Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 101060211 |
|---|---|
| ensemblid | ENSG00000273696.5 |
| hgncid | 51260 |
| symbol | CT45A7 |
| name | cancer/testis antigen family 45 member A7 |
| refseq_nuc | NM_001394668.1 |
| refseq_prot | NP_001381597.1 |
| ensembl_nuc | ENST00000610598.5 |
| ensembl_prot | ENSP00000482241.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135829229 |
| end | 135837280 |
| strand | - |
| ver | v1.2 |
| region | chrX:135829229-135837280 |
| region5000 | chrX:135824229-135842280 |
| regionname0 | CT45A7_chrX_135829229_135837280 |
| regionname5000 | CT45A7_chrX_135824229_135842280 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 189 | 12 | 0 | 4 | 7 | 1 | 0 | 6 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0002 | 0/0 | 189 | 3 | 1 | 1 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0003 | 0/0 | 189 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0004 | 0/0 | 58 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0005 | 0/0 | 73 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 570 | 12 | 0 | 4 | 7 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| c0002 | 0/0 | 570 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| c0003 | 0/0 | 570 | 2 | 0 | 1 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| c0004 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| c0005 | 0/0 | 572 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 457 | 10 | 1 | 2 | 7 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| t0002 | 0/0 | 457 | 6 | 0 | 2 | 3 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| t0003 | 0/0 | 458 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| t0004 | 0/0 | 456 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| t0005 | 0/0 | 459 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 570 | 12 | 0 | 4 | 7 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0002c0002 | 0/0 | 570 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0003c0003 | 0/0 | 570 | 2 | 0 | 1 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0004c0004 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0005c0005 | 0/0 | 572 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1026 | 7 | 0 | 1 | 6 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0001c0001t0002 | 0/0 | 1026 | 4 | 0 | 2 | 1 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0001c0001t0003 | 0/0 | 1027 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0002c0002t0001 | 0/0 | 1026 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0003c0003t0002 | 0/0 | 1026 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0003c0003t0004 | 0/0 | 1025 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0004c0004t0002 | 0/0 | 1027 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| a0005c0005t0005 | 0/0 | 1030 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | copy fasta | chrX | 135824229 | 135842280 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0001c0001t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0002c0002t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0002c0002t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0002c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0003c0003t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0003c0003t0004g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0004c0004t0002g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| a0005c0005t0005g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0014 | EUR | FIN | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG00544 | hp1 | a0002 | c0002 | t0001 | g0015 | EAS | CHS | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG00544 | hp2 | a0003 | c0003 | t0002 | g0016 | EAS | CHS | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0007 | AMR | PUR | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0010 | AMR | PUR | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01109 | hp1 | a0003 | c0003 | t0004 | g0002 | AMR | PUR | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01175 | hp1 | a0005 | c0005 | t0005 | g0019 | AMR | PUR | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01175 | hp2 | a0001 | c0001 | t0003 | g0001 | AMR | PUR | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | CLM | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG01261 | hp1 | a0002 | c0002 | t0001 | g0006 | AMR | CLM | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| HG03139 | hp1 | a0002 | c0002 | t0001 | g0005 | AFR | ESN | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | CHB | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0009 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA18985 | hp1 | a0004 | c0004 | t0002 | g0018 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT45A7_chrX_135824229_135842280 | CT45A7 | chrX | 135824229 | 135842280 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135829471
|
T | TG | 1 | a0005 | 1 | HG01175.hp1 | frameshift_variant | HIGH | c.538dupC | p.His180fs | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 5/5 | 783/1026 | 538/570 | 180/189 | chrX | 135829471 | ||
| chrX:135830747
|
C | CA | 1 | a0004 | 1 | NA18985.hp1 | frameshift_variant | HIGH | c.486dupT | p.Glu163fs | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/5 | 731/1026 | 486/570 | 162/189 | chrX | 135830747 | ||
| chrX:135831256
|
C | T | 4 | a0001a0002a0004others(1): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
missense_variant | MODERATE | c.359G>A | p.Arg120Gln | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/5 | 604/1026 | 359/570 | 120/189 | chrX | 135831256 | ||
| chrX:135831280
|
G | GT | 1 | a0004 | 1 | NA18985.hp1 | frameshift_variant | HIGH | c.334dupA | p.Thr112fs | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/5 | 579/1026 | 334/570 | 112/189 | chrX | 135831280 | ||
| chrX:135831368
|
C | T | 5 | a0001a0002a0003others(2): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
missense_variant | MODERATE | c.247G>A | p.Gly83Arg | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/5 | 492/1026 | 247/570 | 83/189 | chrX | 135831368 | ||
| chrX:135831397
|
A | T | 1 | a0005 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.218T>A | p.Ile73Asn | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/5 | 463/1026 | 218/570 | 73/189 | chrX | 135831397 | ||
| chrX:135831428
|
C | CA | 1 | a0005 | 1 | HG01175.hp1 | frameshift_variant | HIGH | c.186dupT | p.Ala63fs | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/5 | 431/1026 | 186/570 | 62/189 | chrX | 135831428 | ||
