Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 541466 |
| ensemblid | ENSG00000268940.6 |
| hgncid | 33267 |
| symbol | CT45A1 |
| name | cancer/testis antigen family 45 member A1 |
| refseq_nuc | NM_001017417.3 |
| refseq_prot | NP_001017417.1 |
| ensembl_nuc | ENST00000594565.6 |
| ensembl_prot | ENSP00000472303.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135713639 |
| end | 135723228 |
| strand | + |
| ver | v1.2 |
| region | chrX:135713639-135723228 |
| region5000 | chrX:135708639-135728228 |
| regionname0 | CT45A1_chrX_135713639_135723228 |
| regionname5000 | CT45A1_chrX_135708639_135728228 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 189 | 38 | 4 | 8 | 24 | 1 | 1 | 20 | CT45A1_chrX_135708639_135728228 | CT45A1 | MTDKT others(184): Show |
chrX | 135708639 | 135728228 |
| a0002 | 1/0 | 189 | 18 | 7 | 1 | 8 | 0 | 1 | 5 | CT45A1_chrX_135708639_135728228 | CT45A1 | MTDKT others(184): Show |
chrX | 135708639 | 135728228 |
| a0003 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | MTDKT others(184): Show |
chrX | 135708639 | 135728228 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 567 | 38 | 4 | 8 | 24 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | ATGAC others(562): Show |
chrX | 135708639 | 135728228 | ||
| a0002c0002 | 1/0 | 567 | 18 | 7 | 1 | 8 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | ATGAC others(562): Show |
chrX | 135708639 | 135728228 | ||
| a0003c0003 | 0/0 | 567 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | ATGAC others(562): Show |
chrX | 135708639 | 135728228 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 823 | 34 | 1 | 8 | 23 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| a0001c0001t0002 | 0/0 | 823 | 3 | 3 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| a0001c0001t0003 | 0/0 | 823 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| a0002c0002t0001 | 1/0 | 823 | 2 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| a0002c0002t0002 | 0/0 | 823 | 16 | 6 | 1 | 8 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| a0003c0003t0001 | 0/0 | 823 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | GCCAC others(818): Show |
chrX | 135708639 | 135728228 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 9 | 0 | 5 | 3 | 1 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0002 | 0/0 | 7 | 0 | 0 | 7 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0002g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0003g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0001g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0003 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0003c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00621 | hp1 | a0002 | c0002 | t0002 | g0015 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | CLM | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01943 | hp1 | a0002 | c0002 | t0002 | g0025 | AMR | PEL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02056 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | KHV | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02132 | hp1 | a0002 | c0002 | t0002 | g0024 | EAS | KHV | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02257 | hp1 | a0002 | c0002 | t0002 | g0019 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0010 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02572 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02717 | hp1 | a0002 | c0002 | t0002 | g0006 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02818 | hp2 | a0002 | c0002 | t0002 | g0006 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03098 | hp1 | a0002 | c0002 | t0002 | g0016 | AFR | MSL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03130 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | ESN | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03688 | hp1 | a0002 | c0002 | t0002 | g0020 | SAS | STU | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | CHB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18940 | hp1 | a0002 | c0002 | t0002 | g0021 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18945 | hp1 | a0001 | c0001 | t0003 | g0008 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18948 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18966 | hp1 | a0002 | c0002 | t0002 | g0035 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19012 | hp1 | a0002 | c0002 | t0002 | g0022 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19081 | hp2 | a0003 | c0003 | t0001 | g0030 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19085 | hp1 | a0002 | c0002 | t0002 | g0023 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ASW | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ASW | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02486 | hp1 | a0002 | c0002 | t0001 | g0011 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0001 | g0012 | REF | REF | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| view | 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:135719104 | C | A | 2 | a0001 a0003 |
39 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(36): Show |
missense_variant | MODERATE | c.164C>A | p.Ala55Glu | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 222/823 | 164/570 | 55/189 | chrX | 135719104 | |||
| chrX:135719108 | G | C | 1 | a0003 | 1 | NA19081.hp2 | missense_variant&splice_region_variant | MODERATE | c.168G>C | p.Lys56Asn | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 226/823 | 168/570 | 56/189 | chrX | 135719108 |
| view | 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 |
|---|
| view | 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:135713670 | T | C | 2 | a0001c0001t0002 a0002c0002t0002 |
19 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-27T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/5 | 5271 | chrX | 135713670 | ||||||
| chrX:135713671 | G | A | 1 | a0001c0001t0003 | 1 | NA18945.hp1 | 5_prime_UTR_variant | MODIFIER | c.-26G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/5 | 5270 | chrX | 135713671 |
| view | 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:135713835 | C | T | 1 | a0001c0001t0001g0036 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-7+145C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135713835 | |||||||
