||||||
| chr5:127767172
|
C | T | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.222+12797C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767172 | ||||||
| chr5:127767350
|
G | A | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.222+12975G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767350 | ||||||
| chr5:127767384
|
C | T | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.222+13009C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767384 | ||||||
| chr5:127767471
|
G | A | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.222+13096G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767471 | ||||||
| chr5:127767660
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+13285G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767660 | ||||||
| chr5:127767820
|
A | T | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+13445A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767820 | ||||||
| chr5:127767940
|
T | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.222+13565T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767940 | ||||||
| chr5:127767981
|
T | C | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+13606T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127767981 | ||||||
| chr5:127768113
|
G | A | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.222+13738G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768113 | ||||||
| chr5:127768189
|
T | C | 1 | a0001c0001t0001g0144 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.222+13814T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768189 | ||||||
| chr5:127768265
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+13890G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768265 | ||||||
| chr5:127768267
|
A | G | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+13892A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768267 | ||||||
| chr5:127768283
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+13908C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768283 | ||||||
| chr5:127768472
|
A | G | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+14097A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768472 | ||||||
| chr5:127768481
|
C | T | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.222+14106C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768481 | ||||||
| chr5:127768811
|
G | A | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.222+14436G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768811 | ||||||
| chr5:127768876
|
AT | A | 17 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(14): Show | 17 | HG02040.hp1 HG02056.hp1 HG02132.hp2 others(14): Show |
intron_variant | MODIFIER | c.222+14506delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127768876 | |||||
| chr5:127768882
|
A | G | 17 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(14): Show | 17 | HG02040.hp1 HG02056.hp1 HG02132.hp2 others(14): Show |
intron_variant | MODIFIER | c.222+14507A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768882 | ||||||
| chr5:127768894
|
A | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+14519A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768894 | ||||||
| chr5:127768895
|
A | C | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+14520A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127768895 | ||||||
| chr5:127769179
|
C | T | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.222+14804C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769179 | ||||||
| chr5:127769267
|
C | T | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.222+14892C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769267 | ||||||
| chr5:127769361
|
C | A | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.222+14986C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769361 | ||||||
| chr5:127769413
|
A | ATG | 13 | a0001c0001t0001g0030a0001c0001t0001g0101a0001c0001t0001g0102others(10): Show | 13 | HG01256.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.222+15064_222+1506 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127769413 | |||||
| chr5:127769413
|
ATGTGTG | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+15060_222+1506 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127769413 | |||||
| chr5:127769577
|
A | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+15202A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769577 | ||||||
| chr5:127769671
|
A | G | 1 | a0001c0001t0001g0018 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.222+15296A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769671 | ||||||
| chr5:127769716
|
T | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+15341T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769716 | ||||||
| chr5:127769798
|
T | A | 20 | a0001c0001t0001g0095a0001c0002t0001g0013a0001c0002t0001g0023others(17): Show | 20 | HG00642.hp1 HG01243.hp1 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.222+15423T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769798 | ||||||
| chr5:127769902
|
T | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+15527T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769902 | ||||||
| chr5:127769933
|
A | G | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.222+15558A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127769933 | ||||||
| chr5:127770119
|
C | G | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.222+15744C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770119 | ||||||
| chr5:127770300
|
C | T | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.222+15925C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770300 | ||||||
| chr5:127770347
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.222+15972G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770347 | ||||||
| chr5:127770360
|
A | AT | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+15986dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127770360 | |||||
| chr5:127770623
|
A | G | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.222+16248A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770623 | ||||||
| chr5:127770625
|
T | G | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.222+16250T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770625 | ||||||
| chr5:127770637
|
G | T | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.222+16262G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770637 | ||||||
| chr5:127770902
|
G | A | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.222+16527G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770902 | ||||||
| chr5:127770975
|
T | C | 1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.222+16600T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127770975 | ||||||
| chr5:127771054
|
A | T | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.222+16679A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771054 | ||||||
| chr5:127771057
|
A | G | 4 | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0133others(1): Show | 4 | HG01255.hp1 HG03942.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.222+16682A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771057 | ||||||
| chr5:127771225
|
A | G | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.222+16850A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771225 | ||||||
| chr5:127771227
|
A | T | 3 | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0071 | 3 | HG02056.hp1 HG02132.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.222+16852A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771227 | ||||||
| chr5:127771324
|
C | A | 5 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG02040.hp2 HG02135.hp2 NA19002.hp2 others(2): Show |
intron_variant | MODIFIER | c.222+16949C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771324 | ||||||
| chr5:127771518
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+17143G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127771518 | ||||||
| chr5:127772002
|
G | C | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+17627G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772002 | ||||||
| chr5:127772080
|
C | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0046 | 2 | HG02717.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.222+17705C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772080 | ||||||
| chr5:127772142
|
C | T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+17767C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772142 | ||||||
| chr5:127772172
|
C | T | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.222+17797C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772172 | ||||||
| chr5:127772185
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.222+17810G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772185 | ||||||
| chr5:127772466
|
C | CA | 8 | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0067others(5): Show | 8 | HG02055.hp2 HG02148.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.222+18108dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127772466 | |||||
| chr5:127772466
|
CA | C | 34 | a0001c0001t0001g0057a0001c0001t0001g0065a0001c0001t0001g0074others(31): Show | 34 | HG00438.hp1 HG00597.hp2 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.222+18108delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127772466 | |||||
| chr5:127772560
|
T | C | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.222+18185T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772560 | ||||||
| chr5:127772568
|
A | G | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.222+18193A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772568 | ||||||
| chr5:127772846
|
G | A | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+18471G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127772846 | ||||||
| chr5:127773156
|
A | G | 2 | a0001c0001t0001g0061a0001c0001t0001g0066 | 2 | NA18945.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.222+18781A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127773156 | ||||||
| chr5:127773396
|
CAGA | C | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.222+19026_222+1902 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127773396 | |||||
| chr5:127773659
|
A | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.222+19284A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127773659 | ||||||
| chr5:127773683
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+19308A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127773683 | ||||||
| chr5:127773799
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.222+19424A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127773799 | ||||||
| chr5:127773961
|
G | A | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(2): Show | 5 | HG01167.hp1 HG02004.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.222+19586G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127773961 | ||||||
| chr5:127774100
|
C | T | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+19725C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774100 | ||||||
| chr5:127774127
|
C | T | 2 | a0001c0001t0001g0049a0001c0001t0001g0064 | 2 | NA18998.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.222+19752C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774127 | ||||||
| chr5:127774391
|
T | C | 48 | a0001c0001t0001g0020a0001c0001t0001g0149a0001c0001t0001g0150others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.222+20016T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774391 | ||||||
| chr5:127774540
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.222+20165A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774540 | ||||||
| chr5:127774728
|
G | C | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+20353G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774728 | ||||||
| chr5:127774765
|
A | T | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.222+20390A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774765 | ||||||
| chr5:127774794
|
C | A | 32 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.222+20419C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127774794 | ||||||
| chr5:127775325
|
T | A | 65 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.222+20950T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775325 | ||||||
| chr5:127775579
|
G | A | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.222+21204G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775579 | ||||||
| chr5:127775596
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.222+21221A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775596 | ||||||
| chr5:127775604
|
G | A | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.222+21229G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775604 | ||||||
| chr5:127775648
|
T | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.222+21273T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775648 | ||||||
| chr5:127775735
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.222+21360G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775735 | ||||||
| chr5:127775772
|
G | A | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.223-21331G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775772 | ||||||
| chr5:127775889
|
T | C | 15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.223-21214T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127775889 | ||||||
| chr5:127776261
|
A | AAGTTTGC others(4): Show |
15 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.223-20842_223-2084 others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127776261 | ||||||
| chr5:127776401
|
G | A | 1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.223-20702G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127776401 | ||||||
| chr5:127776649
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-20454C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127776649 | ||||||
| chr5:127776846
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-20257C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127776846 | ||||||
| chr5:127777059
|
G | A | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.223-20044G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777059 | ||||||
| chr5:127777076
|
T | C | 68 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(65): Show | 68 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.223-20027T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777076 | ||||||
| chr5:127777266
|
G | T | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.223-19837G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777266 | ||||||
| chr5:127777337
|
C | T | 2 | a0001c0001t0001g0021a0001c0001t0001g0056 | 2 | HG02109.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.223-19766C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777337 | ||||||
| chr5:127777379
|
C | T | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.223-19724C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777379 | ||||||
| chr5:127777432
|
T | C | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-19671T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777432 | ||||||
| chr5:127777504
|
C | A | 2 | a0001c0003t0001g0090a0001c0003t0001g0092 | 2 | HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.223-19599C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777504 | ||||||
| chr5:127777897
|
C | CT | 13 | a0001c0001t0001g0075a0001c0001t0001g0101a0001c0001t0001g0102others(10): Show | 13 | HG00597.hp1 HG00642.hp2 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.223-19193dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127777897 | |||||
| chr5:127777903
|
T | A | 2 | a0001c0003t0001g0090a0001c0003t0001g0092 | 2 | HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.223-19200T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777903 | ||||||
| chr5:127777923
|
G | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.223-19180G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127777923 | ||||||
| chr5:127778007
|
T | TTG | 5 | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0105others(2): Show | 5 | HG01516.hp2 HG02109.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.223-19076_223-1907 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127778007 | |||||
| chr5:127778242
|
C | T | 115 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0024others(112): Show | 115 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.223-18861C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127778242 | ||||||
| chr5:127778537
|
G | T | 51 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(48): Show | 51 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(48): Show |
intron_variant | MODIFIER | c.223-18566G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127778537 | ||||||
| chr5:127778726
|
C | CTTT | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.223-18375_223-1837 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127778726 | |||||
| chr5:127778775
|
A | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.223-18328A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127778775 | ||||||
| chr5:127778946
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-18157A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127778946 | ||||||
| chr5:127779057
|
A | G | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-18046A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779057 | ||||||
| chr5:127779202
|
A | G | 3 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | NA18970.hp1 NA19010.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.223-17901A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779202 | ||||||
| chr5:127779365
|
G | A | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-17738G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779365 | ||||||
| chr5:127779421
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-17682A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779421 | ||||||
| chr5:127779444
|
C | T | 1 | a0001c0001t0001g0216 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.223-17659C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779444 | ||||||
| chr5:127779452
|
C | G | 1 | a0001c0001t0001g0053 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.223-17651C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779452 | ||||||
| chr5:127779459
|
C | T | 3 | a0001c0001t0001g0215a0001c0001t0001g0220a0001c0001t0001g0228 | 3 | NA18963.hp2 NA19077.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.223-17644C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779459 | ||||||
| chr5:127779464
|
T | C | 1 | a0001c0001t0001g0205 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.223-17639T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779464 | ||||||
| chr5:127779495
|
CTG | C | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-17604_223-1760 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127779495 | |||||
| chr5:127779499
|
G | A | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-17604G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779499 | ||||||
| chr5:127779500
|
T | C | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-17603T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779500 | ||||||
| chr5:127779587
|
G | A | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-17516G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779587 | ||||||
| chr5:127779836
|
G | A | 1 | a0001c0001t0001g0001 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.223-17267G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779836 | ||||||
| chr5:127779865
|
T | C | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-17238T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779865 | ||||||
| chr5:127779887
|
C | T | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.223-17216C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779887 | ||||||
| chr5:127779905
|
C | T | 2 | a0001c0001t0001g0189a0001c0001t0001g0195 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.223-17198C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779905 | ||||||
| chr5:127779932
|
A | G | 6 | a0001c0001t0001g0154a0001c0001t0001g0156a0001c0001t0001g0157others(3): Show | 6 | HG02300.hp1 NA18970.hp1 NA19000.hp1 others(3): Show |
intron_variant | MODIFIER | c.223-17171A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779932 | ||||||
| chr5:127779950
|
C | A | 1 | a0001c0001t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.223-17153C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779950 | ||||||
| chr5:127779960
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-17143A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127779960 | ||||||
| chr5:127780146
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-16957C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780146 | ||||||
| chr5:127780159
|
G | A | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-16944G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780159 | ||||||
| chr5:127780304
|
T | A | 1 | a0001c0001t0001g0221 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.223-16799T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780304 | ||||||
| chr5:127780314
|
C | T | 1 | a0001c0001t0001g0100 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.223-16789C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780314 | ||||||
| chr5:127780344
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.223-16759G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780344 | ||||||
| chr5:127780566
|
A | G | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.223-16537A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780566 | ||||||
| chr5:127780675
|
T | G | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.223-16428T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780675 | ||||||
| chr5:127780690
|
T | C | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.223-16413T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780690 | ||||||
| chr5:127780722
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-16381A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127780722 | ||||||
| chr5:127781034
|
G | A | 7 | a0001c0001t0001g0020a0001c0001t0001g0162a0001c0001t0001g0166others(4): Show | 7 | HG00735.hp1 HG01256.hp2 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.223-16069G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781034 | ||||||
| chr5:127781275
|
A | G | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.223-15828A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781275 | ||||||
| chr5:127781572
|
A | AT | 7 | a0001c0001t0001g0061a0001c0001t0001g0066a0001c0001t0001g0078others(4): Show | 7 | HG01243.hp2 HG02602.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.223-15529dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127781572 | |||||
| chr5:127781575
|
C | T | 183 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(180): Show | 183 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(180): Show |
intron_variant | MODIFIER | c.223-15528C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781575 | ||||||
| chr5:127781576
|
C | T | 7 | a0001c0001t0001g0061a0001c0001t0001g0066a0001c0001t0001g0078others(4): Show | 7 | HG01243.hp2 HG02602.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.223-15527C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781576 | ||||||
| chr5:127781666
|
C | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-15437C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781666 | ||||||
| chr5:127781704
|
C | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-15399C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781704 | ||||||
| chr5:127781725
|
A | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-15378A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781725 | ||||||
| chr5:127781908
|
T | C | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-15195T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781908 | ||||||
| chr5:127781963
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.223-15140G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781963 | ||||||
| chr5:127781967
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-15136G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127781967 | ||||||
| chr5:127782006
|
T | C | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.223-15097T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782006 | ||||||
| chr5:127782225
|
T | A | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.223-14878T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782225 | ||||||
| chr5:127782248
|
G | A | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.223-14855G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782248 | ||||||
| chr5:127782276
|
C | T | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.223-14827C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782276 | ||||||
| chr5:127782299
|
T | C | 1 | a0001c0001t0001g0183 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.223-14804T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782299 | ||||||
| chr5:127782312
|
A | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.223-14791A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782312 | ||||||
| chr5:127782454
|
T | C | 1 | a0001c0002t0001g0044 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.223-14649T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782454 | ||||||
| chr5:127782661
|
T | G | 1 | a0001c0001t0001g0004 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.223-14442T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782661 | ||||||
| chr5:127782724
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.223-14379C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782724 | ||||||
| chr5:127782739
|
A | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.223-14364A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782739 | ||||||
| chr5:127782997
|
G | GT | 10 | a0001c0001t0001g0020a0001c0001t0001g0126a0001c0001t0001g0130others(7): Show | 10 | HG00735.hp1 HG00735.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.223-14090dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127782997 | |||||
| chr5:127782997
|
GT | G | 18 | a0001c0001t0001g0088a0001c0001t0001g0094a0001c0001t0001g0108others(15): Show | 18 | HG00642.hp1 HG01243.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.223-14090delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127782997 | |||||
| chr5:127782999
|
T | G | 1 | a0001c0002t0001g0044 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.223-14104T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127782999 | ||||||
| chr5:127783154
|
A | T | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.223-13949A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783154 | ||||||
| chr5:127783171
|
T | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.223-13932T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783171 | ||||||
| chr5:127783216
|
G | A | 51 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(48): Show | 51 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(48): Show |
intron_variant | MODIFIER | c.223-13887G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783216 | ||||||
| chr5:127783293
|
A | T | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.223-13810A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783293 | ||||||
| chr5:127783543
|
A | G | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-13560A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783543 | ||||||
| chr5:127783737
|
G | A | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-13366G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127783737 | ||||||
| chr5:127784248
|
G | A | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-12855G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127784248 | ||||||
| chr5:127784349
|
A | G | 68 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(65): Show | 68 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.223-12754A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127784349 | ||||||
| chr5:127784508
|
G | A | 1 | a0001c0001t0001g0182 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.223-12595G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127784508 | ||||||
| chr5:127784582
|
G | A | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.223-12521G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127784582 | ||||||
| chr5:127784926
|
A | G | 1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.223-12177A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127784926 | ||||||
| chr5:127785044
|
A | G | 74 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(71): Show | 74 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(71): Show |
intron_variant | MODIFIER | c.223-12059A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785044 | ||||||
| chr5:127785057
|
T | C | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.223-12046T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785057 | ||||||
| chr5:127785060
|
A | T | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.223-12043A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785060 | ||||||
| chr5:127785119
|
G | A | 3 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | NA18970.hp1 NA19010.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.223-11984G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785119 | ||||||
| chr5:127785174
|
A | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.223-11929A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785174 | ||||||
| chr5:127785234
|
A | G | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.223-11869A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785234 | ||||||
| chr5:127785239
|
G | A | 1 | a0001c0001t0001g0178 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.223-11864G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785239 | ||||||
| chr5:127785937
|
A | G | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(2): Show | 5 | HG01167.hp1 HG02004.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.223-11166A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785937 | ||||||
| chr5:127785939
|
G | A | 32 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.223-11164G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127785939 | ||||||
| chr5:127786007
|
C | A | 5 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | HG02040.hp2 HG02135.hp2 NA19002.hp2 others(2): Show |
intron_variant | MODIFIER | c.223-11096C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786007 | ||||||
| chr5:127786210
|
A | T | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-10893A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786210 | ||||||
| chr5:127786470
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-10633G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786470 | ||||||
| chr5:127786477
|
C | T | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(2): Show | 5 | HG01167.hp1 HG02004.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.223-10626C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786477 | ||||||
| chr5:127786545
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-10558C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786545 | ||||||
| chr5:127786587
|
C | A | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.223-10516C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786587 | ||||||
| chr5:127786620
|
G | A | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.223-10483G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786620 | ||||||
| chr5:127786703
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.223-10400G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786703 | ||||||
| chr5:127786770
|
C | G | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.223-10333C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786770 | ||||||
| chr5:127786800
|
G | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.223-10303G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786800 | ||||||
| chr5:127786929
|
G | T | 2 | a0001c0001t0001g0233a0001c0001t0001g0234 | 2 | HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.223-10174G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786929 | ||||||
| chr5:127786994
|
G | C | 1 | a0001c0001t0001g0018 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.223-10109G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127786994 | ||||||
| chr5:127787028
|
C | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.223-10075C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787028 | ||||||
| chr5:127787070
|
G | A | 2 | a0001c0001t0001g0135a0001c0001t0001g0136 | 2 | NA18941.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.223-10033G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787070 | ||||||
| chr5:127787220
|
C | T | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.223-9883C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787220 | ||||||
| chr5:127787523
|
G | A | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.223-9580G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787523 | ||||||
| chr5:127787607
|
A | C | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.223-9496A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787607 | ||||||
| chr5:127787778
|
A | G | 1 | a0001c0001t0001g0042 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.223-9325A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127787778 | ||||||
| chr5:127788083
|
G | GA | 113 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(110): Show | 113 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(110): Show |
intron_variant | MODIFIER | c.223-9000dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127788083 | |||||
| chr5:127788083
|
G | GAA | 55 | a0001c0001t0001g0063a0001c0001t0001g0074a0001c0001t0001g0110others(52): Show | 55 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.223-9001_223-9000d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127788083 | |||||
| chr5:127788126
|
A | G | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.223-8977A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127788126 | ||||||
| chr5:127788476
|
A | G | 1 | a0001c0001t0001g0138 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.223-8627A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127788476 | ||||||
| chr5:127788548
|
C | T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.223-8555C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127788548 | ||||||
| chr5:127788747
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-8356C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127788747 | ||||||
| chr5:127788872
|
G | C | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.223-8231G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127788872 | ||||||
| chr5:127789066
|
C | A | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.223-8037C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789066 | ||||||
| chr5:127789138
|
T | C | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-7965T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789138 | ||||||
| chr5:127789356
|
G | C | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.223-7747G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789356 | ||||||
| chr5:127789499
|
C | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.223-7604C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789499 | ||||||
| chr5:127789627
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.223-7476C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789627 | ||||||
| chr5:127789628
|
G | A | 1 | a0001c0001t0001g0123 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.223-7475G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789628 | ||||||
| chr5:127789690
|
G | T | 47 | a0001c0001t0001g0020a0001c0001t0001g0149a0001c0001t0001g0150others(44): Show | 47 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.223-7413G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789690 | ||||||
| chr5:127789777
|
G | T | 1 | a0001c0001t0001g0009 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.223-7326G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789777 | ||||||
| chr5:127789822
|
A | G | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.223-7281A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789822 | ||||||
| chr5:127789922
|
C | T | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-7181C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127789922 | ||||||
| chr5:127790051
|
G | C | 4 | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0133others(1): Show | 4 | HG01255.hp1 HG03942.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.223-7052G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790051 | ||||||
| chr5:127790070
|
T | C | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.223-7033T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790070 | ||||||
| chr5:127790283
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.223-6820T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790283 | ||||||
| chr5:127790336
|
T | C | 3 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0055 | 3 | NA19010.hp2 NA19054.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.223-6767T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790336 | ||||||
| chr5:127790420
|
C | T | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.223-6683C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790420 | ||||||
| chr5:127790496
|
C | T | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.223-6607C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790496 | ||||||
| chr5:127790581
|
G | A | 1 | a0001c0002t0001g0037 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.223-6522G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790581 | ||||||
| chr5:127790668
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-6435C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790668 | ||||||
| chr5:127790785
|
A | G | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.223-6318A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790785 | ||||||
| chr5:127790794
|
A | G | 3 | a0001c0001t0001g0095a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02055.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.223-6309A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127790794 | ||||||
| chr5:127791155
|
A | G | 196 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(193): Show |
intron_variant | MODIFIER | c.223-5948A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791155 | ||||||
| chr5:127791211
|
T | C | 1 | a0001c0001t0001g0114 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.223-5892T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791211 | ||||||
| chr5:127791360
|
A | G | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.223-5743A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791360 | ||||||
| chr5:127791436
|
T | C | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.223-5667T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791436 | ||||||
| chr5:127791445
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.223-5658T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791445 | ||||||
| chr5:127791458
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-5645A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791458 | ||||||
| chr5:127791600
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.223-5503C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791600 | ||||||
| chr5:127791770
|
T | C | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.223-5333T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791770 | ||||||
| chr5:127791976
|
A | C | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.223-5127A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127791976 | ||||||
| chr5:127792147
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.223-4956A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127792147 | ||||||
| chr5:127792525
|
C | CAT | 78 | a0001c0001t0001g0020a0001c0001t0001g0073a0001c0001t0001g0074others(75): Show | 78 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.223-4557_223-4556d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792525
|
C | CATAT | 9 | a0001c0001t0001g0032a0001c0001t0001g0108a0001c0001t0001g0183others(6): Show | 9 | HG00597.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.223-4559_223-4556d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792525
|
C | CATATAT | 4 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0165others(1): Show | 4 | HG02071.hp2 HG03834.hp2 NA19062.hp2 others(1): Show |
intron_variant | MODIFIER | c.223-4561_223-4556d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792525