| chrX:135833370
|
T | G | 3 | a0001a0004a0005 | 14 | HG00280.hp1 HG00738.hp1 HG01074.hp1 others(11): Show |
missense_variant | MODERATE | c.164A>C | p.Glu55Ala | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/5 | 409/1026 | 164/570 | 55/189 | chrX | 135833370 | ||
| chrX:135833476
|
TG | T | 1 | a0004 | 1 | NA18985.hp1 | frameshift_variant | HIGH | c.57delC | p.Arg20fs | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/5 | 302/1026 | 57/570 | 19/189 | chrX | 135833476 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135830757
|
C | T | 4 | a0001c0001a0002c0002a0004c0004others(1): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
synonymous_variant | LOW | c.477G>A | p.Lys159Lys | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/5 | 722/1026 | 477/570 | 159/189 | chrX | 135830757 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135829282
|
T | A | 1 | a0005c0005t0005 | 1 | HG01175.hp1 | 3_prime_UTR_variant | MODIFIER | c.*158A>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 5/5 | 158 | chrX | 135829282 | |||||
| chrX:135829393
|
C | T | 3 | a0001c0001t0001a0002c0002t0001a0005c0005t0005 | 11 | HG00544.hp1 HG01175.hp1 HG01255.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*47G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 5/5 | 47 | chrX | 135829393 | |||||
| chrX:135837061
|
C | CG | 1 | a0005c0005t0005 | 1 | HG01175.hp1 | 5_prime_UTR_variant | MODIFIER | c.-27dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/5 | 3529 | chrX | 135837061 | |||||
| chrX:135837094
|
G | GC | 1 | a0005c0005t0005 | 1 | HG01175.hp1 | 5_prime_UTR_variant | MODIFIER | c.-60dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/5 | 3562 | chrX | 135837094 | |||||
| chrX:135837132
|
TG | T | 1 | a0003c0003t0004 | 1 | HG01109.hp1 | 5_prime_UTR_variant | MODIFIER | c.-98delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/5 | 3600 | chrX | 135837132 | |||||
| chrX:135837223
|
A | AG | 1 | a0001c0001t0003 | 1 | HG01175.hp2 | 5_prime_UTR_variant | MODIFIER | c.-189dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/5 | 3691 | chrX | 135837223 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135829503
|
G | A | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
splice_region_variant&intron_variant | LOW | c.513-6C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829503 | ||||||
| chrX:135829540
|
G | GA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-44dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829540 | ||||||
| chrX:135829560
|
G | A | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.513-63C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829560 | ||||||
| chrX:135829567
|
C | T | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.513-70G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829567 | ||||||
| chrX:135829568
|
A | G | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.513-71T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829568 | ||||||
| chrX:135829631
|
T | TC | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.513-135dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829631 | ||||||
| chrX:135829679
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-182A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829679 | ||||||
| chrX:135829696
|
A | G | 3 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0015 | 3 | HG00544.hp1 HG01261.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.513-199T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829696 | ||||||
| chrX:135829700
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-203A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829700 | ||||||
| chrX:135829715
|
CAACT | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-222_513-219del others(4): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829715 | ||||||
| chrX:135829756
|
TA | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-260delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829756 | ||||||
| chrX:135829834
|
C | G | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-337G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829834 | ||||||
| chrX:135829856
|
TG | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-360delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829856 | ||||||
| chrX:135829857
|
G | C | 16 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(13): Show | 16 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-360C>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829857 | ||||||
| chrX:135829858
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-361A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829858 | ||||||
| chrX:135829863
|
G | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-366C>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829863 | ||||||
| chrX:135829870
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-373G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829870 | ||||||
| chrX:135829872
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-376dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829872 | ||||||
| chrX:135829913
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-417dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829913 | ||||||
| chrX:135829915
|
A | G | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-418T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829915 | ||||||
| chrX:135829950
|
A | AT | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-454_513-453ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829950 | ||||||
| chrX:135829951
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-454G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829951 | ||||||
| chrX:135829969
|
T | TA | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.513-473dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135829969 | ||||||
| chrX:135830140
|
GT | G | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+581delA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830140 | ||||||
| chrX:135830202
|
G | GT | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+519dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830202 | ||||||
| chrX:135830239
|
G | GC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+482dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830239 | ||||||
| chrX:135830242
|