| chrX:135713851 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-7+161G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135713851 | |||||||
| chrX:135714037 | G | A | 2 | a0001c0001t0002g0004 a0001c0001t0002g0010 |
3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-7+347G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714037 | |||||||
| chrX:135714061 | C | T | 1 | a0002c0002t0002g0035 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-7+371C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714061 | |||||||
| chrX:135714073 | C | G | 35 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.-7+383C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714073 | |||||||
| chrX:135714148 | G | A | 1 | a0001c0001t0001g0013 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-7+458G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714148 | |||||||
| chrX:135714463 | T | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0014 |
3 | NA18962.hp1 NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+773T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714463 | |||||||
| chrX:135714491 | G | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+801G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714491 | |||||||
| chrX:135714500 | T | G | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+810T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714500 | |||||||
| chrX:135714514 | A | G | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+824A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714514 | |||||||
| chrX:135714520 | C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+830C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714520 | |||||||
| chrX:135714521 | A | C | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+831A>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714521 | |||||||
| chrX:135714523 | C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+833C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714523 | |||||||
| chrX:135714528 | C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+838C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714528 | |||||||
| chrX:135715127 | G | A | 1 | a0002c0002t0002g0015 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-7+1437G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715127 | |||||||
| chrX:135715234 | T | TTATATAT others(10): Show |
19 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(16): Show |
34 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(31): Show |
intron_variant | MODIFIER | c.-7+1587_-7+1603dup others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715234 | ||||||
| chrX:135715265 | CTT | C | 2 | a0001c0001t0002g0004 a0001c0001t0002g0010 |
3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-7+1576_-7+1577del others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715265 | |||||||
| chrX:135715283 | T | TTATATAT others(10): Show |
1 | a0001c0001t0001g0005 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-7+1587_-7+1603dup others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715283 | ||||||
| chrX:135715335 | A | ATATATAT others(21): Show |
9 | a0001c0001t0002g0004 a0002c0002t0002g0003 a0002c0002t0002g0006 others(6): Show |
13 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(10): Show |
intron_variant | MODIFIER | c.-7+1662_-7+1663ins others(28): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715335 | ||||||
| chrX:135715335 | ATATATAT others(21): Show |
A | 1 | a0002c0002t0002g0019 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-7+1663_-7+1690del others(28): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715335 | ||||||
| chrX:135715353 | C | T | 34 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(31): Show |
54 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.-7+1663C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715353 | |||||||
| chrX:135715365 | A | ATATATAT others(6): Show |
2 | a0002c0002t0002g0016 a0002c0002t0002g0017 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-7+1697_-7+1709dup others(13): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715365 | ||||||
| chrX:135715406 | TTATATAT others(8): Show |
T | 1 | a0002c0002t0001g0011 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+1738_-7+1752del others(15): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715406 | ||||||
| chrX:135715419 | TTA | T | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1738_-7+1739del others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715419 | ||||||
| chrX:135715436 | A | ATAGG | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1748_-7+1749ins others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715436 | ||||||
| chrX:135715464 | A | ATAGG | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1776_-7+1777ins others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715464 | ||||||
| chrX:135715569 | ATATATAT others(23): Show |
A | 10 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-7+1897_-7+1926del others(30): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715569 | ||||||
| chrX:135715587 | G | T | 10 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show |
20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.-7+1897G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715587 | |||||||
| chrX:135715599 | T | TTA | 10 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show |
20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.-7+1916_-7+1917dup others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715599 | ||||||
| chrX:135715647 | T | C | 13 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0015 others(10): Show |
16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.-7+1957T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715647 | |||||||
| chrX:135716572 | C | T | 1 | a0002c0002t0002g0035 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-6-2363C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135716572 | |||||||
| chrX:135716816 | GAAGT | G | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-2115_-6-2112del others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135716816 | ||||||