|
C | CATATATA others(11): Show |
1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.223-4573_223-4556d others(20): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792525
|
C | CATATATA others(19): Show |
1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.223-4556_223-4555i others(28): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792525
|
CAT | C | 13 | a0001c0001t0001g0202a0001c0002t0001g0013a0001c0002t0001g0023others(10): Show | 13 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(10): Show |
intron_variant | MODIFIER | c.223-4557_223-4556d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792525 | |||||
| chr5:127792649
|
G | T | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.223-4454G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127792649 | ||||||
| chr5:127792812
|
GGAA | G | 100 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0024others(97): Show | 100 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(97): Show |
intron_variant | MODIFIER | c.223-4277_223-4275d others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792812 | |||||
| chr5:127792823
|
AAGAAGG | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.223-4277_223-4272d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792823 | |||||
| chr5:127792823
|
AAGAAGGA others(2): Show |
A | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.223-4277_223-4269d others(11): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127792823 | |||||
| chr5:127793272
|
G | C | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.223-3831G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127793272 | ||||||
| chr5:127793362
|
C | G | 2 | a0001c0001t0001g0109a0001c0001t0001g0137 | 2 | HG01256.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.223-3741C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127793362 | ||||||
| chr5:127793417
|
A | G | 4 | a0001c0001t0001g0110a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.223-3686A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127793417 | ||||||
| chr5:127793478
|
G | C | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.223-3625G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127793478 | ||||||
| chr5:127794117
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.223-2986G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794117 | ||||||
| chr5:127794163
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.223-2940T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794163 | ||||||
| chr5:127794339
|
G | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.223-2764G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794339 | ||||||
| chr5:127794474
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.223-2629G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794474 | ||||||
| chr5:127794609
|
G | A | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.223-2494G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794609 | ||||||
| chr5:127794660
|
TTACA | T | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.223-2440_223-2437d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127794660 | |||||
| chr5:127794693
|
A | G | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.223-2410A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127794693 | ||||||
| chr5:127795189
|
C | T | 67 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(64): Show | 67 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.223-1914C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127795189 | ||||||
| chr5:127795191
|
G | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0046 | 2 | HG02717.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.223-1912G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127795191 | ||||||
| chr5:127795289
|
C | CA | 22 | a0001c0001t0001g0109a0001c0001t0001g0137a0001c0001t0001g0141others(19): Show | 22 | HG00642.hp1 HG01256.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.223-1793dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127795289 | |||||
| chr5:127795289
|
CA | C | 95 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(92): Show | 95 | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(92): Show |
intron_variant | MODIFIER | c.223-1793delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | 127795289 | |||||
| chr5:127795304
|
A | G | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.223-1799A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127795304 | ||||||
| chr5:127795870
|
G | A | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.223-1233G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127795870 | ||||||
| chr5:127796087
|
C | T | 1 | a0001c0002t0001g0036 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.223-1016C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127796087 | ||||||
| chr5:127796104
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.223-999C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127796104 | ||||||
| chr5:127796162
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.223-941G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127796162 | ||||||
| chr5:127797052
|
C | A | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.223-51C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127797052 | ||||||
| chr5:127797089
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.223-14G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 3/6 | chr5 | 127797089 | ||||||
| chr5:127797603
|
A | G | 2 | a0002c0005t0001g0106a0002c0005t0001g0107 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.354+369A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797603 | ||||||
| chr5:127797731
|
GTA | G | 11 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0110others(8): Show | 11 | HG00323.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.355-329_355-328del others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATA | G | 2 | a0001c0001t0001g0109a0001c0001t0001g0142 | 2 | NA19066.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.355-331_355-328del others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATA | G | 9 | a0001c0001t0001g0004a0001c0001t0001g0125a0001c0001t0001g0126others(6): Show | 9 | HG01256.hp1 HG02630.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.355-333_355-328del others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(1): Show |
G | 8 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(5): Show | 8 | HG01243.hp2 HG02717.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.355-335_355-328del others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(3): Show |
G | 11 | a0001c0001t0001g0030a0001c0001t0001g0074a0001c0001t0001g0101others(8): Show | 11 | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.355-337_355-328del others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(5): Show |
G | 13 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0144others(10): Show | 13 | HG02071.hp1 HG02132.hp1 HG02602.hp1 others(10): Show |
intron_variant | MODIFIER | c.355-339_355-328del others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(7): Show |
G | 38 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0045others(35): Show | 38 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.355-341_355-328del others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(9): Show |
G | 9 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0095others(6): Show | 9 | HG02055.hp2 HG02258.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.355-343_355-328del others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(11): Show |
G | 105 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(102): Show | 105 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.355-345_355-328del others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(13): Show |
G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.355-347_355-328del others(20): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797731
|
GTATATAT others(15): Show |
G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.355-349_355-328del others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797731 | |||||
| chr5:127797767
|
A | T | 22 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0045others(19): Show | 22 | HG00642.hp1 HG01070.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.355-339A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797767 | ||||||
| chr5:127797769
|
ATATATAT others(3): Show |
A | 1 | a0001c0001t0001g0132 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.355-333_355-324del others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797769 | |||||
| chr5:127797771
|
A | T | 147 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(144): Show | 147 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.355-335A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797771 | ||||||
| chr5:127797775
|
A | T | 192 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(189): Show | 192 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(189): Show |
intron_variant | MODIFIER | c.355-331A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797775 | ||||||
| chr5:127797777
|
ATT | A | 3 | a0001c0001t0001g0122a0001c0001t0001g0134a0001c0001t0001g0143 | 3 | HG01255.hp1 HG02965.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.355-327_355-326del others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | 127797777 | |||||
| chr5:127797779
|
T | A | 6 | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0136others(3): Show | 6 | HG02922.hp1 HG03130.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.355-327T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797779 | ||||||
| chr5:127797829
|
C | T | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.355-277C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797829 | ||||||
| chr5:127797918
|
T | C | 3 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0055 | 3 | NA19010.hp2 NA19054.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.355-188T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797918 | ||||||
| chr5:127797947
|
A | G | 48 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0149others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.355-159A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 4/6 | chr5 | 127797947 | ||||||
| chr5:127798592
|
G | A | 1 | a0001c0006t0001g0124 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.411+430G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127798592 | ||||||
| chr5:127798700
|
T | G | 6 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+538T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127798700 | ||||||
| chr5:127798710
|
A | AT | 3 | a0001c0003t0001g0090a0001c0003t0001g0091a0001c0003t0001g0092 | 3 | HG02922.hp2 HG03041.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.411+554dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127798710 | |||||
| chr5:127798817
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.411+655C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127798817 | ||||||
| chr5:127798917
|
A | G | 230 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(227): Show | 230 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(227): Show |
intron_variant | MODIFIER | c.411+755A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127798917 | ||||||
| chr5:127798967
|
C | A | 11 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.411+805C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127798967 | ||||||
| chr5:127799138
|
C | T | 3 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025 | 3 | HG02896.hp2 HG03195.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.411+976C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799138 | ||||||
| chr5:127799168
|
A | G | 1 | a0001c0001t0001g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.411+1006A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799168 | ||||||
| chr5:127799211
|
G | A | 1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.411+1049G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799211 | ||||||
| chr5:127799368
|
G | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+1206G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799368 | ||||||
| chr5:127799560
|
A | G | 65 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(62): Show | 65 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.411+1398A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799560 | ||||||
| chr5:127799732
|
G | A | 1 | a0001c0006t0001g0124 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.411+1570G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799732 | ||||||
| chr5:127799917
|
G | A | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.411+1755G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799917 | ||||||
| chr5:127799946
|
T | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+1784T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127799946 | ||||||
| chr5:127800259
|
C | T | 2 | a0001c0001t0001g0116a0001c0001t0001g0230 | 2 | HG03540.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.411+2097C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800259 | ||||||
| chr5:127800339
|
T | C | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+2177T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800339 | ||||||
| chr5:127800376
|
G | GA | 55 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0015others(52): Show | 55 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.411+2239dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAA | 31 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0019others(28): Show | 31 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.411+2238_411+2239d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAA | 7 | a0001c0001t0001g0006a0001c0001t0001g0078a0001c0001t0001g0152others(4): Show | 7 | HG01891.hp1 HG02602.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.411+2237_411+2239d others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAA | 12 | a0001c0001t0001g0024a0001c0001t0001g0094a0001c0002t0001g0023others(9): Show | 12 | HG00642.hp1 HG01884.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.411+2236_411+2239d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAA | 5 | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0002t0001g0029others(2): Show | 5 | HG02258.hp1 HG02896.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.411+2235_411+2239d others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAA | 5 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0104others(2): Show | 5 | HG01891.hp2 HG02886.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.411+2234_411+2239d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(1): Show |
5 | a0001c0001t0001g0102a0001c0001t0001g0123a0001c0001t0001g0234others(2): Show | 5 | HG02886.hp1 HG02976.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.411+2232_411+2239d others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(6): Show |
3 | a0001c0001t0001g0144a0001c0001t0001g0202a0001c0001t0001g0223 | 3 | HG01993.hp2 HG02895.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.411+2227_411+2239d others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(7): Show |
10 | a0001c0001t0001g0074a0001c0001t0001g0200a0001c0001t0001g0206others(7): Show | 10 | HG02132.hp1 NA18522.hp2 NA18941.hp2 others(7): Show |
intron_variant | MODIFIER | c.411+2226_411+2239d others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(8): Show |
13 | a0001c0001t0001g0201a0001c0001t0001g0208a0001c0001t0001g0210others(10): Show | 13 | HG00438.hp1 HG01884.hp2 HG02602.hp1 others(10): Show |
intron_variant | MODIFIER | c.411+2225_411+2239d others(17): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(9): Show |
2 | a0001c0001t0001g0209a0001c0006t0001g0124 | 2 | HG00597.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.411+2224_411+2239d others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(11): Show |
2 | a0001c0001t0001g0207a0001c0001t0001g0213 | 2 | HG02071.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.411+2222_411+2239d others(20): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(16): Show |
1 | a0001c0001t0001g0204 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.411+2217_411+2239d others(25): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800376
|
G | GAAAAAAA others(18): Show |
1 | a0001c0001t0001g0205 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.411+2215_411+2239d others(27): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800376 | |||||
| chr5:127800388
|
A | C | 1 | a0001c0001t0001g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.411+2226A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800388 | ||||||
| chr5:127800392
|
AAAAAAAA others(6): Show |
A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+2233_411+2245d others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800392 | |||||
| chr5:127800393
|
A | C | 4 | a0001c0001t0001g0040a0001c0001t0001g0059a0001c0001t0001g0077others(1): Show | 4 | HG00738.hp2 HG01175.hp2 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+2231A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800393 | ||||||
| chr5:127800394
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+2232A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800394 | ||||||
| chr5:127800400
|
A | AC | 2 | a0001c0001t0001g0008a0001c0001t0001g0035 | 2 | HG04228.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.411+2238_411+2239i others(3): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800400 | ||||||
| chr5:127800401
|
AC | A | 5 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(2): Show | 5 | HG01081.hp2 HG02257.hp1 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.411+2240delC | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800401 | ||||||
| chr5:127800402
|
C | A | 148 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(145): Show | 148 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.411+2240C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800402 | ||||||
| chr5:127800402
|
C | CAA | 16 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0034others(13): Show | 16 | HG00738.hp1 HG00738.hp2 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.411+2241_411+2242d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127800402 | |||||
| chr5:127800405
|
C | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+2243C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800405 | ||||||
| chr5:127800519
|
A | G | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.411+2357A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800519 | ||||||
| chr5:127800634
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.411+2472C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800634 | ||||||
| chr5:127800776
|
T | C | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+2614T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800776 | ||||||
| chr5:127800906
|
C | A | 1 | a0001c0001t0001g0048 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.411+2744C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800906 | ||||||
| chr5:127800906
|
C | T | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.411+2744C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127800906 | ||||||
| chr5:127801067
|
G | C | 3 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0055 | 3 | NA19010.hp2 NA19054.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.411+2905G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801067 | ||||||
| chr5:127801173
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.411+3011G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801173 | ||||||
| chr5:127801664
|
A | T | 1 | a0001c0001t0001g0187 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.411+3502A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801664 | ||||||
| chr5:127801779
|
G | T | 67 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(64): Show | 67 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.411+3617G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801779 | ||||||
| chr5:127801815
|
A | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+3653A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801815 | ||||||
| chr5:127801860
|
C | G | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.411+3698C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127801860 | ||||||
| chr5:127802004
|
A | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+3842A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802004 | ||||||
| chr5:127802118
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.411+3956C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802118 | ||||||
| chr5:127802465
|
C | T | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.411+4303C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802465 | ||||||
| chr5:127802618
|
G | A | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.411+4456G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802618 | ||||||
| chr5:127802908
|
A | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+4746A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802908 | ||||||
| chr5:127802948
|
A | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+4786A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127802948 | ||||||
| chr5:127803050
|
C | G | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.411+4888C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803050 | ||||||
| chr5:127803082
|
A | G | 1 | a0001c0001t0001g0063 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.411+4920A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803082 | ||||||
| chr5:127803373
|
C | T | 1 | a0001c0001t0001g0061 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.411+5211C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803373 | ||||||
| chr5:127803390
|
G | C | 2 | a0001c0001t0001g0165a0001c0001t0001g0171 | 2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.411+5228G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803390 | ||||||
| chr5:127803490
|
T | C | 3 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0123 | 3 | HG02109.hp1 HG03041.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.411+5328T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803490 | ||||||
| chr5:127803524
|
G | A | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.411+5362G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803524 | ||||||
| chr5:127803637
|
C | A | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.411+5475C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803637 | ||||||
| chr5:127803924
|
G | A | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.411+5762G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127803924 | ||||||
| chr5:127804251
|
C | T | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.411+6089C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804251 | ||||||
| chr5:127804274
|
A | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+6112A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804274 | ||||||
| chr5:127804287
|
C | A | 14 | a0001c0002t0001g0013a0001c0002t0001g0023a0001c0002t0001g0027others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.411+6125C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804287 | ||||||
| chr5:127804374
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.411+6212A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804374 | ||||||
| chr5:127804763
|
T | A | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.411+6601T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804763 | ||||||
| chr5:127804794
|
C | A | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.411+6632C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804794 | ||||||
| chr5:127804859
|
C | T | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.411+6697C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804859 | ||||||
| chr5:127804987
|
G | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+6825G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127804987 | ||||||
| chr5:127805370
|
G | A | 233 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(230): Show | 233 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(230): Show |
intron_variant | MODIFIER | c.411+7208G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127805370 | ||||||
| chr5:127805527
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+7365G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127805527 | ||||||
| chr5:127805650
|
T | G | 6 | a0001c0001t0001g0122a0001c0001t0001g0130a0001c0001t0001g0131others(3): Show | 6 | HG00735.hp2 HG01255.hp1 HG02698.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+7488T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127805650 | ||||||
| chr5:127806086
|
A | C | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.411+7924A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806086 | ||||||
| chr5:127806171
|
A | C | 7 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.411+8009A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806171 | ||||||
| chr5:127806270
|
T | C | 4 | a0001c0001t0001g0095a0001c0001t0001g0170a0001c0001t0001g0181others(1): Show | 4 | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+8108T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806270 | ||||||
| chr5:127806482
|
C | G | 188 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(185): Show | 188 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(185): Show |
intron_variant | MODIFIER | c.411+8320C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806482 | ||||||
| chr5:127806634
|
A | ATT | 190 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(187): Show | 190 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.411+8472_411+8473i others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806634 | ||||||
| chr5:127806745
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+8583A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806745 | ||||||
| chr5:127806790
|
CT | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+8629delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806790 | ||||||
| chr5:127806895
|
C | T | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.411+8733C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806895 | ||||||
| chr5:127806963
|
T | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+8801T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127806963 | ||||||
| chr5:127807167
|
A | G | 48 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0149others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.411+9005A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127807167 | ||||||
| chr5:127807249
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.411+9087A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127807249 | ||||||
| chr5:127807331
|
T | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+9169T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127807331 | ||||||
| chr5:127807962
|
T | C | 27 | a0001c0001t0001g0074a0001c0001t0001g0200a0001c0001t0001g0201others(24): Show | 27 | HG00438.hp1 HG00597.hp2 HG02004.hp1 others(24): Show |
intron_variant | MODIFIER | c.411+9800T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127807962 | ||||||
| chr5:127807980
|
G | A | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(15): Show |
intron_variant | MODIFIER | c.411+9818G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127807980 | ||||||
| chr5:127808057
|
A | G | 2 | a0001c0001t0001g0051a0001c0001t0001g0053 | 2 | NA18966.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.411+9895A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808057 | ||||||
| chr5:127808112
|
A | G | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+9950A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808112 | ||||||
| chr5:127808180
|
C | T | 4 | a0001c0001t0001g0095a0001c0001t0001g0170a0001c0001t0001g0181others(1): Show | 4 | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+10018C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808180 | ||||||
| chr5:127808505
|
T | C | 66 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 66 | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.411+10343T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808505 | ||||||
| chr5:127808633
|
C | G | 1 | a0001c0001t0001g0114 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.411+10471C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808633 | ||||||
| chr5:127808807
|
T | A | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.411+10645T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808807 | ||||||
| chr5:127808989
|
A | G | 48 | a0001c0001t0001g0020a0001c0001t0001g0095a0001c0001t0001g0149others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.411+10827A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127808989 | ||||||
| chr5:127809014
|
A | G | 1 | a0001c0001t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.411+10852A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809014 | ||||||
| chr5:127809142
|
A | G | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.411+10980A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809142 | ||||||
| chr5:127809242
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.411+11080T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809242 | ||||||
| chr5:127809308
|
GA | G | 19 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(16): Show | 19 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.411+11154delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127809308 | |||||
| chr5:127809430
|
T | G | 2 | a0001c0001t0001g0104a0001c0001t0001g0123 | 2 | HG03041.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.411+11268T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809430 | ||||||
| chr5:127809487
|
A | T | 33 | a0001c0001t0001g0074a0001c0001t0001g0144a0001c0001t0001g0200others(30): Show | 33 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.411+11325A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809487 | ||||||
| chr5:127809737
|
G | A | 3 | a0001c0002t0001g0084a0001c0002t0001g0085a0001c0002t0001g0086 | 3 | HG02258.hp1 HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.411+11575G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809737 | ||||||
| chr5:127809854
|
C | T | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.411+11692C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127809854 | ||||||
| chr5:127810028
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.411+11866A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127810028 | ||||||
| chr5:127810405
|
C | T | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.411+12243C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127810405 | ||||||
| chr5:127810620
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.411+12458G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127810620 | ||||||
| chr5:127810723
|
A | C | 2 | a0001c0001t0001g0038a0001c0001t0001g0048 | 2 | NA18988.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.411+12561A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127810723 | ||||||
| chr5:127810871
|
A | G | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.411+12709A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127810871 | ||||||
| chr5:127811015
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.411+12853C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811015 | ||||||
| chr5:127811105
|
A | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+12943A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811105 | ||||||
| chr5:127811251
|
T | C | 6 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070others(3): Show | 6 | HG02895.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+13089T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811251 | ||||||
| chr5:127811479
|
A | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+13317A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811479 | ||||||
| chr5:127811513
|
T | C | 2 | a0001c0001t0001g0021a0001c0001t0001g0058 | 2 | HG02273.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.411+13351T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811513 | ||||||
| chr5:127811690
|
C | T | 44 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0038others(41): Show | 44 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.411+13528C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811690 | ||||||
| chr5:127811700
|
A | G | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.411+13538A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811700 | ||||||
| chr5:127811781
|
G | A | 4 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070others(1): Show | 4 | HG02896.hp1 HG02976.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+13619G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811781 | ||||||
| chr5:127811855
|
T | C | 130 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(127): Show | 130 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.411+13693T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127811855 | ||||||
| chr5:127812010
|
C | G | 3 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0123 | 3 | HG02109.hp1 HG03041.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.411+13848C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812010 | ||||||
| chr5:127812073
|
C | T | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.411+13911C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812073 | ||||||
| chr5:127812111
|
C | A | 136 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(133): Show | 136 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.411+13949C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812111 | ||||||
| chr5:127812190
|
A | C | 72 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.411+14028A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812190 | ||||||
| chr5:127812405
|
G | C | 2 | a0001c0001t0001g0077a0001c0001t0001g0080 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.411+14243G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812405 | ||||||
| chr5:127812423
|
T | C | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG02615.hp2 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+14261T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812423 | ||||||
| chr5:127812487
|
T | C | 4 | a0001c0002t0001g0085a0002c0005t0001g0106a0002c0005t0001g0107others(1): Show | 4 | HG02258.hp1 HG02615.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+14325T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812487 | ||||||
| chr5:127812664
|
C | T | 1 | a0001c0003t0001g0092 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.411+14502C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812664 | ||||||
| chr5:127812922
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.411+14760C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127812922 | ||||||
| chr5:127813153
|
G | A | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+14991G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813153 | ||||||
| chr5:127813163
|
C | T | 9 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(6): Show | 9 | HG00642.hp1 HG01884.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.411+15001C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813163 | ||||||
| chr5:127813284
|
C | T | 2 | a0001c0001t0001g0138a0001c0001t0001g0148 | 2 | HG00408.hp2 NA18961.hp1 |
intron_variant | MODIFIER | c.411+15122C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813284 | ||||||
| chr5:127813470
|
T | A | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+15308T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813470 | ||||||
| chr5:127813615
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+15453C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813615 | ||||||
| chr5:127813751
|
C | T | 1 | a0001c0001t0001g0216 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.411+15589C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813751 | ||||||
| chr5:127813832
|
AT | A | 3 | a0001c0001t0001g0164a0001c0001t0001g0189a0001c0001t0001g0195 | 3 | HG00642.hp2 HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.411+15672delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127813832 | |||||
| chr5:127813883
|
T | C | 4 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0045others(1): Show | 4 | HG01070.hp1 HG01099.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+15721T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813883 | ||||||
| chr5:127813920
|
A | G | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.411+15758A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813920 | ||||||
| chr5:127813921
|
G | C | 3 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0230 | 3 | HG03209.hp1 HG03540.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.411+15759G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813921 | ||||||
| chr5:127813952
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.411+15790A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127813952 | ||||||
| chr5:127814151
|
A | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+15989A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814151 | ||||||
| chr5:127814169
|
C | T | 71 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(68): Show | 71 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.411+16007C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814169 | ||||||
| chr5:127814228
|
T | C | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+16066T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814228 | ||||||
| chr5:127814241
|
C | T | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.411+16079C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814241 | ||||||
| chr5:127814261
|
G | A | 4 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070others(1): Show | 4 | HG02896.hp1 HG02976.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+16099G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814261 | ||||||
| chr5:127814295
|
C | T | 3 | a0001c0002t0001g0085a0002c0005t0001g0106a0002c0005t0001g0107 | 3 | HG02258.hp1 HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.411+16133C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814295 | ||||||
| chr5:127814326
|
A | T | 1 | a0001c0001t0001g0191 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.411+16164A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814326 | ||||||
| chr5:127814484
|
G | C | 121 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(118): Show | 121 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(118): Show |
intron_variant | MODIFIER | c.411+16322G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814484 | ||||||
| chr5:127814492
|
T | C | 1 | a0001c0001t0001g0175 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.411+16330T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814492 | ||||||
| chr5:127814678
|
T | C | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+16516T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814678 | ||||||
| chr5:127814698
|
G | A | 1 | a0001c0003t0001g0091 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.411+16536G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814698 | ||||||
| chr5:127814755
|
C | A | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.411+16593C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127814755 | ||||||
| chr5:127815099
|
G | A | 12 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097others(9): Show | 12 | HG00642.hp1 HG01081.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.411+16937G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815099 | ||||||
| chr5:127815111
|
G | C | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.411+16949G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815111 | ||||||
| chr5:127815188
|
A | G | 64 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(61): Show | 64 | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.411+17026A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815188 | ||||||
| chr5:127815280
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.411+17118G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815280 | ||||||
| chr5:127815311
|
C | T | 206 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(203): Show | 206 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(203): Show |
intron_variant | MODIFIER | c.411+17149C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815311 | ||||||
| chr5:127815725
|
A | G | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+17563A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815725 | ||||||
| chr5:127815742
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+17580C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815742 | ||||||