A | C | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.512+480T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830242 | ||||||
| chrX:135830260
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+462G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830260 | ||||||
| chrX:135830280
|
AT | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+441delA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830280 | ||||||
| chrX:135830355
|
C | T | 2 | a0001c0001t0001g0011a0005c0005t0005g0019 | 2 | HG01175.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.512+367G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830355 | ||||||
| chrX:135830409
|
G | GC | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.512+312dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830409 | ||||||
| chrX:135830452
|
TA | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+269delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830452 | ||||||
| chrX:135830492
|
AG | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+229delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830492 | ||||||
| chrX:135830542
|
T | TTC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+178_512+179dup others(2): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830542 | ||||||
| chrX:135830551
|
TG | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.512+170delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830551 | ||||||
| chrX:135830558
|
C | G | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(11): Show | 14 | HG00544.hp1 HG01074.hp1 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.512+164G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | 135830558 | ||||||
| chrX:135830827
|
GAA | G | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0013others(11): Show | 14 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.419-14_419-13delTT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135830827 | ||||||
| chrX:135830827
|
GAAA | G | 3 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012 | 3 | HG01255.hp1 NA18747.hp1 NA18973.hp1 |
intron_variant | MODIFIER | c.419-15_419-13delTT others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135830827 | ||||||
| chrX:135830839
|
A | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.419-24T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135830839 | ||||||
| chrX:135830840
|
C | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.419-25G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135830840 | ||||||
| chrX:135831030
|
GA | G | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.418+166delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831030 | ||||||
| chrX:135831043
|
T | TG | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.418+153dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831043 | ||||||
| chrX:135831056
|
G | GA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.418+140dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831056 | ||||||
| chrX:135831145
|
GA | G | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.418+51delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831145 | ||||||
| chrX:135831189
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
splice_region_variant&intron_variant | LOW | c.418+8A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831189 | ||||||
| chrX:135831195
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | splice_donor_variant&intron_variant | HIGH | c.418+1dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | 135831195 | ||||||
| chrX:135831473
|
C | CATCAGTT | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.170-35_170-29dupAA others(5): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831473 | ||||||
| chrX:135831552
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-107G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831552 | ||||||
| chrX:135831555
|
A | C | 5 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017others(2): Show | 5 | HG01261.hp1 HG03139.hp1 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-110T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831555 | ||||||
| chrX:135831890
|
C | T | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-445G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831890 | ||||||
| chrX:135831897
|
G | A | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-452C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831897 | ||||||
| chrX:135831906
|
C | G | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-461G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831906 | ||||||
| chrX:135831911
|
G | A | 18 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(15): Show | 18 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(15): Show |
intron_variant | MODIFIER | c.170-466C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831911 | ||||||
| chrX:135831911
|
G | GA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-467_170-466ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831911 | ||||||
| chrX:135831917
|
G | T | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-472C>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831917 | ||||||
| chrX:135831921
|
T | C | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-476A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831921 | ||||||
| chrX:135831925
|
A | C | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-480T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831925 | ||||||
| chrX:135831933
|
G | A | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-488C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831933 | ||||||
| chrX:135831935
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-490A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831935 | ||||||
| chrX:135831941
|
G | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-496C>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831941 | ||||||
| chrX:135831942
|
T | TC | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-498_170-497ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831942 | ||||||
| chrX:135831945
|
T | C | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-500A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831945 | ||||||
| chrX:135831954
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-509G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831954 | ||||||
| chrX:135831973