| chrX:135716982 | A | T | 10 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-6-1953A>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135716982 | |||||||
| chrX:135717036 | G | A | 35 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.-6-1899G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717036 | |||||||
| chrX:135717202 | G | T | 2 | a0001c0001t0001g0009 a0001c0001t0001g0034 |
2 | HG00438.hp2 HG00673.hp1 |
intron_variant | MODIFIER | c.-6-1733G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717202 | |||||||
| chrX:135717442 | G | A | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1493G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717442 | |||||||
| chrX:135717472 | T | C | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1463T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717472 | |||||||
| chrX:135717548 | CA | C | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show |
36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1376delA | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135717548 | ||||||
| chrX:135718072 | C | G | 1 | a0001c0001t0001g0034 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-6-863C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718072 | |||||||
| chrX:135718147 | C | A | 10 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-6-788C>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718147 | |||||||
| chrX:135718352 | A | ATTTTTGG others(7): Show |
1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-580_-6-567dupTT others(12): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135718352 | ||||||
| chrX:135718437 | A | G | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-498A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718437 | |||||||
| chrX:135718443 | T | A | 1 | a0001c0001t0001g0026 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-6-492T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718443 | |||||||
| chrX:135718460 | G | C | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-475G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718460 | |||||||
| chrX:135718461 | A | G | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-474A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718461 | |||||||
| chrX:135718471 | A | G | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-464A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718471 | |||||||
| chrX:135718492 | T | C | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-443T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718492 | |||||||
| chrX:135718514 | ACATATTT others(5): Show |
A | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-420_-6-409delCA others(10): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718514 | |||||||
| chrX:135718527 | A | T | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-408A>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718527 | |||||||
| chrX:135718532 | A | G | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-403A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718532 | |||||||
| chrX:135718535 | G | A | 9 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
19 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(16): Show |
intron_variant | MODIFIER | c.-6-400G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718535 | |||||||
| chrX:135718547 | G | A | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-388G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718547 | |||||||
| chrX:135718563 | T | A | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-372T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718563 | |||||||
| chrX:135718567 | C | T | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-368C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718567 | |||||||
| chrX:135718595 | G | T | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-340G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718595 | |||||||
| chrX:135718597 | T | C | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-338T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718597 | |||||||
| chrX:135718604 | C | T | 1 | a0003c0003t0001g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-331C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718604 | |||||||
| chrX:135719284 | T | TC | 10 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.169+176dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719284 | ||||||
| chrX:135719285 | C | CT | 21 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(18): Show |
34 | HG00140.hp1 HG00621.hp1 HG00741.hp1 others(31): Show |
intron_variant | MODIFIER | c.169+188dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719285 | ||||||
| chrX:135719286 | T | C | 1 | a0001c0001t0001g0031 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.169+177T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719286 | |||||||
| chrX:135719348 | C | G | 19 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(16): Show |
35 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.169+239C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719348 | |||||||
| chrX:135719372 | G | C | 1 | a0002c0002t0002g0023 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.169+263G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719372 | |||||||
| chrX:135719465 | G | C | 3 | a0002c0002t0002g0006 a0002c0002t0002g0022 a0002c0002t0002g0024 |
4 | HG02132.hp1 HG02717.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+356G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719465 | |||||||
| chrX:135719650 | T | G | 10 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show |
20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.169+541T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719650 | |||||||
| chrX:135719672 | C | T | 23 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(20): Show |
40 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show |
intron_variant | MODIFIER | c.169+563C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719672 | |||||||
| chrX:135719703 | T | C | 2 | a0001c0001t0001g0007 a0003c0003t0001g0030 |
3 | HG00741.hp1 HG02735.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.169+594T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719703 | |||||||