| chr5:127815773
|
C | T | 1 | a0001c0001t0001g0137 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.411+17611C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815773 | ||||||
| chr5:127815854
|
C | T | 10 | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0043others(7): Show | 10 | HG02056.hp1 HG02132.hp2 NA18963.hp1 others(7): Show |
intron_variant | MODIFIER | c.411+17692C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815854 | ||||||
| chr5:127815855
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.411+17693G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815855 | ||||||
| chr5:127815878
|
T | A | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+17716T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815878 | ||||||
| chr5:127815880
|
A | AT | 2 | a0001c0001t0001g0232a0003c0004t0001g0089 | 2 | HG01243.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.411+17718_411+1771 others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815880 | ||||||
| chr5:127815924
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+17762C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815924 | ||||||
| chr5:127815925
|
C | A | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+17763C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815925 | ||||||
| chr5:127815966
|
A | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.411+17804A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127815966 | ||||||
| chr5:127816071
|
A | G | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+17909A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816071 | ||||||
| chr5:127816235
|
G | T | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.411+18073G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816235 | ||||||
| chr5:127816248
|
A | T | 1 | a0001c0001t0001g0194 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.411+18086A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816248 | ||||||
| chr5:127816280
|
T | C | 1 | a0001c0001t0001g0113 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.411+18118T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816280 | ||||||
| chr5:127816284
|
A | G | 122 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(119): Show | 122 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(119): Show |
intron_variant | MODIFIER | c.411+18122A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816284 | ||||||
| chr5:127816328
|
T | A | 1 | a0001c0001t0001g0121 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.411+18166T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816328 | ||||||
| chr5:127816413
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.411+18251G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816413 | ||||||
| chr5:127816543
|
A | G | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+18381A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816543 | ||||||
| chr5:127816942
|
A | G | 72 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.411+18780A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816942 | ||||||
| chr5:127816951
|
T | C | 44 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0038others(41): Show | 44 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.411+18789T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127816951 | ||||||
| chr5:127817196
|
G | A | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.411+19034G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817196 | ||||||
| chr5:127817413
|
G | T | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+19251G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817413 | ||||||
| chr5:127817619
|
G | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+19457G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817619 | ||||||
| chr5:127817632
|
G | A | 4 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0202others(1): Show | 4 | HG02970.hp2 HG03209.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+19470G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817632 | ||||||
| chr5:127817651
|
T | A | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+19489T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817651 | ||||||
| chr5:127817690
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+19528C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817690 | ||||||
| chr5:127817708
|
A | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0088a0001c0001t0001g0096others(10): Show | 13 | HG00642.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.411+19546A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817708 | ||||||
| chr5:127817826
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.411+19664A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817826 | ||||||
| chr5:127817853
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0097 | 3 | HG02630.hp1 HG03139.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.411+19691T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127817853 | ||||||
| chr5:127818009
|
G | A | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+19847G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818009 | ||||||
| chr5:127818089
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+19927C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818089 | ||||||
| chr5:127818091
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+19929C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818091 | ||||||
| chr5:127818130
|
A | G | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG01081.hp2 HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.411+19968A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818130 | ||||||
| chr5:127818142
|
TA | T | 9 | a0001c0001t0001g0226a0001c0001t0001g0232a0001c0002t0001g0044others(6): Show | 9 | HG01243.hp1 HG02886.hp2 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.411+19981delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818142 | ||||||
| chr5:127818297
|
T | C | 1 | a0001c0001t0001g0152 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.411+20135T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818297 | ||||||
| chr5:127818327
|
T | C | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+20165T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818327 | ||||||
| chr5:127818468
|
T | A | 4 | a0001c0002t0001g0085a0002c0005t0001g0106a0002c0005t0001g0107others(1): Show | 4 | HG02258.hp1 HG02615.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+20306T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818468 | ||||||
| chr5:127818590
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.411+20428T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818590 | ||||||
| chr5:127818663
|
A | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+20501A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818663 | ||||||
| chr5:127818673
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+20511C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127818673 | ||||||
| chr5:127819234
|
C | T | 1 | a0001c0001t0001g0148 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.411+21072C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819234 | ||||||
| chr5:127819235
|
G | A | 72 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.411+21073G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819235 | ||||||
| chr5:127819309
|
G | T | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+21147G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819309 | ||||||
| chr5:127819434
|
C | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.411+21272C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819434 | ||||||
| chr5:127819515
|
T | G | 2 | a0001c0002t0001g0084a0001c0002t0001g0086 | 2 | HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.411+21353T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819515 | ||||||
| chr5:127819713
|
C | T | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+21551C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127819713 | ||||||
| chr5:127820046
|
T | G | 3 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0230 | 3 | HG03209.hp1 HG03540.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.411+21884T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820046 | ||||||
| chr5:127820054
|
T | A | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.411+21892T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820054 | ||||||
| chr5:127820319
|
C | T | 1 | a0001c0001t0001g0171 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.411+22157C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820319 | ||||||
| chr5:127820361
|
C | T | 44 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0038others(41): Show | 44 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.411+22199C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820361 | ||||||
| chr5:127820458
|
G | A | 6 | a0001c0001t0001g0232a0001c0002t0001g0044a0001c0002t0001g0069others(3): Show | 6 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+22296G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820458 | ||||||
| chr5:127820926
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.411+22764G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127820926 | ||||||
| chr5:127821013
|
T | C | 1 | a0001c0001t0001g0164 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.411+22851T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821013 | ||||||
| chr5:127821024
|
T | TACATGTA others(7): Show |
1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.411+22867_411+2288 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127821024 | |||||
| chr5:127821032
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+22870C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821032 | ||||||
| chr5:127821065
|
G | A | 2 | a0001c0001t0001g0132a0001c0001t0001g0134 | 2 | HG03942.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.411+22903G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821065 | ||||||
| chr5:127821068
|
A | C | 120 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(117): Show | 120 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.411+22906A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821068 | ||||||
| chr5:127821323
|
T | C | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(2): Show | 5 | HG01167.hp1 HG02004.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.411+23161T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821323 | ||||||
| chr5:127821445
|
C | T | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.411+23283C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821445 | ||||||
| chr5:127821485
|
A | C | 7 | a0001c0001t0001g0104a0001c0001t0001g0108a0001c0001t0001g0115others(4): Show | 7 | HG01243.hp2 HG01884.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.411+23323A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821485 | ||||||
| chr5:127821726
|
T | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+23564T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821726 | ||||||
| chr5:127821735
|
A | G | 9 | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0024others(6): Show | 9 | HG02258.hp1 HG02615.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.411+23573A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127821735 | ||||||
| chr5:127822090
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.411+23928C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822090 | ||||||
| chr5:127822138
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.411+23976C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822138 | ||||||
| chr5:127822139
|
G | A | 1 | a0001c0001t0001g0160 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.411+23977G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822139 | ||||||
| chr5:127822227
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.411+24065C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822227 | ||||||
| chr5:127822277
|
A | G | 2 | a0001c0001t0001g0189a0001c0001t0001g0195 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.411+24115A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822277 | ||||||
| chr5:127822808
|
C | T | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.411+24646C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127822808 | ||||||
| chr5:127823074
|
G | A | 7 | a0001c0001t0001g0097a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+24912G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823074 | ||||||
| chr5:127823126
|
G | A | 1 | a0001c0001t0001g0144 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.411+24964G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823126 | ||||||
| chr5:127823292
|
T | A | 7 | a0001c0001t0001g0097a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+25130T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823292 | ||||||
| chr5:127823375
|
A | G | 1 | a0002c0005t0001g0106 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.411+25213A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823375 | ||||||
| chr5:127823709
|
G | C | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.411+25547G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823709 | ||||||
| chr5:127823830
|
C | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG02258.hp1 HG02886.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.411+25668C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127823830 | ||||||
| chr5:127824149
|
T | C | 1 | a0001c0001t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.411+25987T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824149 | ||||||
| chr5:127824242
|
T | C | 7 | a0001c0001t0001g0097a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+26080T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824242 | ||||||
| chr5:127824371
|
A | G | 7 | a0001c0001t0001g0097a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+26209A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824371 | ||||||
| chr5:127824599
|
A | G | 3 | a0001c0001t0001g0030a0001c0001t0001g0108a0001c0001t0001g0226 | 3 | HG01243.hp2 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+26437A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824599 | ||||||
| chr5:127824649
|
CAT | C | 2 | a0001c0001t0001g0113a0002c0005t0001g0107 | 2 | HG02809.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.411+26489_411+2649 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127824649 | |||||
| chr5:127824656
|
C | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+26494C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824656 | ||||||
| chr5:127824748
|
C | T | 5 | a0001c0001t0001g0215a0001c0001t0001g0217a0001c0001t0001g0220others(2): Show | 5 | NA18963.hp2 NA19058.hp1 NA19068.hp1 others(2): Show |
intron_variant | MODIFIER | c.411+26586C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824748 | ||||||
| chr5:127824749
|
G | A | 7 | a0001c0001t0001g0097a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02896.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+26587G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824749 | ||||||
| chr5:127824905
|
G | A | 3 | a0001c0001t0001g0030a0001c0001t0001g0192a0001c0001t0001g0226 | 3 | HG02818.hp1 HG02886.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.411+26743G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127824905 | ||||||
| chr5:127825018
|
G | A | 7 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02818.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+26856G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825018 | ||||||
| chr5:127825299
|
A | G | 7 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(4): Show | 7 | HG02258.hp1 HG02809.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.411+27137A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825299 | ||||||
| chr5:127825407
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.411+27245T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825407 | ||||||
| chr5:127825589
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+27427C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825589 | ||||||
| chr5:127825756
|
G | A | 233 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(230): Show | 233 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(230): Show |
intron_variant | MODIFIER | c.411+27594G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825756 | ||||||
| chr5:127825800
|
T | C | 2 | a0001c0001t0001g0057a0001c0001t0001g0065 | 2 | NA18977.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.411+27638T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825800 | ||||||
| chr5:127825829
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG00735.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.411+27667G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825829 | ||||||
| chr5:127825840
|
T | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+27678T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825840 | ||||||
| chr5:127825902
|
G | A | 1 | a0001c0001t0001g0168 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.411+27740G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127825902 | ||||||
| chr5:127826199
|
T | C | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.411+28037T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826199 | ||||||
| chr5:127826220
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.411+28058A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826220 | ||||||
| chr5:127826277
|
G | A | 105 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0024others(102): Show | 105 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(102): Show |
intron_variant | MODIFIER | c.411+28115G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826277 | ||||||
| chr5:127826379
|
T | C | 100 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0024others(97): Show | 100 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.411+28217T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826379 | ||||||
| chr5:127826473
|
A | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+28311A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826473 | ||||||
| chr5:127826634
|
G | A | 4 | a0001c0001t0001g0144a0001c0001t0001g0146a0001c0001t0001g0231others(1): Show | 4 | HG01884.hp2 HG02895.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+28472G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826634 | ||||||
| chr5:127826884
|
T | C | 183 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(180): Show | 183 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(180): Show |
intron_variant | MODIFIER | c.411+28722T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127826884 | ||||||
| chr5:127827206
|
C | G | 1 | a0001c0001t0001g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.411+29044C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827206 | ||||||
| chr5:127827310
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.411+29148A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827310 | ||||||
| chr5:127827317
|
A | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+29155A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827317 | ||||||
| chr5:127827535
|
G | T | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.411+29373G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827535 | ||||||
| chr5:127827608
|
G | A | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.411+29446G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827608 | ||||||
| chr5:127827891
|
A | G | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.411+29729A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827891 | ||||||
| chr5:127827969
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.411+29807C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127827969 | ||||||
| chr5:127828070
|
C | A | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.411+29908C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828070 | ||||||
| chr5:127828078
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+29916C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828078 | ||||||
| chr5:127828096
|
A | G | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+29934A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828096 | ||||||
| chr5:127828139
|
G | A | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.411+29977G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828139 | ||||||
| chr5:127828216
|
G | T | 10 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(7): Show | 10 | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.411+30054G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828216 | ||||||
| chr5:127828347
|
C | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+30185C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828347 | ||||||
| chr5:127828762
|
A | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+30600A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828762 | ||||||
| chr5:127828763
|
C | T | 102 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(99): Show | 102 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(99): Show |
intron_variant | MODIFIER | c.411+30601C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828763 | ||||||
| chr5:127828776
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.411+30614G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828776 | ||||||
| chr5:127828846
|
G | A | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+30684G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127828846 | ||||||
| chr5:127829067
|
T | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.411+30905T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127829067 | ||||||
| chr5:127829277
|
A | G | 1 | a0001c0001t0001g0148 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.411+31115A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127829277 | ||||||
| chr5:127829382
|
A | ATTAACT | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+31223_411+3122 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127829382 | |||||
| chr5:127829741
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.411+31579G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127829741 | ||||||
| chr5:127829789
|
A | G | 99 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(96): Show | 99 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(96): Show |
intron_variant | MODIFIER | c.411+31627A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127829789 | ||||||
| chr5:127829922
|
G | A | 4 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0199others(1): Show | 4 | HG02922.hp1 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+31760G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127829922 | ||||||
| chr5:127830165
|
C | CA | 95 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 95 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.411+32013dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127830165 | |||||
| chr5:127830195
|
G | A | 5 | a0001c0001t0001g0088a0001c0001t0001g0095a0001c0001t0001g0170others(2): Show | 5 | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.411+32033G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830195 | ||||||
| chr5:127830198
|
T | C | 1 | a0001c0001t0001g0218 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.411+32036T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830198 | ||||||
| chr5:127830234
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.411+32072G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830234 | ||||||
| chr5:127830321
|
T | C | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+32159T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830321 | ||||||
| chr5:127830346
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+32184C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830346 | ||||||
| chr5:127830448
|
C | T | 3 | a0001c0001t0001g0031a0001c0001t0001g0045a0001c0001t0001g0212 | 3 | HG01070.hp1 HG02602.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.411+32286C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830448 | ||||||
| chr5:127830456
|
T | C | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.411+32294T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830456 | ||||||
| chr5:127830763
|
G | GA | 8 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0095others(5): Show | 8 | HG02055.hp1 HG02055.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.411+32614dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127830763 | |||||
| chr5:127830808
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.411+32646A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830808 | ||||||
| chr5:127830831
|
A | C | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+32669A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830831 | ||||||
| chr5:127830861
|
GTAAAAAT others(7): Show |
G | 1 | a0001c0001t0001g0042 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.411+32702_411+3271 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127830861 | |||||
| chr5:127830886
|
C | G | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.411+32724C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830886 | ||||||
| chr5:127830907
|
A | G | 81 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(78): Show | 81 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.411+32745A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830907 | ||||||
| chr5:127830926
|
C | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+32764C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830926 | ||||||
| chr5:127830941
|
C | T | 95 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 95 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.411+32779C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127830941 | ||||||
| chr5:127831283
|
ATTTAAAA others(34): Show |
A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+33131_411+3317 others(45): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127831283 | |||||
| chr5:127831363
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+33201C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127831363 | ||||||
| chr5:127831364
|
G | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+33202G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127831364 | ||||||
| chr5:127831446
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+33284C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127831446 | ||||||
| chr5:127831635
|
TAAAC | T | 81 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(78): Show | 81 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.411+33477_411+3348 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127831635 | |||||
| chr5:127831715
|
CAT | C | 6 | a0001c0001t0001g0020a0001c0001t0001g0121a0001c0001t0001g0129others(3): Show | 6 | HG00408.hp2 HG00735.hp1 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.411+33555_411+3355 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127831715 | |||||
| chr5:127832034
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+33872C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832034 | ||||||
| chr5:127832129
|
G | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.411+33967G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832129 | ||||||
| chr5:127832146
|
A | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+33984A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832146 | ||||||
| chr5:127832165
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.411+34003G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832165 | ||||||
| chr5:127832259
|
G | A | 1 | a0001c0001t0001g0155 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.411+34097G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832259 | ||||||
| chr5:127832492
|
A | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+34330A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832492 | ||||||
| chr5:127832570
|
A | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+34408A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832570 | ||||||
| chr5:127832609
|
G | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+34447G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832609 | ||||||
| chr5:127832931
|
T | C | 1 | a0001c0001t0001g0054 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.411+34769T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127832931 | ||||||
| chr5:127833014
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+34852G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833014 | ||||||
| chr5:127833043
|
G | C | 194 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(191): Show | 194 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.411+34881G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833043 | ||||||
| chr5:127833049
|
G | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+34887G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833049 | ||||||
| chr5:127833223
|
G | T | 94 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0026others(91): Show | 94 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.411+35061G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833223 | ||||||
| chr5:127833484
|
T | C | 1 | a0001c0001t0001g0014 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.411+35322T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833484 | ||||||
| chr5:127833506
|
T | C | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.411+35344T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833506 | ||||||
| chr5:127833520
|
A | G | 79 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.411+35358A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833520 | ||||||
| chr5:127833539
|
C | G | 1 | a0001c0001t0001g0194 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.411+35377C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833539 | ||||||
| chr5:127833799
|
T | G | 2 | a0001c0001t0001g0145a0001c0001t0001g0147 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.411+35637T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833799 | ||||||
| chr5:127833877
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+35715C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127833877 | ||||||
| chr5:127834041
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+35879C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834041 | ||||||
| chr5:127834144
|
A | G | 96 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 96 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(93): Show |
intron_variant | MODIFIER | c.411+35982A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834144 | ||||||
| chr5:127834290
|
C | A | 1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.411+36128C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834290 | ||||||
| chr5:127834460
|
T | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.411+36298T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834460 | ||||||
| chr5:127834665
|
G | C | 1 | a0001c0001t0001g0121 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.411+36503G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834665 | ||||||
| chr5:127834760
|
A | T | 32 | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0115others(29): Show | 32 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.411+36598A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834760 | ||||||
| chr5:127834861
|
G | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+36699G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834861 | ||||||
| chr5:127834951
|
A | G | 79 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.411+36789A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834951 | ||||||
| chr5:127834976
|
G | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+36814G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834976 | ||||||
| chr5:127834999
|
T | G | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.411+36837T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127834999 | ||||||
| chr5:127835072
|
T | G | 1 | a0001c0001t0001g0182 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.411+36910T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835072 | ||||||
| chr5:127835131
|
GTTCT | G | 50 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0034others(47): Show | 50 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.411+36974_411+3697 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127835131 | |||||
| chr5:127835201
|
C | T | 79 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.411+37039C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835201 | ||||||
| chr5:127835548
|
C | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.411+37386C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835548 | ||||||
| chr5:127835575
|
A | G | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.411+37413A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835575 | ||||||
| chr5:127835616
|
T | G | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.411+37454T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835616 | ||||||
| chr5:127835634
|
G | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.411+37472G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835634 | ||||||
| chr5:127835982
|
T | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.411+37820T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127835982 | ||||||
| chr5:127836249
|
G | A | 86 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(83): Show |
intron_variant | MODIFIER | c.411+38087G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127836249 | ||||||
| chr5:127836412
|
G | A | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.411+38250G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127836412 | ||||||
| chr5:127836480
|
C | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+38318C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127836480 | ||||||
| chr5:127836638
|
GCAGGCTC others(943): Show |
G | 138 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(135): Show |
intron_variant | MODIFIER | c.411+38479_412-3794 others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127836638 | |||||
| chr5:127836675
|
G | T | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.411+38513G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127836675 | ||||||
| chr5:127837727
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-37811C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127837727 | ||||||
| chr5:127837814
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-37724C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127837814 | ||||||
| chr5:127837961
|
A | ACTCCAGC others(1): Show |
46 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(43): Show | 46 | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.412-37576_412-3756 others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127837961 | |||||
| chr5:127838057
|
A | T | 1 | a0001c0001t0001g0072 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.412-37481A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127838057 | ||||||
| chr5:127838079
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0096 | 2 | HG02630.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.412-37459C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127838079 | ||||||
| chr5:127838155
|
A | G | 1 | a0001c0001t0001g0141 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.412-37383A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127838155 | ||||||
| chr5:127838246
|
G | A | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.412-37292G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127838246 | ||||||
| chr5:127838912
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.412-36626G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127838912 | ||||||
| chr5:127839009
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0001g0198 | 2 | HG02698.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.412-36529T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839009 | ||||||
| chr5:127839350
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-36188C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839350 | ||||||
| chr5:127839442
|
T | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(149): Show | 152 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.412-36096T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839442 | ||||||
| chr5:127839531
|
G | A | 4 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0116others(1): Show | 4 | HG01081.hp2 HG02257.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-36007G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839531 | ||||||
| chr5:127839618
|
T | A | 1 | a0001c0002t0001g0028 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.412-35920T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839618 | ||||||
| chr5:127839644
|
A | G | 2 | a0001c0001t0001g0017a0001c0001t0001g0019 | 2 | HG00639.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.412-35894A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839644 | ||||||
| chr5:127839739
|
G | A | 50 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0034others(47): Show | 50 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.412-35799G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839739 | ||||||
| chr5:127839857
|
C | G | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.412-35681C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127839857 | ||||||
| chr5:127840039
|
T | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.412-35499T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127840039 | ||||||
| chr5:127840105
|
T | G | 1 | a0001c0001t0001g0099 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.412-35433T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127840105 | ||||||
| chr5:127840586
|
A | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-34952A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127840586 | ||||||
| chr5:127840603
|
TATTA | T | 41 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 41 | HG00323.hp1 HG00408.hp2 HG00735.hp1 others(38): Show |
intron_variant | MODIFIER | c.412-34927_412-3492 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127840603 | |||||
| chr5:127840800
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.412-34738T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127840800 | ||||||
| chr5:127840823
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-34715A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127840823 | ||||||
| chr5:127841154
|
A | T | 2 | a0001c0001t0001g0138a0001c0001t0001g0148 | 2 | HG00408.hp2 NA18961.hp1 |
intron_variant | MODIFIER | c.412-34384A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127841154 | ||||||
| chr5:127841211
|
C | T | 3 | a0001c0001t0001g0094a0001c0001t0001g0108a0001c0001t0001g0232 | 3 | HG01243.hp2 HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.412-34327C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127841211 | ||||||
| chr5:127841372
|
C | T | 168 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(165): Show |
intron_variant | MODIFIER | c.412-34166C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127841372 | ||||||
| chr5:127841829
|
GT | G | 137 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 137 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(134): Show |
intron_variant | MODIFIER | c.412-33706delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127841829 | |||||
| chr5:127842144
|
C | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0055 | 2 | NA19010.hp2 NA19054.hp2 |
intron_variant | MODIFIER | c.412-33394C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842144 | ||||||
| chr5:127842207
|
T | C | 92 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0026others(89): Show | 92 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.412-33331T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842207 | ||||||
| chr5:127842216
|
G | T | 168 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(165): Show |
intron_variant | MODIFIER | c.412-33322G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842216 | ||||||
| chr5:127842401
|
A | T | 1 | a0001c0001t0001g0151 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.412-33137A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842401 | ||||||
| chr5:127842472
|
C | G | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-33066C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842472 | ||||||
| chr5:127842594
|
G | C | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.412-32944G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842594 | ||||||
| chr5:127842999
|
C | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-32539C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127842999 | ||||||
| chr5:127843029
|