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-528G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831973 | ||||||
| chrX:135831977
|
C | A | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.170-532G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831977 | ||||||
| chrX:135831987
|
A | G | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-542T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135831987 | ||||||
| chrX:135832001
|
C | T | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-556G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832001 | ||||||
| chrX:135832006
|
C | CCCT | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-562_170-561ins others(3): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832006 | ||||||
| chrX:135832007
|
A | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-562T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832007 | ||||||
| chrX:135832008
|
C | T | 16 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(13): Show | 16 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.170-563G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832008 | ||||||
| chrX:135832009
|
C | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-564G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832009 | ||||||
| chrX:135832011
|
C | A | 16 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(13): Show | 16 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.170-566G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832011 | ||||||
| chrX:135832012
|
C | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-567G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832012 | ||||||
| chrX:135832018
|
G | A | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-573C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832018 | ||||||
| chrX:135832028
|
C | G | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-583G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832028 | ||||||
| chrX:135832045
|
TC | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-601delG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832045 | ||||||
| chrX:135832057
|
T | G | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.170-612A>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832057 | ||||||
| chrX:135832130
|
G | A | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.170-685C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832130 | ||||||
| chrX:135832132
|
GC | G | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.170-688delG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832132 | ||||||
| chrX:135832143
|
G | GT | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.170-699_170-698ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832143 | ||||||
| chrX:135832173
|
C | CA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.170-729_170-728ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832173 | ||||||
| chrX:135832174
|
G | GT | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.170-730dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832174 | ||||||
| chrX:135832285
|
C | CG | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.170-841_170-840ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832285 | ||||||
| chrX:135832415
|
C | T | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+950G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832415 | ||||||
| chrX:135832456
|
T | TG | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+908dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832456 | ||||||
| chrX:135832469
|
A | AC | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.169+895_169+896ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832469 | ||||||
| chrX:135832470
|
T | C | 18 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(15): Show | 18 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(15): Show |
intron_variant | MODIFIER | c.169+895A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832470 | ||||||
| chrX:135832470
|
T | G | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.169+895A>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832470 | ||||||
| chrX:135832486
|
A | AG | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.169+878dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832486 | ||||||
| chrX:135832526
|
A | AG | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+838dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832526 | ||||||
| chrX:135832581
|
CG | C | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+783delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832581 | ||||||
| chrX:135832696
|
CG | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+668delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832696 | ||||||
| chrX:135832715
|
TG | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+649delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832715 | ||||||
| chrX:135832722
|
A | T | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.169+643T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832722 | ||||||
| chrX:135832918
|
A | AG | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.169+446dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832918 | ||||||
| chrX:135832943
|
G | GA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+421_169+422ins others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832943 | ||||||
| chrX:135832952
|
G | GC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+412dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832952 | ||||||
| chrX:135832970
|
T | TA | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+394dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832970 | ||||||
| chrX:135832978
|
CA | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+386delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832978 | ||||||
| chrX:135832998
|
T | TG | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.169+366dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135832998 | ||||||
| chrX:135833007
|
C | G | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.169+358G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833007 | ||||||
| chrX:135833024
|
CG | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+340delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833024 | ||||||
| chrX:135833124
|