| chrX:135719750 | T | A | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+641T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719750 | |||||||
| chrX:135719914 | T | C | 23 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(20): Show |
40 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show |
intron_variant | MODIFIER | c.169+805T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719914 | |||||||
| chrX:135720065 | C | T | 10 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.169+956C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720065 | |||||||
| chrX:135720095 | C | T | 3 | a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0022 |
4 | HG02717.hp1 HG02818.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-933C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720095 | |||||||
| chrX:135720285 | G | C | 24 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(21): Show |
41 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(38): Show |
intron_variant | MODIFIER | c.170-743G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720285 | |||||||
| chrX:135720444 | C | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-584C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720444 | |||||||
| chrX:135720454 | T | C | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-574T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720454 | |||||||
| chrX:135720461 | T | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-567T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720461 | |||||||
| chrX:135720464 | A | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-564A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720464 | |||||||
| chrX:135720471 | A | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-557A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720471 | |||||||
| chrX:135720473 | A | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720473 | |||||||
| chrX:135720475 | G | A | 35 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.170-553G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720475 | |||||||
| chrX:135720485 | C | T | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-543C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720485 | |||||||
| chrX:135720499 | A | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-529A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720499 | |||||||
| chrX:135720518 | A | G | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-510A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720518 | |||||||
| chrX:135720527 | G | A | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-501G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720527 | |||||||
| chrX:135720529 | AG | A | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-498delG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720529 | |||||||
| chrX:135720532 | G | C | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-496G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720532 | |||||||
| chrX:135720538 | G | A | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-490G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720538 | |||||||
| chrX:135720540 | T | C | 4 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0017 others(1): Show |
5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-488T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720540 | |||||||
| chrX:135721633 | G | GT | 8 | a0001c0001t0001g0033 a0002c0002t0002g0006 a0002c0002t0002g0017 others(5): Show |
9 | HG01943.hp1 HG02132.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.419-13dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 135721633 | ||||||
| chrX:135721875 | C | T | 35 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135721875 | |||||||
| chrX:135721915 | G | C | 2 | a0001c0001t0002g0004 a0001c0001t0002g0010 |
3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.512+164G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135721915 | |||||||
| chrX:135722231 | T | G | 22 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(19): Show |
35 | HG00140.hp1 HG00621.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.512+480T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722231 | |||||||
| chrX:135722346 | CTCTATCT others(22): Show |
C | 1 | a0001c0001t0001g0028 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.512+596_513-601del others(29): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722346 | |||||||
| chrX:135722451 | A | G | 1 | a0001c0001t0001g0032 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.513-525A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722451 | |||||||
| chrX:135722639 | G | C | 2 | a0001c0001t0001g0008 a0001c0001t0003g0008 |
2 | NA18945.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.513-337G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722639 | |||||||
| chrX:135722739 | C | G | 1 | a0002c0002t0002g0019 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.513-237C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722739 | |||||||
| chrX:135722905 | T | C | 13 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0015 others(10): Show |
16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-71T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722905 | |||||||
| chrX:135722906 | G | A | 13 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0015 others(10): Show |
16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-70G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722906 | |||||||
| chrX:135722913 | C | T | 13 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0015 others(10): Show |
16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-63C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722913 | |||||||
| chrX:135722919 | CTACAGCA others(22): Show |
C | 1 | a0001c0001t0001g0029 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.513-56_513-28delTA others(27): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722919 | |||||||
| chrX:135722937 | G | A | 8 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
18 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.513-39G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722937 |