G | GT | 130 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(127): Show | 130 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(127): Show |
intron_variant | MODIFIER | c.412-32486dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127843029 | |||||
| chr5:127843029
|
G | GTT | 18 | a0001c0001t0001g0009a0001c0001t0001g0040a0001c0001t0001g0078others(15): Show | 18 | HG00438.hp1 HG00639.hp2 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.412-32487_412-3248 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127843029 | |||||
| chr5:127843029
|
GTTTTTT | G | 7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0233others(4): Show | 7 | HG02717.hp2 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.412-32491_412-3248 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127843029 | |||||
| chr5:127843073
|
T | C | 141 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(138): Show | 141 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.412-32465T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843073 | ||||||
| chr5:127843127
|
T | G | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.412-32411T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843127 | ||||||
| chr5:127843144
|
T | C | 141 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(138): Show | 141 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.412-32394T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843144 | ||||||
| chr5:127843229
|
G | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-32309G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843229 | ||||||
| chr5:127843229
|
G | T | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.412-32309G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843229 | ||||||
| chr5:127843249
|
C | A | 233 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(230): Show | 233 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(230): Show |
intron_variant | MODIFIER | c.412-32289C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843249 | ||||||
| chr5:127843251
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-32287G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843251 | ||||||
| chr5:127843393
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-32145C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843393 | ||||||
| chr5:127843441
|
C | CT | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0175others(3): Show | 6 | HG02258.hp1 HG02615.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.412-32083dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127843441 | |||||
| chr5:127843441
|
CT | C | 11 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0047others(8): Show | 11 | HG00738.hp1 HG01069.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.412-32083delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127843441 | |||||
| chr5:127843653
|
G | T | 2 | a0001c0001t0001g0030a0001c0001t0001g0226 | 2 | HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.412-31885G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127843653 | ||||||
| chr5:127844434
|
C | T | 2 | a0001c0001t0001g0057a0001c0001t0001g0065 | 2 | NA18977.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.412-31104C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127844434 | ||||||
| chr5:127844730
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.412-30808C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127844730 | ||||||
| chr5:127844818
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.412-30720A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127844818 | ||||||
| chr5:127844863
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-30675A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127844863 | ||||||
| chr5:127845290
|
G | A | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.412-30248G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845290 | ||||||
| chr5:127845400
|
T | G | 1 | a0001c0001t0001g0121 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.412-30138T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845400 | ||||||
| chr5:127845405
|
A | T | 3 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0097 | 3 | HG02717.hp1 HG02970.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.412-30133A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845405 | ||||||
| chr5:127845453
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.412-30085C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845453 | ||||||
| chr5:127845526
|
G | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-30012G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845526 | ||||||
| chr5:127845540
|
C | G | 39 | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0098others(36): Show | 39 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(36): Show |
intron_variant | MODIFIER | c.412-29998C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845540 | ||||||
| chr5:127845554
|
A | C | 42 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0071others(39): Show | 42 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(39): Show |
intron_variant | MODIFIER | c.412-29984A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845554 | ||||||
| chr5:127845590
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.412-29948A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845590 | ||||||
| chr5:127845731
|
T | A | 7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0233others(4): Show | 7 | HG02717.hp2 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.412-29807T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845731 | ||||||
| chr5:127845732
|
A | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-29806A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845732 | ||||||
| chr5:127845942
|
A | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-29596A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127845942 | ||||||
| chr5:127846057
|
G | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-29481G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846057 | ||||||
| chr5:127846074
|
A | G | 1 | a0001c0006t0001g0124 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.412-29464A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846074 | ||||||
| chr5:127846186
|
G | T | 4 | a0001c0001t0001g0094a0001c0001t0001g0108a0001c0001t0001g0232others(1): Show | 4 | HG01243.hp1 HG01243.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-29352G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846186 | ||||||
| chr5:127846288
|
CA | C | 163 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(160): Show | 163 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.412-29232delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846288 | |||||
| chr5:127846370
|
A | G | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.412-29168A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846370 | ||||||
| chr5:127846400
|
G | A | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.412-29138G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846400 | ||||||
| chr5:127846616
|
C | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0024 | 2 | HG03195.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.412-28922C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846616 | ||||||
| chr5:127846630
|
C | T | 1 | a0001c0001t0001g0231 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.412-28908C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846630 | ||||||
| chr5:127846819
|
C | CA | 18 | a0001c0001t0001g0020a0001c0001t0001g0058a0001c0001t0001g0060others(15): Show | 18 | HG00735.hp1 HG00735.hp2 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.412-28693dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846819 | |||||
| chr5:127846819
|
CA | C | 50 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(47): Show | 50 | HG00323.hp1 HG00408.hp1 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.412-28693delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846819 | |||||
| chr5:127846819
|
CAA | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(37): Show | 40 | HG00323.hp2 HG00642.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.412-28694_412-2869 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846819 | |||||
| chr5:127846819
|
CAAA | C | 72 | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0048others(69): Show | 72 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.412-28695_412-2869 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846819 | |||||
| chr5:127846819
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.412-28706_412-2869 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127846819 | |||||
| chr5:127846933
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-28605C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127846933 | ||||||
| chr5:127847008
|
C | T | 1 | a0001c0001t0001g0194 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.412-28530C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847008 | ||||||
| chr5:127847048
|
G | T | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-28490G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847048 | ||||||
| chr5:127847094
|
A | G | 3 | a0001c0001t0001g0149a0001c0001t0001g0151a0001c0001t0001g0155 | 3 | NA18964.hp2 NA18977.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.412-28444A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847094 | ||||||
| chr5:127847110
|
C | G | 1 | a0001c0001t0001g0176 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.412-28428C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847110 | ||||||
| chr5:127847242
|
T | C | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-28296T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847242 | ||||||
| chr5:127847364
|
G | A | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-28174G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847364 | ||||||
| chr5:127847401
|
C | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-28137C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847401 | ||||||
| chr5:127847403
|
A | G | 1 | a0001c0001t0001g0031 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.412-28135A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847403 | ||||||
| chr5:127847484
|
T | C | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.412-28054T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847484 | ||||||
| chr5:127847516
|
T | C | 10 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(7): Show | 10 | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.412-28022T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847516 | ||||||
| chr5:127847559
|
T | C | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-27979T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847559 | ||||||
| chr5:127847642
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.412-27896G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847642 | ||||||
| chr5:127847683
|
G | A | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.412-27855G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847683 | ||||||
| chr5:127847747
|
T | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-27791T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847747 | ||||||
| chr5:127847821
|
T | TTAAA | 65 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0026others(62): Show | 65 | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.412-27686_412-2768 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127847821 | |||||
| chr5:127847821
|
T | TTAAATAA others(1): Show |
87 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(84): Show | 87 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(84): Show |
intron_variant | MODIFIER | c.412-27690_412-2768 others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127847821 | |||||
| chr5:127847821
|
T | TTAAATAA others(5): Show |
4 | a0001c0001t0001g0056a0001c0001t0001g0115a0001c0001t0001g0221others(1): Show | 4 | HG01884.hp2 HG02109.hp2 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-27694_412-2768 others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127847821 | |||||
| chr5:127847844
|
A | AATAAATA others(5): Show |
2 | a0001c0001t0001g0004a0001c0001t0001g0096 | 2 | HG02630.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.412-27683_412-2767 others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127847844 | |||||
| chr5:127847852
|
A | C | 1 | a0001c0001t0001g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.412-27686A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847852 | ||||||
| chr5:127847856
|
C | A | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.412-27682C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847856 | ||||||
| chr5:127847906
|
A | C | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-27632A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127847906 | ||||||
| chr5:127848318
|
A | T | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.412-27220A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127848318 | ||||||
| chr5:127848344
|
A | G | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.412-27194A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127848344 | ||||||
| chr5:127848427
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.412-27111A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127848427 | ||||||
| chr5:127848519
|
AG | A | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-27018delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127848519 | ||||||
| chr5:127848877
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-26661A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127848877 | ||||||
| chr5:127849211
|
G | A | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.412-26327G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127849211 | ||||||
| chr5:127849557
|
T | C | 1 | a0001c0001t0001g0072 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.412-25981T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127849557 | ||||||
| chr5:127849608
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-25930C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127849608 | ||||||
| chr5:127849875
|
A | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-25663A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127849875 | ||||||
| chr5:127849982
|
A | G | 1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.412-25556A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127849982 | ||||||
| chr5:127850346
|
A | T | 8 | a0001c0001t0001g0087a0001c0001t0001g0110a0001c0001t0001g0111others(5): Show | 8 | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.412-25192A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850346 | ||||||
| chr5:127850371
|
A | G | 4 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG00639.hp1 HG01081.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-25167A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850371 | ||||||
| chr5:127850531
|
A | C | 1 | a0001c0001t0001g0181 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.412-25007A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850531 | ||||||
| chr5:127850715
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-24823C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850715 | ||||||
| chr5:127850761
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.412-24777T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850761 | ||||||
| chr5:127850811
|
C | T | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02071.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.412-24727C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850811 | ||||||
| chr5:127850814
|
A | C | 1 | a0001c0001t0001g0225 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.412-24724A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850814 | ||||||
| chr5:127850942
|
G | T | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.412-24596G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127850942 | ||||||
| chr5:127850981
|
CAACA | C | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-24546_412-2454 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127850981 | |||||
| chr5:127851038
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.412-24500C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851038 | ||||||
| chr5:127851291
|
A | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-24247A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851291 | ||||||
| chr5:127851325
|
C | T | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-24213C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851325 | ||||||
| chr5:127851414
|
T | C | 10 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(7): Show | 10 | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.412-24124T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851414 | ||||||
| chr5:127851560
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-23978C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851560 | ||||||
| chr5:127851606
|
C | T | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-23932C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851606 | ||||||
| chr5:127851692
|
G | A | 1 | a0001c0001t0001g0113 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.412-23846G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851692 | ||||||
| chr5:127851702
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-23836C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851702 | ||||||
| chr5:127851707
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-23831C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851707 | ||||||
| chr5:127851993
|
A | T | 3 | a0001c0001t0001g0168a0001c0001t0001g0172a0001c0001t0001g0178 | 3 | HG01496.hp1 HG02683.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.412-23545A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851993 | ||||||
| chr5:127851997
|
C | G | 6 | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0049others(3): Show | 6 | HG00438.hp2 NA18944.hp2 NA18970.hp2 others(3): Show |
intron_variant | MODIFIER | c.412-23541C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127851997 | ||||||
| chr5:127852043
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-23495C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852043 | ||||||
| chr5:127852117
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.412-23421A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852117 | ||||||
| chr5:127852138
|
C | G | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-23400C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852138 | ||||||
| chr5:127852442
|
T | C | 1 | a0001c0001t0001g0103 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.412-23096T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852442 | ||||||
| chr5:127852528
|
C | T | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-23010C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852528 | ||||||
| chr5:127852626
|
G | C | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-22912G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852626 | ||||||
| chr5:127852740
|
A | T | 139 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(136): Show |
intron_variant | MODIFIER | c.412-22798A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852740 | ||||||
| chr5:127852844
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-22694C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852844 | ||||||
| chr5:127852861
|
G | A | 3 | a0001c0001t0001g0168a0001c0001t0001g0172a0001c0001t0001g0178 | 3 | HG01496.hp1 HG02683.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.412-22677G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852861 | ||||||
| chr5:127852917
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.412-22621G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127852917 | ||||||
| chr5:127853016
|
G | A | 3 | a0001c0001t0001g0094a0001c0001t0001g0108a0001c0001t0001g0232 | 3 | HG01243.hp2 HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.412-22522G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853016 | ||||||
| chr5:127853091
|
A | C | 1 | a0001c0001t0001g0204 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.412-22447A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853091 | ||||||
| chr5:127853093
|
A | G | 2 | a0001c0001t0001g0233a0001c0002t0001g0023 | 2 | HG02717.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.412-22445A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853093 | ||||||
| chr5:127853101
|
T | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(152): Show | 155 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(152): Show |
intron_variant | MODIFIER | c.412-22437T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853101 | ||||||
| chr5:127853105
|
C | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.412-22433C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853105 | ||||||
| chr5:127853322
|
A | G | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.412-22216A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853322 | ||||||
| chr5:127853544
|
G | A | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.412-21994G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853544 | ||||||
| chr5:127853637
|
G | C | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-21901G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853637 | ||||||
| chr5:127853802
|
C | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-21736C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853802 | ||||||
| chr5:127853881
|
A | G | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(142): Show | 145 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(142): Show |
intron_variant | MODIFIER | c.412-21657A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853881 | ||||||
| chr5:127853992
|
A | G | 2 | a0001c0001t0001g0094a0001c0001t0001g0108 | 2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.412-21546A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127853992 | ||||||
| chr5:127854021
|
T | A | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.412-21517T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854021 | ||||||
| chr5:127854224
|
A | G | 228 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.412-21314A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854224 | ||||||
| chr5:127854242
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.412-21296C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854242 | ||||||
| chr5:127854410
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-21128A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854410 | ||||||
| chr5:127854463
|
A | C | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-21075A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854463 | ||||||
| chr5:127854558
|
C | T | 2 | a0001c0001t0001g0189a0001c0001t0001g0195 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.412-20980C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854558 | ||||||
| chr5:127854712
|
G | T | 1 | a0001c0001t0001g0183 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.412-20826G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127854712 | ||||||
| chr5:127855173
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.412-20365A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855173 | ||||||
| chr5:127855238
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-20300C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855238 | ||||||
| chr5:127855360
|
G | T | 1 | a0001c0001t0001g0102 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.412-20178G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855360 | ||||||
| chr5:127855422
|
C | T | 93 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0026others(90): Show | 93 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.412-20116C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855422 | ||||||
| chr5:127855425
|
C | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-20113C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855425 | ||||||
| chr5:127855547
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-19991G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855547 | ||||||
| chr5:127855847
|
G | A | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.412-19691G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855847 | ||||||
| chr5:127855995
|
A | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.412-19543A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127855995 | ||||||
| chr5:127856130
|
T | G | 3 | a0001c0001t0001g0094a0001c0001t0001g0108a0001c0001t0001g0232 | 3 | HG01243.hp2 HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.412-19408T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856130 | ||||||
| chr5:127856289
|
T | G | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.412-19249T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856289 | ||||||
| chr5:127856325
|
C | T | 1 | a0001c0001t0001g0203 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.412-19213C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856325 | ||||||
| chr5:127856427
|
C | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-19111C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856427 | ||||||
| chr5:127856566
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.412-18972C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856566 | ||||||
| chr5:127856621
|
T | C | 1 | a0001c0001t0001g0059 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.412-18917T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856621 | ||||||
| chr5:127856969
|
G | A | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.412-18569G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127856969 | ||||||
| chr5:127857043
|
T | G | 228 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.412-18495T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857043 | ||||||
| chr5:127857069
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-18469G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857069 | ||||||
| chr5:127857110
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.412-18428C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857110 | ||||||
| chr5:127857284
|
T | C | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-18254T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857284 | ||||||
| chr5:127857509
|
G | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-18029G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857509 | ||||||
| chr5:127857636
|
T | C | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-17902T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857636 | ||||||
| chr5:127857656
|
T | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 154 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
intron_variant | MODIFIER | c.412-17882T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857656 | ||||||
| chr5:127857792
|
T | A | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.412-17746T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857792 | ||||||
| chr5:127857797
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-17741A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857797 | ||||||
| chr5:127857989
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0136 | 2 | NA18941.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.412-17549C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857989 | ||||||
| chr5:127857990
|
G | A | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.412-17548G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127857990 | ||||||
| chr5:127858153
|
A | G | 1 | a0001c0001t0001g0197 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.412-17385A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858153 | ||||||
| chr5:127858338
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-17200C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858338 | ||||||
| chr5:127858382
|
T | C | 1 | a0001c0001t0001g0185 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.412-17156T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858382 | ||||||
| chr5:127858594
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.412-16944A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858594 | ||||||
| chr5:127858633
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-16905G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858633 | ||||||
| chr5:127858919
|
G | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-16619G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858919 | ||||||
| chr5:127858931
|
T | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-16607T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127858931 | ||||||
| chr5:127858937
|
TA | T | 93 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0026others(90): Show | 93 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.412-16592delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127858937 | |||||
| chr5:127859545
|
GT | G | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.412-15984delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127859545 | |||||
| chr5:127859756
|
C | G | 3 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0085 | 3 | HG02258.hp1 HG03195.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.412-15782C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127859756 | ||||||
| chr5:127859966
|
A | G | 15 | a0001c0001t0001g0191a0001c0001t0001g0200a0001c0001t0001g0201others(12): Show | 15 | HG00438.hp1 HG02040.hp2 NA18961.hp2 others(12): Show |
intron_variant | MODIFIER | c.412-15572A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127859966 | ||||||
| chr5:127860107
|
C | T | 1 | a0001c0001t0001g0043 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.412-15431C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127860107 | ||||||
| chr5:127860374
|
G | A | 93 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0026others(90): Show | 93 | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.412-15164G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127860374 | ||||||
| chr5:127860454
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-15084G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127860454 | ||||||
| chr5:127860496
|
T | G | 1 | a0001c0001t0001g0181 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.412-15042T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127860496 | ||||||
| chr5:127860553
|
G | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-14985G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127860553 | ||||||
| chr5:127861001
|
G | A | 41 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 41 | HG00323.hp1 HG00408.hp2 HG00735.hp1 others(38): Show |
intron_variant | MODIFIER | c.412-14537G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861001 | ||||||
| chr5:127861165
|
T | C | 30 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 30 | HG00323.hp1 HG00408.hp2 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.412-14373T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861165 | ||||||
| chr5:127861239
|
C | G | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.412-14299C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861239 | ||||||
| chr5:127861429
|
C | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-14109C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861429 | ||||||
| chr5:127861595
|
C | T | 2 | a0001c0001t0001g0094a0001c0001t0001g0108 | 2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.412-13943C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861595 | ||||||
| chr5:127861641
|
G | A | 1 | a0001c0001t0001g0203 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.412-13897G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861641 | ||||||
| chr5:127861717
|
C | T | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.412-13821C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861717 | ||||||
| chr5:127861718
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.412-13820G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861718 | ||||||
| chr5:127861742
|
G | GT | 140 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.412-13794dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127861742 | |||||
| chr5:127861934
|
C | T | 2 | a0001c0001t0001g0094a0001c0001t0001g0108 | 2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.412-13604C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861934 | ||||||
| chr5:127861999
|
A | G | 2 | a0001c0001t0001g0113a0002c0005t0001g0107 | 2 | HG02809.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.412-13539A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127861999 | ||||||
| chr5:127862168
|
C | T | 2 | a0001c0001t0001g0075a0001c0001t0001g0198 | 2 | HG02698.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.412-13370C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127862168 | ||||||
| chr5:127862495
|
A | G | 7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0233others(4): Show | 7 | HG02717.hp2 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.412-13043A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127862495 | ||||||
| chr5:127862881
|
A | G | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-12657A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127862881 | ||||||
| chr5:127862928
|
TA | T | 10 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(7): Show | 10 | HG01081.hp2 HG01167.hp1 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.412-12590delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127862928 | |||||
| chr5:127862928
|
TAA | T | 140 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.412-12591_412-1259 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127862928 | |||||
| chr5:127862928
|
TAAA | T | 8 | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0102others(5): Show | 8 | HG01167.hp2 HG01243.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.412-12592_412-1259 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127862928 | |||||
| chr5:127863413
|
A | C | 1 | a0001c0001t0001g0137 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.412-12125A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863413 | ||||||
| chr5:127863473
|
A | G | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.412-12065A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863473 | ||||||
| chr5:127863546
|
T | C | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-11992T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863546 | ||||||
| chr5:127863591
|
AG | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-11946delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863591 | ||||||
| chr5:127863652
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.412-11886C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863652 | ||||||
| chr5:127863782
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-11756A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127863782 | ||||||
| chr5:127864372
|
C | T | 2 | a0001c0001t0001g0168a0001c0001t0001g0172 | 2 | HG01496.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.412-11166C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127864372 | ||||||
| chr5:127864831
|
T | C | 138 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(135): Show |
intron_variant | MODIFIER | c.412-10707T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127864831 | ||||||
| chr5:127864886
|
G | A | 4 | a0001c0001t0001g0095a0001c0001t0001g0170a0001c0001t0001g0181others(1): Show | 4 | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-10652G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127864886 | ||||||
| chr5:127864927
|
C | G | 1 | a0001c0001t0001g0126 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.412-10611C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127864927 | ||||||
| chr5:127864950
|
A | G | 16 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(13): Show | 16 | HG00642.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.412-10588A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127864950 | ||||||
| chr5:127865103
|
C | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0002t0001g0084others(1): Show | 4 | HG02258.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-10435C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865103 | ||||||
| chr5:127865125
|
C | T | 140 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.412-10413C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865125 | ||||||
| chr5:127865142
|
G | A | 8 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0002t0001g0013others(5): Show | 8 | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.412-10396G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865142 | ||||||
| chr5:127865393
|
T | C | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-10145T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865393 | ||||||
| chr5:127865395
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-10143A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865395 | ||||||
| chr5:127865544
|
C | G | 1 | a0001c0002t0001g0036 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.412-9994C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865544 | ||||||
| chr5:127865742
|
C | T | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.412-9796C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127865742 | ||||||
| chr5:127866026
|
G | A | 1 | a0001c0001t0001g0204 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.412-9512G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127866026 | ||||||
| chr5:127866149
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-9389G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127866149 | ||||||
| chr5:127866645
|
T | C | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-8893T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127866645 | ||||||
| chr5:127866698
|
C | T | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.412-8840C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127866698 | ||||||
| chr5:127866967
|
C | T | 1 | a0001c0001t0001g0024 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.412-8571C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127866967 | ||||||
| chr5:127867107
|
A | C | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.412-8431A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867107 | ||||||
| chr5:127867250
|
A | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-8288A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867250 | ||||||
| chr5:127867500
|
C | T | 169 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 169 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(166): Show |
intron_variant | MODIFIER | c.412-8038C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867500 | ||||||
| chr5:127867551
|
G | A | 169 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 169 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(166): Show |
intron_variant | MODIFIER | c.412-7987G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867551 | ||||||
| chr5:127867812
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-7726G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867812 | ||||||
| chr5:127867913
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-7625C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867913 | ||||||
| chr5:127867930
|
A | G | 1 | a0001c0001t0001g0135 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.412-7608A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127867930 | ||||||
| chr5:127868009
|
C | CT | 34 | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0035others(31): Show | 34 | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(31): Show |
intron_variant | MODIFIER | c.412-7513dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127868009 | |||||
| chr5:127868016
|
T | C | 7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0233others(4): Show | 7 | HG02717.hp2 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.412-7522T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868016 | ||||||
| chr5:127868056
|
G | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-7482G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868056 | ||||||
| chr5:127868090
|
A | G | 1 | a0001c0001t0001g0114 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.412-7448A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868090 | ||||||
| chr5:127868094
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-7444A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868094 | ||||||
| chr5:127868109
|
G | T | 2 | a0001c0001t0001g0226a0003c0004t0001g0089 | 2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.412-7429G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868109 | ||||||
| chr5:127868333
|