C | G | 4 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017others(1): Show | 4 | HG00544.hp1 NA18945.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.169+241G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833124 | ||||||
| chrX:135833174
|
T | TAAA | 2 | a0001c0001t0001g0004a0001c0001t0001g0017 | 2 | NA18945.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.169+188_169+190dup others(3): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833174 | ||||||
| chrX:135833174
|
T | TAAAA | 1 | a0001c0001t0001g0003 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.169+187_169+190dup others(4): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833174 | ||||||
| chrX:135833174
|
TA | T | 5 | a0001c0001t0001g0008a0002c0002t0001g0005a0002c0002t0001g0006others(2): Show | 5 | HG00544.hp2 HG01109.hp1 HG01261.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+190delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833174 | ||||||
| chrX:135833236
|
G | GA | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+128dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833236 | ||||||
| chrX:135833311
|
T | C | 3 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0015 | 3 | HG00544.hp1 HG01261.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.169+54A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833311 | ||||||
| chrX:135833328
|
AG | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.169+36delC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833328 | ||||||
| chrX:135833337
|
A | AG | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+27dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833337 | ||||||
| chrX:135833353
|
A | T | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.169+12T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833353 | ||||||
| chrX:135833354
|
G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017 | 3 | NA18945.hp1 NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.169+11C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 2/4 | chrX | 135833354 | ||||||
| chrX:135833580
|
T | TC | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-42dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833580 | ||||||
| chrX:135833650
|
C | CT | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-112dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833650 | ||||||
| chrX:135833693
|
C | G | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-6-154G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833693 | ||||||
| chrX:135833695
|
GT | G | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-157delA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833695 | ||||||
| chrX:135833759
|
CA | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-221delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833759 | ||||||
| chrX:135833802
|
CA | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-264delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833802 | ||||||
| chrX:135833822
|
AT | A | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-284delA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833822 | ||||||
| chrX:135833869
|
GA | G | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-331delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833869 | ||||||
| chrX:135833912
|
A | G | 4 | a0001c0001t0001g0003a0002c0002t0001g0005a0002c0002t0001g0006others(1): Show | 4 | HG00544.hp1 HG01261.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.-6-373T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833912 | ||||||
| chrX:135833991
|
C | T | 4 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0003g0001others(1): Show | 4 | HG01074.hp1 HG01175.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6-452G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135833991 | ||||||
| chrX:135834068
|
A | AG | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-530dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834068 | ||||||
| chrX:135834070
|
GA | G | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-532delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834070 | ||||||
| chrX:135834099
|
C | CA | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-561dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834099 | ||||||
| chrX:135834104
|
C | CA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-566dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834104 | ||||||
| chrX:135834124
|
AC | A | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-586delG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834124 | ||||||
| chrX:135834140
|
C | CA | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-6-602dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834140 | ||||||
| chrX:135834152
|
A | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-613T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834152 | ||||||
| chrX:135834163
|
G | GC | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-625dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834163 | ||||||
| chrX:135834168
|
TA | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-630delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834168 | ||||||
| chrX:135834188
|
A | G | 3 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0015 | 3 | HG00544.hp1 HG01261.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-6-649T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834188 | ||||||
| chrX:135834241
|
T | TA | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-703dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834241 | ||||||
| chrX:135834255
|
C | CG | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-717dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834255 | ||||||
| chrX:135834277
|
T | TAAC | 5 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0002g0010others(2): Show | 5 | HG01074.hp1 HG01175.hp2 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-741_-6-739dupGT others(1): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834277 | ||||||
| chrX:135834277
|
T | TAACAAC | 1 | a0001c0001t0002g0009 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-6-744_-6-739dupGT others(4): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834277 | ||||||
| chrX:135834371
|
C | A | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.-6-832G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834371 | ||||||
| chrX:135834377
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-839dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834377 | ||||||