T | C | 7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0233others(4): Show | 7 | HG02717.hp2 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.412-7205T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868333 | ||||||
| chr5:127868374
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-7164A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868374 | ||||||
| chr5:127868413
|
C | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-7125C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868413 | ||||||
| chr5:127868468
|
T | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-7070T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868468 | ||||||
| chr5:127868622
|
G | A | 143 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(140): Show | 143 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(140): Show |
intron_variant | MODIFIER | c.412-6916G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868622 | ||||||
| chr5:127868702
|
G | T | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.412-6836G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868702 | ||||||
| chr5:127868881
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.412-6657T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868881 | ||||||
| chr5:127868999
|
A | C | 1 | a0001c0001t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.412-6539A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127868999 | ||||||
| chr5:127869092
|
G | A | 1 | a0001c0001t0001g0020 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.412-6446G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869092 | ||||||
| chr5:127869268
|
G | A | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.412-6270G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869268 | ||||||
| chr5:127869321
|
T | C | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-6217T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869321 | ||||||
| chr5:127869616
|
A | G | 1 | a0001c0001t0001g0148 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.412-5922A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869616 | ||||||
| chr5:127869639
|
C | G | 1 | a0001c0001t0001g0160 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.412-5899C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869639 | ||||||
| chr5:127869671
|
CTATT | C | 4 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0116others(1): Show | 4 | HG01081.hp2 HG02257.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-5859_412-5856d others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127869671 | |||||
| chr5:127869728
|
C | T | 169 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 169 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(166): Show |
intron_variant | MODIFIER | c.412-5810C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869728 | ||||||
| chr5:127869750
|
G | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-5788G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127869750 | ||||||
| chr5:127870092
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.412-5446C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870092 | ||||||
| chr5:127870123
|
C | T | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.412-5415C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870123 | ||||||
| chr5:127870275
|
G | T | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.412-5263G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870275 | ||||||
| chr5:127870370
|
G | C | 1 | a0001c0002t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.412-5168G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870370 | ||||||
| chr5:127870384
|
C | G | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-5154C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870384 | ||||||
| chr5:127870467
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-5071G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870467 | ||||||
| chr5:127870675
|
C | A | 1 | a0003c0004t0001g0093 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.412-4863C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127870675 | ||||||
| chr5:127871325
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.412-4213A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127871325 | ||||||
| chr5:127871537
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.412-4001C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127871537 | ||||||
| chr5:127871698
|
T | A | 1 | a0001c0001t0001g0214 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.412-3840T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127871698 | ||||||
| chr5:127871843
|
G | A | 140 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.412-3695G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127871843 | ||||||
| chr5:127871847
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-3691G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127871847 | ||||||
| chr5:127872103
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.412-3435A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872103 | ||||||
| chr5:127872119
|
C | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-3419C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872119 | ||||||
| chr5:127872217
|
C | G | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.412-3321C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872217 | ||||||
| chr5:127872328
|
A | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0064others(2): Show | 5 | HG00438.hp2 NA18970.hp2 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.412-3210A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872328 | ||||||
| chr5:127872347
|
C | T | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.412-3191C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872347 | ||||||
| chr5:127872826
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-2712A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872826 | ||||||
| chr5:127872936
|
A | G | 6 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0158others(3): Show | 6 | HG00323.hp2 HG01070.hp2 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.412-2602A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872936 | ||||||
| chr5:127872976
|
T | A | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.412-2562T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127872976 | ||||||
| chr5:127873240
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.412-2298A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873240 | ||||||
| chr5:127873357
|
T | C | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.412-2181T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873357 | ||||||
| chr5:127873359
|
T | A | 3 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | NA18970.hp1 NA19010.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.412-2179T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873359 | ||||||
| chr5:127873414
|
A | G | 4 | a0001c0001t0001g0094a0001c0002t0001g0044a0001c0002t0001g0069others(1): Show | 4 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-2124A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873414 | ||||||
| chr5:127873469
|
C | T | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-2069C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873469 | ||||||
| chr5:127873786
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.412-1752G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127873786 | ||||||
| chr5:127874183
|
G | A | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02071.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.412-1355G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127874183 | ||||||
| chr5:127874420
|
T | C | 1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-1118T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127874420 | ||||||
| chr5:127874442
|
A | G | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.412-1096A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127874442 | ||||||
| chr5:127874978
|
T | TGTAATCC others(278): Show |
1 | a0003c0004t0001g0089 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.412-560_412-559ins others(285): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127874978 | ||||||
| chr5:127875039
|
T | C | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.412-499T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875039 | ||||||
| chr5:127875095
|
T | C | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.412-443T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875095 | ||||||
| chr5:127875113
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-425G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875113 | ||||||
| chr5:127875154
|
A | G | 1 | a0001c0001t0001g0055 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.412-384A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875154 | ||||||
| chr5:127875155
|
T | C | 4 | a0001c0001t0001g0094a0001c0002t0001g0044a0001c0002t0001g0069others(1): Show | 4 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.412-383T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875155 | ||||||
| chr5:127875284
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.412-254G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875284 | ||||||
| chr5:127875508
|
A | T | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.412-30A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | chr5 | 127875508 | ||||||
| chr5:127875520
|
AT | A | 14 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0049others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(11): Show |
splice_region_variant&intron_variant | LOW | c.412-4delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127875520 | |||||
| chr5:127875520
|
ATT | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(152): Show | 155 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(152): Show |
splice_region_variant&intron_variant | LOW | c.412-5_412-4delTT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | 127875520 | |||||
| chr5:127875699
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.535+38C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127875699 | ||||||
| chr5:127876063
|
A | ATTTT | 8 | a0001c0001t0001g0004a0001c0001t0001g0096a0001c0001t0001g0108others(5): Show | 8 | HG00642.hp1 HG01243.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.535+421_535+424dup others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127876063 | |||||
| chr5:127876063
|
AT | A | 15 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0101others(12): Show | 15 | HG01071.hp2 HG01496.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.535+424delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127876063 | |||||
| chr5:127876063
|
ATT | A | 132 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(129): Show | 132 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.535+423_535+424del others(2): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127876063 | |||||
| chr5:127876196
|
A | G | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.535+535A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876196 | ||||||
| chr5:127876255
|
CA | C | 133 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 133 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.535+601delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127876255 | |||||
| chr5:127876257
|
A | C | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.535+596A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876257 | ||||||
| chr5:127876314
|
C | T | 133 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 133 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.535+653C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876314 | ||||||
| chr5:127876318
|
G | A | 161 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 161 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(158): Show |
intron_variant | MODIFIER | c.535+657G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876318 | ||||||
| chr5:127876528
|
A | G | 1 | a0001c0001t0001g0168 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.535+867A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876528 | ||||||
| chr5:127876536
|
C | A | 133 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 133 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.535+875C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876536 | ||||||
| chr5:127876635
|
C | A | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+974C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876635 | ||||||
| chr5:127876691
|
C | T | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.535+1030C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876691 | ||||||
| chr5:127876818
|
A | G | 1 | a0001c0001t0001g0145 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.535+1157A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876818 | ||||||
| chr5:127876909
|
G | A | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+1248G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876909 | ||||||
| chr5:127876971
|
T | G | 3 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0073 | 3 | HG01167.hp1 HG02004.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.535+1310T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127876971 | ||||||
| chr5:127877158
|
A | AT | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+1498dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127877158 | |||||
| chr5:127877195
|
T | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+1534T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877195 | ||||||
| chr5:127877234
|
G | A | 6 | a0001c0001t0001g0094a0001c0001t0001g0101a0001c0001t0001g0102others(3): Show | 6 | HG01891.hp2 HG02258.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.535+1573G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877234 | ||||||
| chr5:127877354
|
GA | G | 135 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 135 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.535+1694delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877354 | ||||||
| chr5:127877355
|
A | G | 26 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(23): Show | 26 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.535+1694A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877355 | ||||||
| chr5:127877356
|
T | G | 135 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 135 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.535+1695T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877356 | ||||||
| chr5:127877390
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(10): Show | 13 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.535+1729G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877390 | ||||||
| chr5:127877584
|
G | T | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+1923G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877584 | ||||||
| chr5:127877675
|
C | CT | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+2015dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127877675 | |||||
| chr5:127877731
|
A | G | 3 | a0001c0001t0001g0226a0003c0004t0001g0089a0003c0004t0001g0093 | 3 | HG01243.hp1 HG02615.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.535+2070A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877731 | ||||||
| chr5:127877743
|
C | A | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+2082C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877743 | ||||||
| chr5:127877756
|
T | G | 1 | a0001c0001t0001g0007 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.535+2095T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877756 | ||||||
| chr5:127877792
|
A | C | 14 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(11): Show | 14 | HG00639.hp2 HG00642.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.535+2131A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877792 | ||||||
| chr5:127877933
|
C | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+2272C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127877933 | ||||||
| chr5:127878074
|
C | T | 1 | a0001c0001t0001g0210 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.535+2413C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878074 | ||||||
| chr5:127878080
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.535+2419C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878080 | ||||||
| chr5:127878086
|
C | T | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.535+2425C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878086 | ||||||
| chr5:127878174
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.535+2513C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878174 | ||||||
| chr5:127878471
|
T | C | 161 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 161 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(158): Show |
intron_variant | MODIFIER | c.535+2810T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878471 | ||||||
| chr5:127878517
|
A | G | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(149): Show | 152 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.535+2856A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878517 | ||||||
| chr5:127878652
|
T | A | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+2991T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878652 | ||||||
| chr5:127878882
|
T | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+3221T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127878882 | ||||||
| chr5:127879004
|
G | A | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+3343G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879004 | ||||||
| chr5:127879023
|
A | T | 1 | a0002c0005t0001g0107 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.535+3362A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879023 | ||||||
| chr5:127879048
|
A | G | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.535+3387A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879048 | ||||||
| chr5:127879241
|
A | C | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+3580A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879241 | ||||||
| chr5:127879385
|
T | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+3724T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879385 | ||||||
| chr5:127879387
|
T | G | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.535+3726T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879387 | ||||||
| chr5:127879460
|
A | G | 1 | a0001c0001t0001g0020 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.535+3799A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879460 | ||||||
| chr5:127879462
|
T | G | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.535+3801T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879462 | ||||||
| chr5:127879524
|
C | T | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+3863C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879524 | ||||||
| chr5:127879773
|
C | T | 1 | a0001c0001t0001g0213 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.535+4112C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879773 | ||||||
| chr5:127879819
|
C | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(10): Show | 13 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.535+4158C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879819 | ||||||
| chr5:127879868
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+4207C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127879868 | ||||||
| chr5:127880165
|
C | T | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+4504C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880165 | ||||||
| chr5:127880244
|
C | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+4583C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880244 | ||||||
| chr5:127880279
|
G | A | 1 | a0001c0001t0001g0007 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.535+4618G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880279 | ||||||
| chr5:127880421
|
G | A | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+4760G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880421 | ||||||
| chr5:127880438
|
T | A | 1 | a0001c0001t0001g0068 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.535+4777T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880438 | ||||||
| chr5:127880438
|
T | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(152): Show | 155 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(152): Show |
intron_variant | MODIFIER | c.535+4777T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880438 | ||||||
| chr5:127880502
|
A | G | 1 | a0001c0001t0001g0216 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.535+4841A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880502 | ||||||
| chr5:127880525
|
C | T | 14 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(11): Show | 14 | HG00639.hp2 HG00642.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.535+4864C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880525 | ||||||
| chr5:127880694
|
T | C | 1 | a0001c0001t0001g0206 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.535+5033T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880694 | ||||||
| chr5:127880722
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+5061G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880722 | ||||||
| chr5:127880831
|
C | T | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.535+5170C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127880831 | ||||||
| chr5:127881008
|
C | T | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.535+5347C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881008 | ||||||
| chr5:127881269
|
A | G | 3 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186 | 3 | NA18970.hp1 NA19010.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.535+5608A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881269 | ||||||
| chr5:127881419
|
T | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.535+5758T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881419 | ||||||
| chr5:127881645
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+5984C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881645 | ||||||
| chr5:127881680
|
G | A | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.535+6019G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881680 | ||||||
| chr5:127881763
|
T | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+6102T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881763 | ||||||
| chr5:127881793
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+6132C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881793 | ||||||
| chr5:127881887
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+6226C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881887 | ||||||
| chr5:127881998
|
G | A | 4 | a0001c0001t0001g0026a0001c0001t0001g0110a0001c0001t0001g0119others(1): Show | 4 | HG01069.hp2 HG01071.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.535+6337G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127881998 | ||||||
| chr5:127882299
|
C | T | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | HG02004.hp1 HG02148.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.535+6638C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127882299 | ||||||
| chr5:127882444
|
C | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+6783C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127882444 | ||||||
| chr5:127882539
|
C | T | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.535+6878C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127882539 | ||||||
| chr5:127882913
|
A | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+7252A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127882913 | ||||||
| chr5:127883069
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+7408C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883069 | ||||||
| chr5:127883303
|
A | G | 17 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+7642A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883303 | ||||||
| chr5:127883490
|
C | G | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.535+7829C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883490 | ||||||
| chr5:127883603
|
A | G | 2 | a0001c0001t0001g0021a0001c0001t0001g0058 | 2 | HG02273.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.535+7942A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883603 | ||||||
| chr5:127883613
|
G | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.535+7952G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883613 | ||||||
| chr5:127883645
|
C | A | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.535+7984C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883645 | ||||||
| chr5:127883685
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.535+8024G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883685 | ||||||
| chr5:127883698
|
G | A | 2 | a0001c0001t0001g0145a0001c0001t0001g0147 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.535+8037G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883698 | ||||||
| chr5:127883774
|
G | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.535+8113G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883774 | ||||||
| chr5:127883932
|
C | T | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.535+8271C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127883932 | ||||||
| chr5:127884030
|
C | T | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.535+8369C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884030 | ||||||
| chr5:127884215
|
C | T | 1 | a0001c0001t0001g0165 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.535+8554C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884215 | ||||||
| chr5:127884321
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+8660C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884321 | ||||||
| chr5:127884322
|
G | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+8661G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884322 | ||||||
| chr5:127884342
|
C | CA | 32 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0045others(29): Show | 32 | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.535+8708dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAA | 8 | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0055others(5): Show | 8 | HG01175.hp1 HG01243.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.535+8707_535+8708d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAA | 12 | a0001c0001t0001g0007a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 12 | HG00408.hp1 HG00597.hp1 HG00639.hp1 others(9): Show |
intron_variant | MODIFIER | c.535+8704_535+8708d others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAA | 8 | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0049others(5): Show | 8 | HG00438.hp2 HG02698.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.535+8703_535+8708d others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(5): Show |
2 | a0001c0001t0001g0010a0001c0001t0001g0224 | 2 | HG03927.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.535+8697_535+8708d others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(6): Show |
2 | a0001c0001t0001g0202a0001c0002t0001g0084 | 2 | HG02970.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.535+8696_535+8708d others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(7): Show |
4 | a0001c0001t0001g0213a0001c0002t0001g0070a0001c0002t0001g0085others(1): Show | 4 | HG02071.hp1 HG02258.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.535+8695_535+8708d others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(8): Show |
2 | a0001c0002t0001g0044a0001c0002t0001g0069 | 2 | HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+8694_535+8708d others(17): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(12): Show |
1 | a0001c0001t0001g0080 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.535+8690_535+8708d others(21): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(16): Show |
3 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0077 | 3 | HG00738.hp2 HG01257.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.535+8686_535+8708d others(25): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(17): Show |
1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.535+8685_535+8708d others(26): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(18): Show |
5 | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0060others(2): Show | 5 | HG01099.hp1 HG01175.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.535+8684_535+8708d others(27): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(19): Show |
1 | a0001c0001t0001g0229 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.535+8683_535+8708d others(28): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(20): Show |
3 | a0001c0001t0001g0057a0001c0001t0001g0078a0001c0001t0001g0079 | 3 | NA18963.hp1 NA18975.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.535+8682_535+8708d others(29): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(21): Show |
7 | a0001c0001t0001g0015a0001c0001t0001g0041a0001c0001t0001g0043others(4): Show | 7 | HG01167.hp1 HG02004.hp2 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.535+8708_535+8709i others(30): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(22): Show |
2 | a0001c0001t0001g0005a0001c0001t0001g0016 | 2 | HG02056.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.535+8708_535+8709i others(31): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(23): Show |
2 | a0001c0001t0001g0067a0001c0001t0001g0190 | 2 | HG02148.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.535+8708_535+8709i others(32): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(24): Show |
2 | a0001c0001t0001g0053a0001c0001t0001g0193 | 2 | NA19090.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.535+8708_535+8709i others(33): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(26): Show |
1 | a0001c0001t0001g0061 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.535+8708_535+8709i others(35): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
C | CAAAAAAA others(28): Show |
1 | a0001c0001t0001g0063 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.535+8708_535+8709i others(37): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884342
|
CA | C | 10 | a0001c0001t0001g0026a0001c0001t0001g0056a0001c0001t0001g0118others(7): Show | 10 | HG01069.hp1 HG01069.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.535+8708delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884342 | |||||
| chr5:127884370
|
G | A | 17 | a0001c0001t0001g0007a0001c0001t0001g0017a0001c0001t0001g0018others(14): Show | 17 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+8709G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884370 | ||||||
| chr5:127884392
|
C | CA | 7 | a0001c0001t0001g0016a0001c0001t0001g0050a0001c0001t0001g0137others(4): Show | 7 | HG01256.hp1 HG02300.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.535+8744dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884392 | |||||
| chr5:127884392
|
CA | C | 28 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0031others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.535+8744delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127884392 | |||||
| chr5:127884417
|
A | C | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.535+8756A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884417 | ||||||
| chr5:127884465
|
C | G | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+8804C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884465 | ||||||
| chr5:127884579
|
C | T | 163 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(160): Show | 163 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.535+8918C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884579 | ||||||
| chr5:127884610
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+8949G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884610 | ||||||
| chr5:127884731
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+9070C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884731 | ||||||
| chr5:127884807
|
T | G | 17 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+9146T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884807 | ||||||
| chr5:127884881
|
G | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(10): Show | 13 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.535+9220G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127884881 | ||||||
| chr5:127885096
|
T | C | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+9435T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885096 | ||||||
| chr5:127885118
|
T | TA | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(149): Show | 152 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.535+9468dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127885118 | |||||
| chr5:127885138
|
C | G | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.535+9477C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885138 | ||||||
| chr5:127885173
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+9512C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885173 | ||||||
| chr5:127885275
|
G | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+9614G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885275 | ||||||
| chr5:127885347
|
G | T | 2 | a0001c0001t0001g0082a0001c0001t0001g0116 | 2 | NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.535+9686G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885347 | ||||||
| chr5:127885431
|
G | A | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.535+9770G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885431 | ||||||
| chr5:127885571
|
C | CA | 2 | a0001c0001t0001g0121a0001c0001t0001g0229 | 2 | HG01099.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.535+9911dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127885571 | |||||
| chr5:127885608
|
C | T | 1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.535+9947C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885608 | ||||||
| chr5:127885879
|
C | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+10218C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127885879 | ||||||
| chr5:127886099
|
A | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+10438A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886099 | ||||||
| chr5:127886113
|
A | G | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.535+10452A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886113 | ||||||
| chr5:127886142
|
C | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(10): Show | 13 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.535+10481C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886142 | ||||||
| chr5:127886226
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+10565C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886226 | ||||||
| chr5:127886348
|
G | A | 2 | a0001c0001t0001g0057a0001c0001t0001g0065 | 2 | NA18977.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.535+10687G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886348 | ||||||
| chr5:127886416
|
C | A | 135 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 135 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.535+10755C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886416 | ||||||
| chr5:127886470
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+10809A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886470 | ||||||
| chr5:127886697
|
A | C | 8 | a0001c0001t0001g0020a0001c0001t0001g0122a0001c0001t0001g0130others(5): Show | 8 | HG00735.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.535+11036A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886697 | ||||||
| chr5:127886738
|
G | C | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.535+11077G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886738 | ||||||
| chr5:127886959
|
C | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+11298C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127886959 | ||||||
| chr5:127887204
|
A | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.535+11543A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887204 | ||||||
| chr5:127887241
|
A | G | 3 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0097 | 3 | HG02717.hp1 HG02970.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.535+11580A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887241 | ||||||
| chr5:127887328
|
C | CA | 18 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0019others(15): Show | 18 | HG00639.hp1 HG01175.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.535+11688dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887328 | |||||
| chr5:127887328
|
C | CAA | 17 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0095others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+11687_535+1168 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887328 | |||||
| chr5:127887328
|
C | CAAA | 43 | a0001c0001t0001g0039a0001c0001t0001g0047a0001c0001t0001g0051others(40): Show | 43 | HG00323.hp2 HG00642.hp2 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.535+11686_535+1168 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887328 | |||||
| chr5:127887328
|
C | CAAAA | 57 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(54): Show | 57 | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(54): Show |
intron_variant | MODIFIER | c.535+11685_535+1168 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887328 | |||||
| chr5:127887328
|
C | CAAAAA | 28 | a0001c0001t0001g0020a0001c0001t0001g0030a0001c0001t0001g0042others(25): Show | 28 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.535+11684_535+1168 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887328 | |||||
| chr5:127887428
|
G | A | 52 | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0047others(49): Show | 52 | HG00323.hp2 HG00642.hp2 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.535+11767G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887428 | ||||||
| chr5:127887706
|
AT | A | 5 | a0001c0001t0001g0025a0001c0001t0001g0165a0001c0001t0001g0208others(2): Show | 5 | HG02886.hp2 HG02896.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.535+12060delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887706 | |||||
| chr5:127887709
|
T | G | 1 | a0001c0002t0001g0029 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.535+12048T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887709 | ||||||
| chr5:127887738
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+12077C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887738 | ||||||
| chr5:127887766
|
C | T | 1 | a0001c0001t0001g0182 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.535+12105C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887766 | ||||||
| chr5:127887772
|
C | T | 4 | a0001c0001t0001g0094a0001c0001t0001g0168a0001c0001t0001g0172others(1): Show | 4 | HG01496.hp1 HG02683.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.535+12111C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887772 | ||||||
| chr5:127887847
|
GCGCT | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+12188_535+1219 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127887847 | |||||
| chr5:127887852
|
C | T | 3 | a0001c0001t0001g0168a0001c0001t0001g0172a0001c0001t0001g0178 | 3 | HG01496.hp1 HG02683.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.535+12191C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887852 | ||||||
| chr5:127887993
|
G | A | 2 | a0001c0001t0001g0071a0001c0006t0001g0124 | 2 | HG00597.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.535+12332G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127887993 | ||||||
| chr5:127888012
|
A | G | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.535+12351A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888012 | ||||||
| chr5:127888056
|
A | C | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+12395A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888056 | ||||||
| chr5:127888092
|
T | C | 1 | a0001c0001t0001g0165 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.535+12431T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888092 | ||||||
| chr5:127888137
|
C | T | 36 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(33): Show | 36 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.535+12476C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888137 | ||||||
| chr5:127888155
|
C | A | 2 | a0001c0001t0001g0082a0001c0001t0001g0116 | 2 | NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.535+12494C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888155 | ||||||
| chr5:127888309
|
A | G | 136 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 136 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.535+12648A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888309 | ||||||
| chr5:127888373
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.535+12712G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888373 | ||||||
| chr5:127888392
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+12731G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888392 | ||||||
| chr5:127888427
|
A | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+12766A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888427 | ||||||
| chr5:127888461
|
C | G | 136 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 136 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.535+12800C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888461 | ||||||
| chr5:127888532
|
A | T | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.535+12871A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888532 | ||||||
| chr5:127888607
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+12946T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888607 | ||||||
| chr5:127888630
|
T | C | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.535+12969T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888630 | ||||||
| chr5:127888741
|
C | T | 134 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.535+13080C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888741 | ||||||
| chr5:127888783
|
G | A | 136 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 136 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.535+13122G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888783 | ||||||
| chr5:127888902
|
G | GT | 2 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | HG00323.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.535+13242dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127888902 | |||||
| chr5:127888951
|
C | G | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.535+13290C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127888951 | ||||||
| chr5:127888988
|
T | TA | 17 | a0001c0001t0001g0004a0001c0001t0001g0082a0001c0001t0001g0088others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.535+13329dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127888988 | |||||
| chr5:127889031
|
A | T | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.535+13370A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889031 | ||||||
| chr5:127889079
|
A | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+13418A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889079 | ||||||
| chr5:127889169
|
A | G | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | HG01891.hp2 HG02258.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.535+13508A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889169 | ||||||
| chr5:127889278
|
A | G | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+13617A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889278 | ||||||
| chr5:127889388
|
T | C | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.535+13727T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889388 | ||||||
| chr5:127889407
|
CT | C | 136 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 136 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.535+13759delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127889407 | |||||
| chr5:127889551
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.535+13890G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889551 | ||||||
| chr5:127889575
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.535+13914A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889575 | ||||||
| chr5:127889581
|
C | T | 159 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(156): Show | 159 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.535+13920C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889581 | ||||||
| chr5:127889681
|
T | C | 158 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 158 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(155): Show |
intron_variant | MODIFIER | c.535+14020T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889681 | ||||||
| chr5:127889749
|
G | A | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.535+14088G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889749 | ||||||
| chr5:127889764
|
G | C | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+14103G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889764 | ||||||
| chr5:127889881
|
A | AT | 63 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0039others(60): Show | 63 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.535+14234dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127889881 | |||||
| chr5:127889903
|
A | G | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.535+14242A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889903 | ||||||
| chr5:127889915
|
A | G | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 82 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.535+14254A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889915 | ||||||
| chr5:127889953
|
A | G | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.535+14292A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889953 | ||||||
| chr5:127889960
|
C | T | 84 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(81): Show | 84 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(81): Show |
intron_variant | MODIFIER | c.535+14299C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127889960 | ||||||
| chr5:127890222
|
A | T | 1 | a0001c0001t0001g0212 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.535+14561A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890222 | ||||||
| chr5:127890312
|
G | T | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+14651G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890312 | ||||||
| chr5:127890453
|
T | TAA | 41 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0026others(38): Show | 41 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.535+14808_535+1480 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127890453 | |||||
| chr5:127890453
|
T | TAAA | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 39 | HG00323.hp1 HG00735.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.535+14807_535+1480 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127890453 | |||||
| chr5:127890454
|
A | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+14793A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890454 | ||||||
| chr5:127890546
|
G | A | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.535+14885G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890546 | ||||||
| chr5:127890713
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.535+15052A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890713 | ||||||
| chr5:127890715
|
A | G | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+15054A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890715 | ||||||
| chr5:127890783
|
A | G | 49 | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0047others(46): Show | 49 | HG00323.hp2 HG00642.hp2 HG00738.hp1 others(46): Show |
intron_variant | MODIFIER | c.535+15122A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890783 | ||||||
| chr5:127890952
|
T | A | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
intron_variant | MODIFIER | c.535+15291T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127890952 | ||||||
| chr5:127891111
|
G | A | 1 | a0001c0002t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.535+15450G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891111 | ||||||
| chr5:127891172
|
C | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+15511C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891172 | ||||||
| chr5:127891207
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+15546C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891207 | ||||||
| chr5:127891227
|
ATT | A | 63 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0039others(60): Show | 63 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.535+15571_535+1557 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127891227 | |||||
| chr5:127891378
|
T | C | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.535+15717T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891378 | ||||||
| chr5:127891395
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+15734A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891395 | ||||||
| chr5:127891455
|
A | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+15794A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891455 | ||||||
| chr5:127891487
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+15826T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891487 | ||||||
| chr5:127891492
|
G | A | 157 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(154): Show | 157 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.535+15831G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891492 | ||||||
| chr5:127891498
|
T | TC | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+15840dupC | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127891498 | |||||
| chr5:127891560
|
T | A | 1 | a0001c0001t0001g0193 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.535+15899T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891560 | ||||||
| chr5:127891849
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+16188T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891849 | ||||||
| chr5:127891884
|
G | C | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
intron_variant | MODIFIER | c.535+16223G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891884 | ||||||
| chr5:127891933
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+16272C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127891933 | ||||||
| chr5:127892364
|
G | A | 1 | a0001c0001t0001g0192 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.535+16703G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892364 | ||||||
| chr5:127892392
|
C | A | 2 | a0001c0001t0001g0189a0001c0001t0001g0195 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.535+16731C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892392 | ||||||
| chr5:127892442
|
G | T | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.535+16781G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892442 | ||||||
| chr5:127892476
|
G | A | 1 | a0001c0002t0001g0027 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.535+16815G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892476 | ||||||
| chr5:127892485
|
A | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+16824A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892485 | ||||||
| chr5:127892612
|
A | G | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.535+16951A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892612 | ||||||
| chr5:127892823
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+17162C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127892823 | ||||||
| chr5:127893068
|
A | G | 3 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0097 | 3 | HG02717.hp1 HG02970.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.535+17407A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893068 | ||||||
| chr5:127893088
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+17427G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893088 | ||||||
| chr5:127893125
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.535+17464G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893125 | ||||||
| chr5:127893134
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0096 | 2 | HG02630.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.535+17473C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893134 | ||||||
| chr5:127893186
|
C | G | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.535+17525C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893186 | ||||||
| chr5:127893342
|
G | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+17681G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893342 | ||||||
| chr5:127893503
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 149 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(146): Show |
intron_variant | MODIFIER | c.535+17842T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893503 | ||||||
| chr5:127893568
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+17907C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893568 | ||||||
| chr5:127893643
|
T | A | 1 | a0001c0001t0001g0105 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.535+17982T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893643 | ||||||
| chr5:127893645
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+17984C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893645 | ||||||
| chr5:127893758
|
G | A | 1 | a0001c0002t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.535+18097G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893758 | ||||||
| chr5:127893989
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+18328T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127893989 | ||||||
| chr5:127894039
|
GT | G | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
intron_variant | MODIFIER | c.535+18380delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127894039 | |||||
| chr5:127894094
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+18433G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894094 | ||||||
| chr5:127894187
|
A | AT | 20 | a0001c0001t0001g0031a0001c0001t0001g0040a0001c0001t0001g0059others(17): Show | 20 | HG00597.hp2 HG00738.hp2 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.535+18549dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127894187 | |||||
| chr5:127894187
|
AT | A | 27 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0047others(24): Show | 27 | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.535+18549delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127894187 | |||||
| chr5:127894253
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18592T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894253 | ||||||
| chr5:127894254
|
G | A | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18593G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894254 | ||||||
| chr5:127894255
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18594T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894255 | ||||||
| chr5:127894261
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18600T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894261 | ||||||
| chr5:127894292
|
A | G | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18631A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894292 | ||||||
| chr5:127894302
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535+18641T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894302 | ||||||
| chr5:127894701
|
G | A | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
intron_variant | MODIFIER | c.535+19040G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894701 | ||||||
| chr5:127894740
|
C | T | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+19079C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127894740 | ||||||
| chr5:127895242
|
C | A | 1 | a0001c0001t0001g0150 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.535+19581C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895242 | ||||||
| chr5:127895264
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.535+19603A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895264 | ||||||
| chr5:127895392
|
C | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+19731C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895392 | ||||||
| chr5:127895606
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.535+19945G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895606 | ||||||
| chr5:127895612
|
G | A | 1 | a0001c0001t0001g0048 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.535+19951G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895612 | ||||||
| chr5:127895770
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+20109G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895770 | ||||||
| chr5:127895798
|
G | A | 3 | a0001c0001t0001g0121a0001c0001t0001g0193a0001c0001t0001g0229 | 3 | HG01099.hp1 HG03491.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.535+20137G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895798 | ||||||
| chr5:127895990
|
T | C | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.535+20329T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127895990 | ||||||
| chr5:127896148
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.535+20487G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896148 | ||||||
| chr5:127896206
|
A | T | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.535+20545A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896206 | ||||||
| chr5:127896434
|
CT | C | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 82 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.535+20786delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127896434 | |||||
| chr5:127896438
|
T | C | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+20777T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896438 | ||||||
| chr5:127896665
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+21004C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896665 | ||||||
| chr5:127896684
|
G | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+21023G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896684 | ||||||
| chr5:127896734
|
C | G | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.535+21073C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896734 | ||||||
| chr5:127896762
|
T | G | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+21101T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896762 | ||||||
| chr5:127896867
|
T | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+21206T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896867 | ||||||
| chr5:127896999
|
T | C | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 39 | HG00323.hp1 HG00735.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.535+21338T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127896999 | ||||||
| chr5:127897020
|
T | A | 1 | a0001c0001t0001g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.535+21359T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897020 | ||||||
| chr5:127897061
|
CT | C | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 82 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.535+21411delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127897061 | |||||
| chr5:127897064
|
T | C | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+21403T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897064 | ||||||
| chr5:127897164
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0096 | 2 | HG02630.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.535+21503T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897164 | ||||||
| chr5:127897273
|
C | T | 3 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0097 | 3 | HG02717.hp1 HG02970.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.535+21612C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897273 | ||||||
| chr5:127897359
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.535+21698A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897359 | ||||||
| chr5:127897716
|
C | A | 2 | a0001c0001t0001g0082a0001c0001t0001g0116 | 2 | NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.535+22055C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127897716 | ||||||
| chr5:127898112
|
G | GT | 6 | a0001c0001t0001g0057a0001c0001t0001g0065a0001c0001t0001g0104others(3): Show | 6 | HG02056.hp2 HG02615.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.535+22464dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127898112 | |||||
| chr5:127898123
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+22462T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898123 | ||||||
| chr5:127898167
|
G | A | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.535+22506G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898167 | ||||||
| chr5:127898221
|
G | T | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+22560G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898221 | ||||||
| chr5:127898225
|
A | C | 157 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(154): Show | 157 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.535+22564A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898225 | ||||||
| chr5:127898352
|
G | A | 1 | a0001c0001t0001g0113 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.535+22691G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898352 | ||||||
| chr5:127898404
|
C | T | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.535+22743C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898404 | ||||||
| chr5:127898421
|
A | G | 1 | a0001c0001t0001g0058 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.535+22760A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898421 | ||||||
| chr5:127898882
|
T | C | 159 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(156): Show | 159 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.535+23221T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898882 | ||||||
| chr5:127898992
|
G | A | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.535+23331G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127898992 | ||||||
| chr5:127899252
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 149 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(146): Show |
intron_variant | MODIFIER | c.535+23591T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127899252 | ||||||
| chr5:127899461
|
C | T | 71 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0034others(68): Show | 71 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.535+23800C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127899461 | ||||||
| chr5:127899561
|
C | CA | 67 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0039others(64): Show | 67 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.535+23918dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127899561 | |||||
| chr5:127899561
|
CA | C | 7 | a0001c0001t0001g0056a0001c0001t0001g0078a0001c0002t0001g0044others(4): Show | 7 | HG01243.hp1 HG02109.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.535+23918delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127899561 | |||||
| chr5:127899561
|
CAA | C | 70 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(67): Show | 70 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(67): Show |
intron_variant | MODIFIER | c.535+23917_535+2391 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127899561 | |||||
| chr5:127899579
|
A | AT | 4 | a0001c0001t0001g0026a0001c0001t0001g0110a0001c0001t0001g0119others(1): Show | 4 | HG01069.hp2 HG01071.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.535+23921dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127899579 | |||||
| chr5:127899632
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+23971C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127899632 | ||||||
| chr5:127899663
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+24002C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127899663 | ||||||
| chr5:127899955
|
A | G | 1 | a0001c0001t0001g0022 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.535+24294A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127899955 | ||||||
| chr5:127900066
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+24405A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900066 | ||||||
| chr5:127900305
|
T | G | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+24644T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900305 | ||||||
| chr5:127900322
|
C | T | 74 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0034others(71): Show | 74 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(71): Show |
intron_variant | MODIFIER | c.535+24661C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900322 | ||||||
| chr5:127900528
|
G | A | 73 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(70): Show | 73 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(70): Show |
intron_variant | MODIFIER | c.535+24867G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900528 | ||||||
| chr5:127900586
|
T | C | 1 | a0001c0001t0001g0137 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.535+24925T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900586 | ||||||
| chr5:127900960
|
T | G | 159 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(156): Show | 159 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.535+25299T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127900960 | ||||||
| chr5:127901467
|
G | A | 1 | a0001c0001t0001g0202 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.535+25806G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127901467 | ||||||
| chr5:127901674
|
G | A | 67 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 67 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.535+26013G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127901674 | ||||||
| chr5:127901731
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+26070C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127901731 | ||||||
| chr5:127901866
|
A | C | 1 | a0002c0005t0001g0106 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.535+26205A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127901866 | ||||||
| chr5:127901915
|
T | C | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.535+26254T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127901915 | ||||||
| chr5:127902221
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535+26560G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902221 | ||||||
| chr5:127902475
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0096 | 2 | HG02630.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.535+26814T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902475 | ||||||
| chr5:127902482
|
T | A | 1 | a0001c0001t0001g0194 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.535+26821T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902482 | ||||||
| chr5:127902605
|
G | T | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.535+26944G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902605 | ||||||
| chr5:127902729
|
A | C | 1 | a0001c0001t0001g0082 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.535+27068A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902729 | ||||||
| chr5:127902804
|
G | C | 1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.535+27143G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902804 | ||||||
| chr5:127902952
|
C | T | 1 | a0001c0001t0001g0072 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.535+27291C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127902952 | ||||||
| chr5:127903008
|
C | T | 67 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 67 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.535+27347C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903008 | ||||||
| chr5:127903234
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.535+27573T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903234 | ||||||
| chr5:127903249
|
T | C | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.535+27588T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903249 | ||||||
| chr5:127903374
|
C | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+27713C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903374 | ||||||
| chr5:127903390
|
C | T | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.535+27729C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903390 | ||||||
| chr5:127903669
|
A | G | 67 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 67 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.535+28008A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903669 | ||||||
| chr5:127903708
|
A | T | 141 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(138): Show | 141 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.535+28047A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127903708 | ||||||
| chr5:127904185
|
C | G | 2 | a0001c0001t0001g0082a0001c0001t0001g0116 | 2 | NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.535+28524C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904185 | ||||||
| chr5:127904492
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.535+28831A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904492 | ||||||
| chr5:127904495
|
CT | C | 27 | a0001c0001t0001g0025a0001c0001t0001g0088a0001c0001t0001g0095others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.535+28857delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127904495 | |||||
| chr5:127904495
|
CTTT | C | 61 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(58): Show | 61 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.535+28855_535+2885 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127904495 | |||||
| chr5:127904579
|
T | G | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.535+28918T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904579 | ||||||
| chr5:127904647
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+28986G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904647 | ||||||
| chr5:127904772
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+29111G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904772 | ||||||
| chr5:127904786
|
G | A | 8 | a0001c0001t0001g0026a0001c0001t0001g0087a0001c0001t0001g0110others(5): Show | 8 | HG01069.hp2 HG01071.hp2 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.535+29125G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904786 | ||||||
| chr5:127904831
|
C | T | 2 | a0001c0001t0001g0143a0001c0003t0001g0090 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.535+29170C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904831 | ||||||
| chr5:127904935
|
G | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+29274G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127904935 | ||||||
| chr5:127905009
|
T | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+29348T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905009 | ||||||
| chr5:127905117
|
A | G | 1 | a0001c0001t0001g0074 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.535+29456A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905117 | ||||||
| chr5:127905184
|
A | G | 1 | a0001c0001t0001g0053 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.535+29523A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905184 | ||||||
| chr5:127905229
|
AG | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+29569delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905229 | ||||||
| chr5:127905387
|
G | C | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.535+29726G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905387 | ||||||
| chr5:127905977
|
G | C | 1 | a0001c0001t0001g0014 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.535+30316G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127905977 | ||||||
| chr5:127906274
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+30613A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906274 | ||||||
| chr5:127906324
|
C | T | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.535+30663C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906324 | ||||||
| chr5:127906395
|
A | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.535+30734A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906395 | ||||||
| chr5:127906425
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.535+30764T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906425 | ||||||
| chr5:127906479
|
C | T | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.535+30818C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906479 | ||||||
| chr5:127906480
|
A | C | 1 | a0001c0001t0001g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.535+30819A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906480 | ||||||
| chr5:127906580
|
G | C | 1 | a0001c0001t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.535+30919G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906580 | ||||||
| chr5:127906687
|
G | A | 1 | a0001c0001t0001g0173 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.535+31026G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906687 | ||||||
| chr5:127906786
|
CA | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.535+31133delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127906786 | |||||
| chr5:127906961
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.535+31300C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127906961 | ||||||
| chr5:127907108
|
C | A | 3 | a0001c0001t0001g0129a0001c0001t0001g0162a0001c0001t0001g0163 | 3 | HG02056.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.535+31447C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907108 | ||||||
| chr5:127907170
|
A | T | 1 | a0001c0001t0001g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.535+31509A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907170 | ||||||
| chr5:127907213
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.535+31552G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907213 | ||||||
| chr5:127907230
|
T | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.535+31569T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907230 | ||||||
| chr5:127907379
|
T | C | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.535+31718T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907379 | ||||||
| chr5:127907417
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.535+31756C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907417 | ||||||
| chr5:127907508
|
CAG | C | 31 | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0001g0071others(28): Show | 31 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.535+31853_535+3185 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127907508 | |||||
| chr5:127907517
|
T | TAATATAA others(11): Show |
1 | a0001c0001t0001g0057 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.535+31858_535+3187 others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127907517 | |||||
| chr5:127907622
|
C | T | 1 | a0001c0001t0001g0057 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.535+31961C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907622 | ||||||
| chr5:127907766
|
T | C | 1 | a0001c0001t0001g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.535+32105T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907766 | ||||||
| chr5:127907777
|
C | A | 2 | a0001c0002t0001g0084a0001c0002t0001g0085 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.535+32116C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907777 | ||||||
| chr5:127907808
|
C | G | 158 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 158 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(155): Show |
intron_variant | MODIFIER | c.535+32147C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907808 | ||||||
| chr5:127907826
|
T | TC | 2 | a0001c0001t0001g0207a0001c0001t0001g0223 | 2 | HG01993.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.535+32165_535+3216 others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907826 | ||||||
| chr5:127907832
|
G | A | 80 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0026others(77): Show | 80 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(77): Show |
intron_variant | MODIFIER | c.535+32171G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127907832 | ||||||
| chr5:127908047
|
G | A | 13 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(10): Show | 13 | HG00323.hp1 HG01516.hp1 HG01943.hp1 others(10): Show |
intron_variant | MODIFIER | c.535+32386G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908047 | ||||||
| chr5:127908213
|
A | G | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.535+32552A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908213 | ||||||
| chr5:127908429
|
G | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.536-32753G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908429 | ||||||
| chr5:127908624
|
T | G | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-32558T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908624 | ||||||
| chr5:127908701
|
C | T | 2 | a0001c0001t0001g0046a0001c0001t0001g0097 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.536-32481C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908701 | ||||||
| chr5:127908702
|
G | A | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.536-32480G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908702 | ||||||
| chr5:127908814
|
C | T | 228 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.536-32368C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908814 | ||||||
| chr5:127908960
|
C | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.536-32222C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908960 | ||||||
| chr5:127908962
|
A | G | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | HG01891.hp2 HG02965.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-32220A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908962 | ||||||
| chr5:127908990
|
T | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-32192T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127908990 | ||||||
| chr5:127909064
|
G | A | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-32118G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909064 | ||||||
| chr5:127909190
|
G | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.536-31992G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909190 | ||||||
| chr5:127909317
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.536-31865T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909317 | ||||||
| chr5:127909451
|
G | A | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.536-31731G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909451 | ||||||
| chr5:127909492
|
T | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-31690T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909492 | ||||||
| chr5:127909521
|
T | C | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-31661T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909521 | ||||||
| chr5:127909630
|
G | T | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.536-31552G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909630 | ||||||
| chr5:127909903
|
C | T | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-31279C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909903 | ||||||
| chr5:127909927
|
C | A | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.536-31255C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127909927 | ||||||
| chr5:127910052
|
A | T | 9 | a0001c0001t0001g0088a0001c0001t0001g0095a0001c0001t0001g0170others(6): Show | 9 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-31130A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910052 | ||||||
| chr5:127910228
|
G | T | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.536-30954G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910228 | ||||||
| chr5:127910540
|
G | A | 158 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 158 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(155): Show |
intron_variant | MODIFIER | c.536-30642G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910540 | ||||||
| chr5:127910541
|
C | A | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-30641C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910541 | ||||||
| chr5:127910604
|
T | C | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.536-30578T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910604 | ||||||
| chr5:127910628
|
A | C | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-30554A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910628 | ||||||
| chr5:127910641
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG00735.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.536-30541G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910641 | ||||||
| chr5:127910760
|
C | T | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | HG01891.hp2 HG02965.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-30422C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127910760 | ||||||
| chr5:127911031
|
T | A | 67 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 67 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.536-30151T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911031 | ||||||
| chr5:127911334
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.536-29848C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911334 | ||||||