| chrX:135834439
|
A | AT | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-901dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834439 | ||||||
| chrX:135834487
|
A | C | 10 | a0001c0001t0001g0003a0001c0001t0002g0009a0001c0001t0002g0010others(7): Show | 10 | HG00544.hp1 HG00544.hp2 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.-6-948T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834487 | ||||||
| chrX:135834509
|
T | TC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-971dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834509 | ||||||
| chrX:135834520
|
AT | A | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-982delA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834520 | ||||||
| chrX:135834533
|
TC | T | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-995delG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834533 | ||||||
| chrX:135834535
|
C | T | 18 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(15): Show | 18 | HG00280.hp1 HG00544.hp2 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-6-996G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834535 | ||||||
| chrX:135834536
|
A | T | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-997T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834536 | ||||||
| chrX:135834564
|
A | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1025T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834564 | ||||||
| chrX:135834589
|
T | G | 7 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(4): Show | 7 | HG00280.hp1 HG00738.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.-6-1050A>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834589 | ||||||
| chrX:135834590
|
A | C | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1051T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834590 | ||||||
| chrX:135834682
|
TTACTAG | T | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-1149_-6-1144del others(6): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834682 | ||||||
| chrX:135834765
|
A | AT | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1227dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834765 | ||||||
| chrX:135834834
|
T | C | 12 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(9): Show | 12 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.-6-1295A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834834 | ||||||
| chrX:135834933
|
T | A | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.-6-1394A>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834933 | ||||||
| chrX:135834937
|
T | C | 11 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(8): Show | 11 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-1398A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834937 | ||||||
| chrX:135834939
|
T | G | 11 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(8): Show | 11 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-1400A>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834939 | ||||||
| chrX:135834956
|
A | AT | 2 | a0001c0001t0001g0004a0001c0001t0001g0017 | 2 | NA18945.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.-6-1418dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834956 | ||||||
| chrX:135834956
|
ATT | A | 4 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0003g0001others(1): Show | 4 | HG01074.hp1 HG01175.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6-1419_-6-1418del others(2): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834956 | ||||||
| chrX:135834957
|
T | TTAC | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-6-1419_-6-1418ins others(3): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834957 | ||||||
| chrX:135834958
|
T | TAC | 12 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(9): Show | 12 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.-6-1420_-6-1419ins others(2): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834958 | ||||||
| chrX:135834971
|
T | C | 1 | a0001c0001t0001g0003 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-1432A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834971 | ||||||
| chrX:135834975
|
A | G | 13 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(10): Show | 13 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(10): Show |
intron_variant | MODIFIER | c.-6-1436T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135834975 | ||||||
| chrX:135835045
|
TC | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1507delG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835045 | ||||||
| chrX:135835110
|
G | C | 1 | a0001c0001t0002g0010 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-6-1571C>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835110 | ||||||
| chrX:135835165
|
A | C | 11 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-1626T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835165 | ||||||
| chrX:135835229
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1691dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835229 | ||||||
| chrX:135835231
|
C | CA | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-6-1693dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835231 | ||||||
| chrX:135835287
|
G | A | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-6-1748C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835287 | ||||||
| chrX:135835288
|
C | CG | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-6-1750dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835288 | ||||||
| chrX:135835482
|
GA | G | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-7+1559delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835482 | ||||||
| chrX:135835492
|
G | A | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-7+1550C>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835492 | ||||||
| chrX:135835567
|
T | TA | 1 | a0002c0002t0001g0015 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-7+1474dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835567 | ||||||
| chrX:135835677
|
T | C | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-7+1365A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835677 | ||||||
| chrX:135835730
|
A | C | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-7+1312T>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835730 | ||||||
| chrX:135835740
|