| chr5:127911376
|
G | A | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-29806G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911376 | ||||||
| chr5:127911385
|
A | G | 1 | a0001c0001t0001g0209 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.536-29797A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911385 | ||||||
| chr5:127911483
|
G | A | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.536-29699G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911483 | ||||||
| chr5:127911533
|
A | G | 3 | a0001c0002t0001g0044a0001c0002t0001g0069a0001c0002t0001g0070 | 3 | HG02896.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.536-29649A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911533 | ||||||
| chr5:127911539
|
T | C | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.536-29643T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911539 | ||||||
| chr5:127911699
|
C | CT | 9 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0095others(6): Show | 9 | HG00597.hp2 HG00735.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.536-29462dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127911699 | |||||
| chr5:127911699
|
CT | C | 140 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(137): Show | 140 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.536-29462delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127911699 | |||||
| chr5:127911699
|
CTT | C | 14 | a0001c0001t0001g0025a0001c0001t0001g0052a0001c0001t0001g0057others(11): Show | 14 | HG01256.hp1 HG01891.hp2 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.536-29463_536-2946 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127911699 | |||||
| chr5:127911752
|
G | A | 79 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0026others(76): Show | 79 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(76): Show |
intron_variant | MODIFIER | c.536-29430G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911752 | ||||||
| chr5:127911908
|
A | T | 147 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(144): Show | 147 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.536-29274A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911908 | ||||||
| chr5:127911981
|
G | A | 1 | a0001c0002t0001g0036 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.536-29201G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127911981 | ||||||
| chr5:127912027
|
T | C | 2 | a0001c0001t0001g0189a0001c0001t0001g0195 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.536-29155T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912027 | ||||||
| chr5:127912073
|
C | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.536-29109C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912073 | ||||||
| chr5:127912088
|
AT | A | 28 | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0001g0071others(25): Show | 28 | HG00438.hp1 HG00597.hp2 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-29079delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912088 | |||||
| chr5:127912239
|
T | A | 1 | a0001c0001t0001g0057 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.536-28943T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912239 | ||||||
| chr5:127912419
|
C | CA | 63 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(60): Show | 63 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.536-28742dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAA | 10 | a0001c0001t0001g0057a0001c0001t0001g0071a0001c0001t0001g0114others(7): Show | 10 | HG00597.hp2 HG02004.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.536-28743_536-2874 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAA | 5 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0226others(2): Show | 5 | HG01243.hp1 HG02615.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-28747_536-2874 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(3): Show |
1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.536-28751_536-2874 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(4): Show |
37 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0034others(34): Show | 37 | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.536-28752_536-2874 others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(5): Show |
25 | a0001c0001t0001g0068a0001c0001t0001g0108a0001c0001t0001g0117others(22): Show | 25 | HG00642.hp1 HG01167.hp2 HG01169.hp1 others(22): Show |
intron_variant | MODIFIER | c.536-28753_536-2874 others(16): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(6): Show |
10 | a0001c0001t0001g0051a0001c0001t0001g0088a0001c0001t0001g0134others(7): Show | 10 | HG00639.hp2 HG01256.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.536-28754_536-2874 others(17): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(7): Show |
5 | a0001c0001t0001g0039a0001c0001t0001g0082a0001c0001t0001g0095others(2): Show | 5 | HG02055.hp1 HG02055.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-28755_536-2874 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(8): Show |
1 | a0001c0001t0001g0020 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.536-28756_536-2874 others(19): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912419
|
C | CAAAAAAA others(11): Show |
1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.536-28759_536-2874 others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127912419 | |||||
| chr5:127912559
|
A | G | 80 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0026others(77): Show | 80 | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(77): Show |
intron_variant | MODIFIER | c.536-28623A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912559 | ||||||
| chr5:127912630
|
G | A | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.536-28552G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912630 | ||||||
| chr5:127912633
|
G | A | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.536-28549G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912633 | ||||||
| chr5:127912793
|
A | G | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-28389A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912793 | ||||||
| chr5:127912916
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.536-28266G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912916 | ||||||
| chr5:127912976
|
T | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-28206T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127912976 | ||||||
| chr5:127913098
|
G | T | 3 | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0222 | 3 | NA18988.hp1 NA18994.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.536-28084G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913098 | ||||||
| chr5:127913113
|
T | C | 2 | a0001c0001t0001g0025a0001c0001t0001g0226 | 2 | HG02886.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.536-28069T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913113 | ||||||
| chr5:127913348
|
A | C | 1 | a0001c0001t0001g0057 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.536-27834A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913348 | ||||||
| chr5:127913444
|
A | G | 65 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 65 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.536-27738A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913444 | ||||||
| chr5:127913483
|
G | A | 1 | a0001c0001t0001g0193 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.536-27699G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913483 | ||||||
| chr5:127913502
|
G | A | 68 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(65): Show | 68 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(65): Show |
intron_variant | MODIFIER | c.536-27680G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913502 | ||||||
| chr5:127913926
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-27256G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127913926 | ||||||
| chr5:127914290
|
C | T | 102 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(99): Show | 102 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(99): Show |
intron_variant | MODIFIER | c.536-26892C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914290 | ||||||
| chr5:127914310
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.536-26872A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914310 | ||||||
| chr5:127914456
|
A | G | 5 | a0001c0001t0001g0226a0001c0002t0001g0084a0001c0002t0001g0085others(2): Show | 5 | HG01243.hp1 HG02258.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-26726A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914456 | ||||||
| chr5:127914653
|
A | T | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.536-26529A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914653 | ||||||
| chr5:127914763
|
G | C | 31 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(28): Show | 31 | HG00323.hp1 HG00735.hp2 HG01516.hp1 others(28): Show |
intron_variant | MODIFIER | c.536-26419G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914763 | ||||||
| chr5:127914980
|
T | C | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0026others(15): Show | 18 | HG01069.hp2 HG01071.hp2 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.536-26202T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127914980 | ||||||
| chr5:127915127
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-26055G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915127 | ||||||
| chr5:127915213
|
A | T | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-25969A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915213 | ||||||
| chr5:127915218
|
AC | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0104others(7): Show | 10 | HG01884.hp2 HG02922.hp2 HG02976.hp1 others(7): Show |
intron_variant | MODIFIER | c.536-25963delC | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915218 | ||||||
| chr5:127915280
|
T | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-25902T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915280 | ||||||
| chr5:127915386
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.536-25796T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915386 | ||||||
| chr5:127915414
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0123others(6): Show | 9 | HG01884.hp2 HG02922.hp2 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-25768C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915414 | ||||||
| chr5:127915421
|
G | A | 1 | a0001c0001t0001g0042 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.536-25761G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915421 | ||||||
| chr5:127915433
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-25749A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915433 | ||||||
| chr5:127915534
|
G | A | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.536-25648G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915534 | ||||||
| chr5:127915642
|
A | G | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.536-25540A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915642 | ||||||
| chr5:127915660
|
C | T | 9 | a0001c0001t0001g0026a0001c0001t0001g0110a0001c0001t0001g0111others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.536-25522C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915660 | ||||||
| chr5:127915672
|
C | T | 1 | a0001c0001t0001g0134 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.536-25510C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915672 | ||||||
| chr5:127915705
|
A | T | 1 | a0001c0001t0001g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.536-25477A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915705 | ||||||
| chr5:127915725
|
AT | A | 48 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(45): Show | 48 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.536-25445delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127915725 | |||||
| chr5:127915757
|
G | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-25425G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915757 | ||||||
| chr5:127915801
|
C | T | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-25381C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915801 | ||||||
| chr5:127915947
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-25235A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127915947 | ||||||
| chr5:127916403
|
G | A | 48 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(45): Show | 48 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.536-24779G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916403 | ||||||
| chr5:127916416
|
G | A | 37 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(34): Show | 37 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.536-24766G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916416 | ||||||
| chr5:127916476
|
A | G | 4 | a0001c0001t0001g0048a0001c0001t0001g0074a0001c0001t0001g0138others(1): Show | 4 | HG00408.hp2 NA18941.hp2 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.536-24706A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916476 | ||||||
| chr5:127916895
|
A | G | 11 | a0001c0001t0001g0026a0001c0001t0001g0110a0001c0001t0001g0111others(8): Show | 11 | HG01069.hp2 HG01071.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.536-24287A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916895 | ||||||
| chr5:127916955
|
T | C | 82 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(79): Show | 82 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.536-24227T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916955 | ||||||
| chr5:127916971
|
T | C | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.536-24211T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127916971 | ||||||
| chr5:127917068
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.536-24114C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917068 | ||||||
| chr5:127917075
|
G | A | 17 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0095others(14): Show | 17 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.536-24107G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917075 | ||||||
| chr5:127917194
|
C | G | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.536-23988C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917194 | ||||||
| chr5:127917266
|
G | T | 38 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(35): Show | 38 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.536-23916G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917266 | ||||||
| chr5:127917364
|
C | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0147 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.536-23818C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917364 | ||||||
| chr5:127917484
|
T | G | 1 | a0001c0001t0001g0009 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.536-23698T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917484 | ||||||
| chr5:127917533
|
CATTTAAG others(4): Show |
C | 1 | a0001c0001t0001g0133 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.536-23645_536-2363 others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127917533 | |||||
| chr5:127917685
|
G | A | 37 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(34): Show | 37 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.536-23497G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917685 | ||||||
| chr5:127917719
|
C | T | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.536-23463C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917719 | ||||||
| chr5:127917720
|
G | A | 63 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(60): Show | 63 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(60): Show |
intron_variant | MODIFIER | c.536-23462G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917720 | ||||||
| chr5:127917721
|
G | A | 1 | a0001c0001t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.536-23461G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917721 | ||||||
| chr5:127917761
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-23421T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917761 | ||||||
| chr5:127917798
|
T | G | 2 | a0001c0001t0001g0080a0001c0001t0001g0166 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.536-23384T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917798 | ||||||
| chr5:127917822
|
C | T | 1 | a0001c0001t0001g0188 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.536-23360C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917822 | ||||||
| chr5:127917833
|
C | T | 6 | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0053others(3): Show | 6 | HG02056.hp1 HG02132.hp2 NA18963.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-23349C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917833 | ||||||
| chr5:127917934
|
G | A | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.536-23248G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917934 | ||||||
| chr5:127917969
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-23213G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127917969 | ||||||
| chr5:127918031
|
A | G | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-23151A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918031 | ||||||
| chr5:127918050
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-23132A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918050 | ||||||
| chr5:127918051
|
C | T | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-23131C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918051 | ||||||
| chr5:127918068
|
T | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-23114T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918068 | ||||||
| chr5:127918111
|
G | T | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-23071G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918111 | ||||||
| chr5:127918165
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-23017A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918165 | ||||||
| chr5:127918216
|
T | TA | 9 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(6): Show | 9 | HG01081.hp2 HG01169.hp1 HG01993.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-22947dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(1): Show |
40 | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0048others(37): Show | 40 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(37): Show |
intron_variant | MODIFIER | c.536-22954_536-2294 others(12): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(3): Show |
1 | a0001c0001t0001g0201 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.536-22956_536-2294 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(9): Show |
4 | a0001c0001t0001g0026a0001c0001t0001g0110a0001c0001t0001g0117others(1): Show | 4 | HG01069.hp2 HG01071.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-22962_536-2294 others(20): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(10): Show |
4 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0120others(1): Show | 4 | HG02258.hp1 HG02630.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.536-22963_536-2294 others(21): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(11): Show |
2 | a0001c0002t0001g0084a0003c0004t0001g0093 | 2 | HG02615.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.536-22964_536-2294 others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(14): Show |
3 | a0001c0001t0001g0082a0001c0001t0001g0116a0003c0004t0001g0089 | 3 | HG01243.hp1 NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.536-22947_536-2294 others(25): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(16): Show |
1 | a0001c0002t0001g0027 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.536-22947_536-2294 others(27): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(17): Show |
3 | a0001c0002t0001g0028a0001c0002t0001g0029a0001c0002t0001g0036 | 3 | HG00642.hp1 HG01884.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.536-22947_536-2294 others(28): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(19): Show |
1 | a0001c0002t0001g0037 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.536-22947_536-2294 others(30): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(24): Show |
1 | a0001c0001t0001g0147 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.536-22947_536-2294 others(35): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(26): Show |
3 | a0001c0001t0001g0143a0001c0001t0001g0145a0001c0003t0001g0092 | 3 | HG02965.hp2 HG03486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.536-22947_536-2294 others(37): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(34): Show |
1 | a0001c0002t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.536-22947_536-2294 others(45): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(35): Show |
1 | a0001c0001t0001g0088 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.536-22947_536-2294 others(46): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
T | TAAAAAAA others(36): Show |
1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.536-22947_536-2294 others(47): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918216
|
TA | T | 6 | a0001c0001t0001g0094a0001c0001t0001g0148a0001c0001t0001g0232others(3): Show | 6 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(3): Show |
intron_variant | MODIFIER | c.536-22947delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918216 | |||||
| chr5:127918221
|
A | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22961A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918221 | ||||||
| chr5:127918292
|
C | T | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.536-22890C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918292 | ||||||
| chr5:127918354
|
G | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22828G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918354 | ||||||
| chr5:127918404
|
C | G | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-22778C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918404 | ||||||
| chr5:127918457
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22725C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918457 | ||||||
| chr5:127918560
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0136 | 2 | NA18941.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.536-22622C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918560 | ||||||
| chr5:127918604
|
C | A | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-22578C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918604 | ||||||
| chr5:127918714
|
G | T | 229 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(226): Show | 229 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(226): Show |
intron_variant | MODIFIER | c.536-22468G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918714 | ||||||
| chr5:127918755
|
C | T | 3 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0070 | 3 | HG02818.hp2 HG02896.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.536-22427C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918755 | ||||||
| chr5:127918785
|
T | G | 119 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(116): Show | 119 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(116): Show |
intron_variant | MODIFIER | c.536-22397T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918785 | ||||||
| chr5:127918857
|
A | ATG | 118 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(115): Show | 118 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.536-22319_536-2231 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918857 | |||||
| chr5:127918865
|
A | G | 1 | a0001c0001t0001g0234 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.536-22317A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918865 | ||||||
| chr5:127918903
|
A | C | 3 | a0001c0001t0001g0143a0001c0001t0001g0181a0001c0001t0001g0182 | 3 | HG02055.hp1 HG02965.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.536-22279A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918903 | ||||||
| chr5:127918935
|
GTGTGTAT others(3): Show |
G | 1 | a0001c0001t0001g0111 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.536-22231_536-2222 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918935 | |||||
| chr5:127918951
|
A | G | 27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-22231A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918951 | ||||||
| chr5:127918953
|
A | G | 27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-22229A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918953 | ||||||
| chr5:127918955
|
A | C | 27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-22227A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127918955 | ||||||
| chr5:127918955
|
ATG | A | 48 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(45): Show | 48 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.536-22219_536-2221 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918955 | |||||
| chr5:127918971
|
GTA | G | 32 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(29): Show | 32 | HG00323.hp1 HG00735.hp2 HG01516.hp1 others(29): Show |
intron_variant | MODIFIER | c.536-22207_536-2220 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127918971 | |||||
| chr5:127919005
|
ATGTATAT others(13): Show |
A | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.536-22161_536-2214 others(24): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919005 | |||||
| chr5:127919013
|
ATGTG | A | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.536-22163_536-2216 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919013 | |||||
| chr5:127919047
|
CTG | C | 38 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(35): Show | 38 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.536-22127_536-2212 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919047 | |||||
| chr5:127919051
|
G | T | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-22131G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919051 | ||||||
| chr5:127919057
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22125A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919057 | ||||||
| chr5:127919061
|
G | C | 3 | a0001c0001t0001g0143a0001c0001t0001g0181a0001c0001t0001g0182 | 3 | HG02055.hp1 HG02965.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.536-22121G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919061 | ||||||
| chr5:127919065
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22117G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919065 | ||||||
| chr5:127919067
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-22115G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919067 | ||||||
| chr5:127919067
|
GTA | G | 4 | a0001c0001t0001g0039a0001c0001t0001g0104a0001c0001t0001g0192others(1): Show | 4 | HG02135.hp2 HG03041.hp1 NA19002.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-22109_536-2210 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919067 | |||||
| chr5:127919071
|
A | G | 2 | a0001c0001t0001g0194a0001c0001t0001g0226 | 2 | HG02135.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.536-22111A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919071 | ||||||
| chr5:127919071
|
ATATGTG | A | 35 | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0048others(32): Show | 35 | HG00408.hp2 HG00597.hp2 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.536-22109_536-2210 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919071 | |||||
| chr5:127919071
|
ATATGTGT others(3): Show |
A | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.536-22109_536-2210 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919071 | |||||
| chr5:127919071
|
ATATGTGT others(7): Show |
A | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.536-22109_536-2209 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919071 | |||||
| chr5:127919073
|
A | ATG | 9 | a0001c0001t0001g0059a0001c0001t0001g0094a0001c0001t0001g0101others(6): Show | 9 | HG00738.hp2 HG01891.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-22079_536-2207 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919073 | |||||
| chr5:127919073
|
A | ATGTG | 43 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(40): Show | 43 | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.536-22081_536-2207 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919073 | |||||
| chr5:127919073
|
A | ATGTGTG | 19 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0046others(16): Show | 19 | HG01069.hp2 HG01071.hp2 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.536-22083_536-2207 others(10): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919073 | |||||
| chr5:127919073
|
A | G | 11 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0113others(8): Show | 11 | HG01884.hp2 HG02809.hp1 HG02886.hp2 others(8): Show |
intron_variant | MODIFIER | c.536-22109A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919073 | ||||||
| chr5:127919073
|
ATG | A | 3 | a0001c0001t0001g0148a0001c0001t0001g0193a0001c0001t0001g0213 | 3 | HG02071.hp1 NA18961.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.536-22079_536-2207 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919073 | |||||
| chr5:127919243
|
C | G | 1 | a0001c0003t0001g0092 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.536-21939C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919243 | ||||||
| chr5:127919382
|
T | C | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-21800T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919382 | ||||||
| chr5:127919435
|
A | ACTC | 113 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(110): Show | 113 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.536-21745_536-2174 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919435 | |||||
| chr5:127919625
|
C | G | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-21557C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919625 | ||||||
| chr5:127919627
|
G | A | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-21555G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919627 | ||||||
| chr5:127919629
|
A | G | 82 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(79): Show | 82 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.536-21553A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919629 | ||||||
| chr5:127919772
|
A | C | 14 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0095others(11): Show | 14 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.536-21410A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919772 | ||||||
| chr5:127919804
|
TCTCTGTG others(11): Show |
T | 1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.536-21355_536-2133 others(22): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127919804 | |||||
| chr5:127919837
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-21345G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919837 | ||||||
| chr5:127919915
|
C | G | 2 | a0003c0004t0001g0089a0003c0004t0001g0093 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.536-21267C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919915 | ||||||
| chr5:127919961
|
C | T | 1 | a0001c0001t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.536-21221C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127919961 | ||||||
| chr5:127920367
|
A | G | 1 | a0001c0001t0001g0142 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.536-20815A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920367 | ||||||
| chr5:127920407
|
C | CT | 27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-20757dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127920407 | |||||
| chr5:127920407
|
C | CTT | 39 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(36): Show | 39 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.536-20758_536-2075 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127920407 | |||||
| chr5:127920407
|
C | CTTT | 10 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0104others(7): Show | 10 | HG01884.hp2 HG02922.hp2 HG02976.hp1 others(7): Show |
intron_variant | MODIFIER | c.536-20759_536-2075 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127920407 | |||||
| chr5:127920448
|
G | A | 1 | a0001c0001t0001g0148 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.536-20734G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920448 | ||||||
| chr5:127920501
|
C | T | 48 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(45): Show | 48 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.536-20681C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920501 | ||||||
| chr5:127920590
|
T | C | 6 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 6 | HG00323.hp1 HG01516.hp1 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-20592T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920590 | ||||||
| chr5:127920618
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0123others(6): Show | 9 | HG01884.hp2 HG02922.hp2 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-20564C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920618 | ||||||
| chr5:127920679
|
A | C | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.536-20503A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920679 | ||||||
| chr5:127920691
|
A | G | 2 | a0001c0001t0001g0123a0001c0001t0001g0234 | 2 | HG02976.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.536-20491A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920691 | ||||||
| chr5:127920738
|
TG | T | 5 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0044others(2): Show | 5 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-20443delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920738 | ||||||
| chr5:127920876
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-20306C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920876 | ||||||
| chr5:127920885
|
G | A | 82 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(79): Show | 82 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.536-20297G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127920885 | ||||||
| chr5:127921087
|
A | AGAAAG | 39 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0038others(36): Show | 39 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.536-20072_536-2006 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(3): Show |
28 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(25): Show | 28 | HG00323.hp1 HG00735.hp2 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.536-20077_536-2006 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(8): Show |
1 | a0001c0001t0001g0021 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.536-20082_536-2006 others(19): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(13): Show |
7 | a0001c0001t0001g0098a0001c0001t0001g0123a0001c0001t0001g0165others(4): Show | 7 | HG01884.hp2 HG02922.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.536-20087_536-2006 others(24): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(18): Show |
1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.536-20092_536-2006 others(29): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(23): Show |
1 | a0001c0002t0001g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.536-20068_536-2006 others(34): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(28): Show |
1 | a0001c0002t0001g0044 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.536-20068_536-2006 others(39): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(33): Show |
1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-20068_536-2006 others(44): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(38): Show |
1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.536-20068_536-2006 others(49): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
A | AGAAAGGA others(43): Show |
1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.536-20068_536-2006 others(54): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921087
|
AGAAAG | A | 5 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0055others(2): Show | 5 | HG02055.hp2 NA19010.hp2 NA19054.hp1 others(2): Show |
intron_variant | MODIFIER | c.536-20072_536-2006 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921087 | |||||
| chr5:127921100
|
A | AAGGAAAG others(23): Show |
1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-20068_536-2006 others(34): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921100 | |||||
| chr5:127921100
|
A | AAGGAAAG others(10): Show |
27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-20073_536-2007 others(21): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921100 | |||||
| chr5:127921110
|
A | AAGGAAAG others(55): Show |
1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.536-20068_536-2006 others(66): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921110 | |||||
| chr5:127921110
|
A | AAGGAAAG others(35): Show |
1 | a0001c0002t0001g0081 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.536-20068_536-2006 others(46): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921110 | |||||
| chr5:127921110
|
A | AAGGAAAG others(25): Show |
1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.536-20068_536-2006 others(36): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921110 | |||||
| chr5:127921110
|
A | AAGGAGAA others(15): Show |
43 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(40): Show | 43 | HG00323.hp1 HG00735.hp2 HG01516.hp1 others(40): Show |
intron_variant | MODIFIER | c.536-20050_536-2002 others(26): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921110 | |||||
| chr5:127921110
|
A | AAGGAGAA others(37): Show |
3 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0226 | 3 | HG02683.hp1 HG02886.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.536-20029_536-2002 others(48): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921110 | |||||
| chr5:127921110
|
A | C | 27 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(24): Show | 27 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.536-20072A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921110 | ||||||
| chr5:127921154
|
A | C | 37 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(34): Show | 37 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.536-20028A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921154 | ||||||
| chr5:127921157
|
GAGAAA | G | 13 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0110others(10): Show | 13 | HG01069.hp2 HG01071.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.536-20005_536-2000 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921157 | |||||
| chr5:127921162
|
A | AGGAGAGG others(10): Show |
37 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(34): Show | 37 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.536-20020_536-2001 others(21): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921162 | ||||||
| chr5:127921268
|
G | A | 38 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(35): Show | 38 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.536-19914G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921268 | ||||||
| chr5:127921341
|
AAAT | A | 48 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(45): Show | 48 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.536-19838_536-1983 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127921341 | |||||
| chr5:127921540
|
G | C | 47 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(44): Show | 47 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.536-19642G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921540 | ||||||
| chr5:127921712
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.536-19470C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921712 | ||||||
| chr5:127921714
|
G | A | 75 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(72): Show | 75 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(72): Show |
intron_variant | MODIFIER | c.536-19468G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921714 | ||||||
| chr5:127921792
|
G | T | 1 | a0001c0001t0001g0221 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.536-19390G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921792 | ||||||
| chr5:127921873
|
A | G | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-19309A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921873 | ||||||
| chr5:127921953
|
G | A | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.536-19229G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921953 | ||||||
| chr5:127921973
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-19209C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127921973 | ||||||
| chr5:127922003
|
A | G | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-19179A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922003 | ||||||