TA | T | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+1301delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835740 | ||||||
| chrX:135835838
|
TA | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(5): Show | 8 | HG01074.hp1 HG01175.hp2 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.-7+1203delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835838 | ||||||
| chrX:135835839
|
A | T | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-7+1203T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835839 | ||||||
| chrX:135835840
|
A | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017 | 3 | NA18945.hp1 NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-7+1202T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835840 | ||||||
| chrX:135835975
|
A | AT | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-7+1066dupA | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835975 | ||||||
| chrX:135835993
|
GA | G | 1 | a0002c0002t0001g0005 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+1048delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135835993 | ||||||
| chrX:135836011
|
C | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(6): Show | 9 | HG00544.hp2 HG01074.hp1 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.-7+1031G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836011 | ||||||
| chrX:135836069
|
C | A | 1 | a0003c0003t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-7+973G>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836069 | ||||||
| chrX:135836083
|
T | TG | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+958dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836083 | ||||||
| chrX:135836096
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+945dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836096 | ||||||
| chrX:135836199
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+842dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836199 | ||||||
| chrX:135836202
|
A | T | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-7+840T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836202 | ||||||
| chrX:135836323
|
A | AC | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-7+718dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836323 | ||||||
| chrX:135836329
|
C | T | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.-7+713G>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836329 | ||||||
| chrX:135836395
|
G | GCATC | 2 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | HG00544.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.-7+643_-7+646dupGA others(2): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836395 | ||||||
| chrX:135836451
|
T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017 | 3 | NA18945.hp1 NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-7+591A>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836451 | ||||||
| chrX:135836460
|
G | C | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-7+582C>G | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836460 | ||||||
| chrX:135836463
|
C | CG | 1 | a0003c0003t0004g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-7+578dupC | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836463 | ||||||
| chrX:135836506
|
TACCCA | T | 1 | a0001c0001t0003g0001 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-7+531_-7+535delTG others(3): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836506 | ||||||
| chrX:135836584
|
G | GC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+457dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836584 | ||||||
| chrX:135836599
|
C | CA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+442_-7+443insT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836599 | ||||||
| chrX:135836615
|
C | CA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+426dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836615 | ||||||
| chrX:135836619
|
T | TA | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+422dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836619 | ||||||
| chrX:135836624
|
A | T | 17 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(14): Show | 17 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(14): Show |
intron_variant | MODIFIER | c.-7+418T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836624 | ||||||
| chrX:135836682
|
A | AC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+359dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836682 | ||||||
| chrX:135836719
|
A | AC | 1 | a0001c0001t0002g0007 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-7+322dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836719 | ||||||
| chrX:135836786
|
C | G | 19 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(16): Show | 19 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(16): Show |
intron_variant | MODIFIER | c.-7+256G>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836786 | ||||||
| chrX:135836853
|
T | TC | 2 | a0003c0003t0004g0002a0004c0004t0002g0018 | 2 | HG01109.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.-7+188dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836853 | ||||||
| chrX:135836865
|
G | GA | 1 | a0004c0004t0002g0018 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-7+176dupT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836865 | ||||||
| chrX:135836866
|
A | G | 4 | a0001c0001t0001g0003a0001c0001t0001g0004a0002c0002t0001g0005others(1): Show | 4 | HG01261.hp1 HG03139.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.-7+176T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836866 | ||||||
| chrX:135836917
|
G | GC | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+124dupG | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836917 | ||||||
| chrX:135836963
|
T | A | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+79A>T | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836963 | ||||||
| chrX:135836968
|
A | T | 2 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-7+74T>A | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836968 | ||||||
| chrX:135836969
|
A | G | 2 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-7+73T>C | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135836969 | ||||||
| chrX:135837007
|
GA | G | 1 | a0005c0005t0005g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-7+34delT | CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1/4 | chrX | 135837007 |