| chr5:127922209
|
A | T | 28 | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0088others(25): Show | 28 | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.536-18973A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922209 | ||||||
| chr5:127922244
|
A | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-18938A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922244 | ||||||
| chr5:127922416
|
C | T | 1 | a0001c0001t0001g0054 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.536-18766C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922416 | ||||||
| chr5:127922509
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(44): Show | 47 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.536-18673C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922509 | ||||||
| chr5:127922648
|
C | T | 5 | a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(2): Show | 5 | NA18977.hp1 NA18994.hp2 NA19066.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-18534C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922648 | ||||||
| chr5:127922786
|
C | CA | 3 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | HG01891.hp2 HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.536-18395dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127922786 | |||||
| chr5:127922848
|
G | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-18334G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127922848 | ||||||
| chr5:127923122
|
A | G | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.536-18060A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923122 | ||||||
| chr5:127923377
|
C | CTTTT | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0099others(2): Show | 5 | HG01081.hp2 HG02257.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-17793_536-1779 others(8): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127923377 | |||||
| chr5:127923393
|
C | T | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-17789C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923393 | ||||||
| chr5:127923401
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-17781A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923401 | ||||||
| chr5:127923409
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-17773A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923409 | ||||||
| chr5:127923419
|
C | A | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-17763C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923419 | ||||||
| chr5:127923527
|
G | A | 1 | a0001c0001t0001g0232 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.536-17655G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923527 | ||||||
| chr5:127923669
|
G | A | 47 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(44): Show | 47 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.536-17513G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923669 | ||||||
| chr5:127923672
|
C | T | 1 | a0001c0001t0001g0222 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.536-17510C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923672 | ||||||
| chr5:127923704
|
A | G | 73 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(70): Show | 73 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.536-17478A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923704 | ||||||
| chr5:127923848
|
C | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-17334C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923848 | ||||||
| chr5:127923889
|
G | T | 1 | a0001c0001t0001g0207 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.536-17293G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923889 | ||||||
| chr5:127923901
|
G | C | 2 | a0001c0001t0001g0156a0001c0001t0001g0157 | 2 | NA19000.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.536-17281G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923901 | ||||||
| chr5:127923927
|
C | T | 5 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0044others(2): Show | 5 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-17255C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923927 | ||||||
| chr5:127923929
|
A | G | 14 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0095others(11): Show | 14 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.536-17253A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127923929 | ||||||
| chr5:127924096
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-17086G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924096 | ||||||
| chr5:127924258
|
A | C | 1 | a0001c0001t0001g0094 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.536-16924A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924258 | ||||||
| chr5:127924311
|
C | T | 1 | a0001c0001t0001g0154 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.536-16871C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924311 | ||||||
| chr5:127924590
|
G | T | 1 | a0001c0001t0001g0231 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.536-16592G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924590 | ||||||
| chr5:127924637
|
T | C | 5 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0044others(2): Show | 5 | HG02818.hp2 HG02896.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-16545T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924637 | ||||||
| chr5:127924807
|
C | T | 78 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(75): Show | 78 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.536-16375C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924807 | ||||||
| chr5:127924914
|
C | T | 1 | a0001c0001t0001g0043 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.536-16268C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924914 | ||||||
| chr5:127924935
|
TG | T | 3 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0070 | 3 | HG02818.hp2 HG02896.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.536-16245delG | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127924935 | |||||
| chr5:127924956
|
A | G | 73 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(70): Show | 73 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.536-16226A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924956 | ||||||
| chr5:127924979
|
A | G | 20 | a0001c0001t0001g0038a0001c0001t0001g0155a0001c0001t0001g0184others(17): Show | 20 | HG02040.hp2 HG02132.hp1 NA18944.hp1 others(17): Show |
intron_variant | MODIFIER | c.536-16203A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127924979 | ||||||
| chr5:127925005
|
A | C | 6 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(3): Show | 6 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-16177A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925005 | ||||||
| chr5:127925138
|
T | TGAAAATA others(112): Show |
58 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(55): Show | 58 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(55): Show |
intron_variant | MODIFIER | c.536-16040_536-1592 others(123): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127925138 | |||||
| chr5:127925185
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-15997A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925185 | ||||||
| chr5:127925263
|
T | C | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-15919T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925263 | ||||||
| chr5:127925288
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.536-15894G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925288 | ||||||
| chr5:127925429
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0123others(6): Show | 9 | HG01884.hp2 HG02922.hp2 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.536-15753C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925429 | ||||||
| chr5:127925711
|
G | T | 59 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(56): Show | 59 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.536-15471G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925711 | ||||||
| chr5:127925883
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-15299G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925883 | ||||||
| chr5:127925970
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.536-15212C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127925970 | ||||||
| chr5:127926004
|
T | G | 59 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0026others(56): Show | 59 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.536-15178T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926004 | ||||||
| chr5:127926031
|
C | CA | 30 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 30 | HG00323.hp1 HG00735.hp2 HG01516.hp1 others(27): Show |
intron_variant | MODIFIER | c.536-15144dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127926031 | |||||
| chr5:127926147
|
G | A | 1 | a0001c0001t0001g0123 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.536-15035G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926147 | ||||||
| chr5:127926385
|
T | G | 41 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(38): Show | 41 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.536-14797T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926385 | ||||||
| chr5:127926390
|
C | T | 5 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(2): Show | 5 | HG01081.hp2 HG02257.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.536-14792C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926390 | ||||||
| chr5:127926482
|
G | C | 19 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0095others(16): Show | 19 | HG00639.hp2 HG00642.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.536-14700G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926482 | ||||||
| chr5:127926525
|
G | A | 41 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0038others(38): Show | 41 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.536-14657G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926525 | ||||||
| chr5:127926596
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.536-14586G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926596 | ||||||
| chr5:127926738
|
C | T | 6 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0116others(3): Show | 6 | HG00639.hp2 HG02258.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.536-14444C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926738 | ||||||
| chr5:127926765
|
T | C | 18 | a0001c0001t0001g0082a0001c0001t0001g0094a0001c0001t0001g0095others(15): Show | 18 | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.536-14417T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926765 | ||||||
| chr5:127926841
|
C | A | 3 | a0001c0001t0001g0094a0001c0001t0001g0232a0001c0002t0001g0070 | 3 | HG02818.hp2 HG02896.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.536-14341C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926841 | ||||||
| chr5:127926861
|
A | C | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.536-14321A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127926861 | ||||||
| chr5:127927669
|
G | T | 6 | a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(3): Show | 6 | NA18977.hp1 NA18984.hp2 NA18994.hp2 others(3): Show |
intron_variant | MODIFIER | c.536-13513G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127927669 | ||||||
| chr5:127927751
|
C | A | 203 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(200): Show | 203 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(200): Show |
intron_variant | MODIFIER | c.536-13431C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127927751 | ||||||
| chr5:127927841
|
GT | G | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-13333delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127927841 | |||||
| chr5:127927888
|
T | C | 2 | a0001c0002t0001g0044a0001c0002t0001g0069 | 2 | HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.536-13294T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127927888 | ||||||
| chr5:127927920
|
C | G | 3 | a0001c0001t0001g0087a0001c0001t0001g0103a0001c0002t0001g0037 | 3 | HG03209.hp2 HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.536-13262C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127927920 | ||||||
| chr5:127927937
|
C | CT | 6 | a0001c0001t0001g0025a0001c0001t0001g0040a0001c0001t0001g0125others(3): Show | 6 | HG00642.hp2 HG01175.hp2 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.536-13224dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127927937 | |||||
| chr5:127927937
|
CT | C | 8 | a0001c0001t0001g0041a0001c0001t0001g0057a0001c0001t0001g0083others(5): Show | 8 | HG01070.hp2 HG02132.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.536-13224delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127927937 | |||||
| chr5:127927937
|
CTT | C | 53 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(50): Show | 53 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.536-13225_536-1322 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127927937 | |||||
| chr5:127927937
|
CTTT | C | 14 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(11): Show | 14 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.536-13226_536-1322 others(7): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127927937 | |||||
| chr5:127927989
|
C | G | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(94): Show | 97 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(94): Show |
intron_variant | MODIFIER | c.536-13193C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127927989 | ||||||
| chr5:127928429
|
A | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0100others(7): Show | 10 | HG00639.hp2 HG01081.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.536-12753A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928429 | ||||||
| chr5:127928475
|
G | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0100others(7): Show | 10 | HG00639.hp2 HG01081.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.536-12707G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928475 | ||||||
| chr5:127928511
|
A | G | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-12671A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928511 | ||||||
| chr5:127928646
|
GC | G | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0202others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-12534delC | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127928646 | |||||
| chr5:127928767
|
A | G | 1 | a0001c0003t0001g0092 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.536-12415A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928767 | ||||||
| chr5:127928789
|
G | A | 27 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(24): Show | 27 | HG00323.hp1 HG00735.hp2 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.536-12393G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928789 | ||||||
| chr5:127928796
|
C | T | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-12386C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928796 | ||||||
| chr5:127928878
|
G | T | 1 | a0001c0001t0001g0078 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.536-12304G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928878 | ||||||
| chr5:127928906
|
C | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-12276C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928906 | ||||||
| chr5:127928924
|
G | A | 28 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(25): Show | 28 | HG00323.hp1 HG00735.hp2 HG01496.hp1 others(25): Show |
intron_variant | MODIFIER | c.536-12258G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928924 | ||||||
| chr5:127928925
|
C | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-12257C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928925 | ||||||
| chr5:127928971
|
T | C | 95 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(92): Show | 95 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.536-12211T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127928971 | ||||||
| chr5:127929017
|
A | G | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 82 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.536-12165A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127929017 | ||||||
| chr5:127929202
|
C | T | 115 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 115 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(112): Show |
intron_variant | MODIFIER | c.536-11980C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127929202 | ||||||
| chr5:127929444
|
C | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-11738C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127929444 | ||||||
| chr5:127929667
|
A | T | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-11515A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127929667 | ||||||
| chr5:127929849
|
C | T | 28 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(25): Show | 28 | HG00323.hp1 HG00735.hp2 HG01496.hp1 others(25): Show |
intron_variant | MODIFIER | c.536-11333C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127929849 | ||||||
| chr5:127930222
|
CTAAACTA others(3): Show |
C | 117 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(114): Show | 117 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.536-10950_536-1094 others(14): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127930222 | |||||
| chr5:127930232
|
G | GTAAAC | 4 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0202others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-10930_536-1092 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127930232 | |||||
| chr5:127930232
|
GTAAAC | G | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 82 | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.536-10930_536-1092 others(9): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127930232 | |||||
| chr5:127930237
|
C | G | 117 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(114): Show | 117 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.536-10945C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127930237 | ||||||
| chr5:127930323
|
T | C | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-10859T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127930323 | ||||||
| chr5:127930469
|
C | T | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.536-10713C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127930469 | ||||||
| chr5:127930663
|
T | A | 1 | a0001c0001t0001g0087 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.536-10519T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127930663 | ||||||
| chr5:127930933
|
C | T | 1 | a0001c0001t0001g0197 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.536-10249C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127930933 | ||||||
| chr5:127931033
|
A | G | 54 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(51): Show | 54 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.536-10149A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931033 | ||||||
| chr5:127931221
|
C | A | 10 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0050others(7): Show | 10 | HG02132.hp2 NA18945.hp1 NA18963.hp1 others(7): Show |
intron_variant | MODIFIER | c.536-9961C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931221 | ||||||
| chr5:127931226
|
G | A | 18 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(15): Show | 18 | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
intron_variant | MODIFIER | c.536-9956G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931226 | ||||||
| chr5:127931497
|
C | T | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.536-9685C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931497 | ||||||
| chr5:127931627
|
C | T | 30 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 30 | HG00323.hp1 HG00735.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.536-9555C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931627 | ||||||
| chr5:127931723
|
T | A | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.536-9459T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931723 | ||||||
| chr5:127931790
|
A | G | 94 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(91): Show | 94 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(91): Show |
intron_variant | MODIFIER | c.536-9392A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931790 | ||||||
| chr5:127931804
|
T | C | 1 | a0001c0001t0001g0178 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.536-9378T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931804 | ||||||
| chr5:127931818
|
A | T | 6 | a0001c0001t0001g0155a0001c0001t0001g0184a0001c0001t0001g0185others(3): Show | 6 | NA18970.hp1 NA18975.hp2 NA18977.hp2 others(3): Show |
intron_variant | MODIFIER | c.536-9364A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931818 | ||||||
| chr5:127931904
|
C | G | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG02683.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.536-9278C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931904 | ||||||
| chr5:127931917
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.536-9265C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931917 | ||||||
| chr5:127931934
|
G | A | 1 | a0001c0001t0001g0224 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.536-9248G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931934 | ||||||
| chr5:127931948
|
G | A | 2 | a0001c0001t0001g0155a0001c0001t0001g0218 | 2 | NA18977.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.536-9234G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127931948 | ||||||
| chr5:127932016
|
T | C | 116 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(113): Show | 116 | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(113): Show |
intron_variant | MODIFIER | c.536-9166T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932016 | ||||||
| chr5:127932110
|
T | C | 199 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(196): Show | 199 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(196): Show |
intron_variant | MODIFIER | c.536-9072T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932110 | ||||||
| chr5:127932111
|
G | T | 1 | a0001c0001t0001g0061 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.536-9071G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932111 | ||||||
| chr5:127932153
|
C | CA | 17 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0026others(14): Show | 17 | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.536-9012dupA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127932153 | |||||
| chr5:127932153
|
C | CAA | 40 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(37): Show | 40 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(37): Show |
intron_variant | MODIFIER | c.536-9013_536-9012d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127932153 | |||||
| chr5:127932200
|
A | G | 55 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(52): Show | 55 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(52): Show |
intron_variant | MODIFIER | c.536-8982A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932200 | ||||||
| chr5:127932267
|
C | T | 27 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(24): Show | 27 | HG00323.hp1 HG00735.hp2 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.536-8915C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932267 | ||||||
| chr5:127932283
|
C | T | 40 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(37): Show | 40 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(37): Show |
intron_variant | MODIFIER | c.536-8899C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932283 | ||||||
| chr5:127932311
|
A | T | 199 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(196): Show | 199 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(196): Show |
intron_variant | MODIFIER | c.536-8871A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932311 | ||||||
| chr5:127932506
|
C | T | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.536-8676C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932506 | ||||||
| chr5:127932621
|
C | T | 41 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0063others(38): Show | 41 | HG00408.hp2 HG00597.hp2 HG01169.hp2 others(38): Show |
intron_variant | MODIFIER | c.536-8561C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932621 | ||||||
| chr5:127932626
|
T | C | 2 | a0001c0002t0001g0044a0001c0002t0001g0069 | 2 | HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.536-8556T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932626 | ||||||
| chr5:127932824
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.536-8358A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127932824 | ||||||
| chr5:127933031
|
G | A | 2 | a0001c0001t0001g0143a0003c0004t0001g0089 | 2 | HG01243.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.536-8151G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933031 | ||||||
| chr5:127933224
|
G | T | 2 | a0001c0001t0001g0146a0002c0005t0001g0106 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.536-7958G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933224 | ||||||
| chr5:127933317
|
A | G | 45 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0041others(42): Show | 45 | HG00408.hp2 HG00597.hp2 HG01169.hp2 others(42): Show |
intron_variant | MODIFIER | c.536-7865A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933317 | ||||||
| chr5:127933366
|
G | A | 184 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(181): Show | 184 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(181): Show |
intron_variant | MODIFIER | c.536-7816G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933366 | ||||||
| chr5:127933610
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0080a0001c0001t0001g0166 | 3 | HG01256.hp2 HG01258.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.536-7572T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933610 | ||||||
| chr5:127933872
|
T | C | 1 | a0001c0001t0001g0025 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.536-7310T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933872 | ||||||
| chr5:127933873
|
G | A | 1 | a0001c0001t0001g0223 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.536-7309G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933873 | ||||||
| chr5:127933920
|
T | C | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-7262T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127933920 | ||||||
| chr5:127934057
|
A | G | 4 | a0001c0001t0001g0146a0001c0001t0001g0202a0001c0002t0001g0086others(1): Show | 4 | HG02895.hp1 HG02965.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-7125A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127934057 | ||||||
| chr5:127934189
|
TC | T | 99 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(96): Show | 99 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.536-6990delC | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127934189 | |||||
| chr5:127934468
|
T | G | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.536-6714T>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127934468 | ||||||
| chr5:127934645
|
A | G | 168 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(165): Show |
intron_variant | MODIFIER | c.536-6537A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127934645 | ||||||
| chr5:127934944
|
A | G | 2 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | HG02895.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.536-6238A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127934944 | ||||||
| chr5:127935012
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG00735.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.536-6170C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935012 | ||||||
| chr5:127935154
|
G | A | 1 | a0001c0001t0001g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.536-6028G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935154 | ||||||
| chr5:127935317
|
C | G | 3 | a0001c0001t0001g0087a0001c0001t0001g0103a0001c0002t0001g0037 | 3 | HG03209.hp2 HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.536-5865C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935317 | ||||||
| chr5:127935465
|
A | C | 11 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(8): Show | 11 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.536-5717A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935465 | ||||||
| chr5:127935712
|
A | G | 168 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(165): Show |
intron_variant | MODIFIER | c.536-5470A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935712 | ||||||
| chr5:127935837
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.536-5345G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935837 | ||||||
| chr5:127935927
|
A | T | 7 | a0001c0001t0001g0043a0001c0001t0001g0053a0001c0001t0001g0061others(4): Show | 7 | NA18945.hp1 NA18963.hp1 NA18975.hp1 others(4): Show |
intron_variant | MODIFIER | c.536-5255A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127935927 | ||||||
| chr5:127936029
|
G | A | 2 | a0001c0001t0001g0181a0001c0001t0001g0182 | 2 | HG02055.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.536-5153G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936029 | ||||||
| chr5:127936100
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.536-5082G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936100 | ||||||
| chr5:127936162
|
A | G | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-5020A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936162 | ||||||
| chr5:127936439
|
G | A | 1 | a0001c0001t0001g0012 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.536-4743G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936439 | ||||||
| chr5:127936516
|
T | C | 1 | a0001c0001t0001g0231 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.536-4666T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936516 | ||||||
| chr5:127936592
|
GA | G | 169 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(166): Show | 169 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(166): Show |
intron_variant | MODIFIER | c.536-4586delA | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127936592 | |||||
| chr5:127936791
|
C | T | 168 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(165): Show |
intron_variant | MODIFIER | c.536-4391C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936791 | ||||||
| chr5:127936795
|
G | C | 4 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(1): Show | 4 | HG01167.hp1 HG02148.hp1 HG02300.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-4387G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936795 | ||||||
| chr5:127936848
|
G | A | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.536-4334G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936848 | ||||||
| chr5:127936888
|
A | T | 5 | a0001c0001t0001g0030a0001c0001t0001g0099a0001c0001t0001g0230others(2): Show | 5 | HG02257.hp1 HG02818.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.536-4294A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936888 | ||||||
| chr5:127936951
|
G | A | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-4231G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936951 | ||||||
| chr5:127936956
|
A | G | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-4226A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127936956 | ||||||
| chr5:127937228
|
A | G | 1 | a0001c0001t0001g0126 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.536-3954A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127937228 | ||||||
| chr5:127937263
|
A | T | 1 | a0001c0001t0001g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.536-3919A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127937263 | ||||||
| chr5:127937466
|
A | G | 2 | a0001c0001t0001g0143a0003c0004t0001g0089 | 2 | HG01243.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.536-3716A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127937466 | ||||||
| chr5:127937597
|
G | C | 167 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(164): Show | 167 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(164): Show |
intron_variant | MODIFIER | c.536-3585G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127937597 | ||||||
| chr5:127937718
|
C | T | 1 | a0001c0001t0001g0078 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.536-3464C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127937718 | ||||||
| chr5:127938024
|
C | T | 2 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | NA19000.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.536-3158C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938024 | ||||||
| chr5:127938121
|
G | C | 14 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0026others(11): Show | 14 | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.536-3061G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938121 | ||||||
| chr5:127938271
|
G | A | 24 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0042others(21): Show | 24 | HG00735.hp2 HG01255.hp1 HG01496.hp1 others(21): Show |
intron_variant | MODIFIER | c.536-2911G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938271 | ||||||
| chr5:127938755
|
T | C | 186 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(183): Show | 186 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.536-2427T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938755 | ||||||
| chr5:127938861
|
G | C | 1 | a0001c0002t0001g0070 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.536-2321G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938861 | ||||||
| chr5:127938947
|
G | C | 11 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(8): Show | 11 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.536-2235G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938947 | ||||||
| chr5:127938949
|
T | C | 11 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(8): Show | 11 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.536-2233T>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127938949 | ||||||
| chr5:127939110
|
C | CT | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 101 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.536-2047dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939110 | |||||
| chr5:127939110
|
C | CTT | 36 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0021others(33): Show | 36 | HG00438.hp2 HG00642.hp1 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.536-2048_536-2047d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939110 | |||||
| chr5:127939110
|
CT | C | 41 | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0041others(38): Show | 41 | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.536-2047delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939110 | |||||
| chr5:127939110
|
CTTTTTTT others(6): Show |
C | 11 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(8): Show | 11 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.536-2059_536-2047d others(15): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939110 | |||||
| chr5:127939227
|
C | T | 4 | a0001c0001t0001g0143a0001c0001t0001g0231a0001c0002t0001g0084others(1): Show | 4 | HG01243.hp1 HG01884.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-1955C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939227 | ||||||
| chr5:127939267
|
A | C | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.536-1915A>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939267 | ||||||
| chr5:127939268
|
C | T | 1 | a0001c0002t0001g0084 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.536-1914C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939268 | ||||||
| chr5:127939452
|
T | A | 1 | a0001c0001t0001g0151 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.536-1730T>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939452 | ||||||
| chr5:127939531
|
G | A | 1 | a0001c0001t0001g0230 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.536-1651G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939531 | ||||||
| chr5:127939673
|
C | T | 1 | a0001c0001t0001g0054 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.536-1509C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939673 | ||||||
| chr5:127939687
|
G | GT | 10 | a0001c0001t0001g0040a0001c0001t0001g0059a0001c0001t0001g0077others(7): Show | 10 | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(7): Show |
intron_variant | MODIFIER | c.536-1480dupT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939687 | |||||
| chr5:127939687
|
GT | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0099others(12): Show | 15 | HG00639.hp2 HG01081.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.536-1480delT | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939687 | |||||
| chr5:127939687
|
GTT | G | 12 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0102others(9): Show | 12 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.536-1481_536-1480d others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939687 | |||||
| chr5:127939687
|
GTTT | G | 141 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(138): Show | 141 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(138): Show |
intron_variant | MODIFIER | c.536-1482_536-1480d others(5): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127939687 | |||||
| chr5:127939708
|
C | T | 1 | a0001c0001t0001g0190 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.536-1474C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939708 | ||||||
| chr5:127939711
|
G | A | 4 | a0001c0001t0001g0146a0001c0001t0001g0202a0001c0002t0001g0086others(1): Show | 4 | HG02895.hp1 HG02965.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-1471G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939711 | ||||||
| chr5:127939905
|
A | T | 1 | a0001c0001t0001g0171 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.536-1277A>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939905 | ||||||
| chr5:127939921
|
A | G | 1 | a0001c0001t0001g0231 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.536-1261A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127939921 | ||||||
| chr5:127940168
|
G | T | 159 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(156): Show | 159 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.536-1014G>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940168 | ||||||
| chr5:127940440
|
GTTAT | G | 160 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(157): Show | 160 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.536-717_536-714del others(4): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | 127940440 | |||||
| chr5:127940481
|
G | A | 143 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(140): Show | 143 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.536-701G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940481 | ||||||
| chr5:127940489
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.536-693G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940489 | ||||||
| chr5:127940545
|
G | C | 1 | a0001c0002t0001g0086 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.536-637G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940545 | ||||||
| chr5:127940550
|
C | T | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.536-632C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940550 | ||||||
| chr5:127940606
|
C | A | 1 | a0001c0001t0001g0109 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.536-576C>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940606 | ||||||
| chr5:127940606
|
C | T | 16 | a0001c0001t0001g0030a0001c0001t0001g0095a0001c0001t0001g0099others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.536-576C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940606 | ||||||
| chr5:127940706
|
C | T | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.536-476C>T | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940706 | ||||||
| chr5:127940899
|
G | C | 4 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0139others(1): Show | 4 | HG02683.hp1 HG03491.hp1 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.536-283G>C | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940899 | ||||||
| chr5:127940916
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.536-266A>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127940916 | ||||||
| chr5:127941070
|
C | G | 12 | a0001c0001t0001g0087a0001c0001t0001g0098a0001c0001t0001g0100others(9): Show | 12 | HG00639.hp2 HG01081.hp2 HG02922.hp2 others(9): Show |
intron_variant | MODIFIER | c.536-112C>G | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127941070 | ||||||
| chr5:127941090
|
G | A | 1 | a0001c0003t0001g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.536-92G>A | CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | chr5 | 127941090 |