| geneid | 100130361 |
|---|---|
| ensemblid | ENSG00000215115.7 |
| hgncid | 30891 |
| symbol | CXorf49 |
| name | chromosome X open reading frame 49 |
| refseq_nuc | NM_001145140.2 |
| refseq_prot | NP_001138612.1 |
| ensembl_nuc | ENST00000535490.3 |
| ensembl_prot | ENSP00000480355.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 71714371 |
| end | 71718285 |
| strand | - |
| ver | v1.2 |
| region | chrX:71714371-71718285 |
| region5000 | chrX:71709371-71723285 |
| regionname0 | CXorf49_chrX_71714371_71718285 |
| regionname5000 | CXorf49_chrX_71709371_71723285 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 514 | 40 | 5 | 15 | 12 | 3 | 5 | 7 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0002 | 0/0 | 514 | 13 | 4 | 1 | 5 | 0 | 3 | 3 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0003 | 0/0 | 514 | 8 | 4 | 2 | 1 | 0 | 1 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0004 | 0/0 | 514 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0005 | 0/0 | 514 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0006 | 0/0 | 65 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0007 | 0/0 | 68 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0008 | 0/0 | 514 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0009 | 0/0 | 500 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0010 | 0/0 | 372 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0011 | 0/0 | 209 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0012 | 0/0 | 213 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0013 | 0/0 | 515 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0014 | 0/0 | 514 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1545 | 38 | 4 | 14 | 12 | 3 | 5 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0002 | 0/0 | 1545 | 13 | 4 | 1 | 5 | 0 | 3 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0003 | 0/0 | 1545 | 8 | 4 | 2 | 1 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0004 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0005 | 0/0 | 1541 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0006 | 0/0 | 1544 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0007 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0008 | 0/0 | 1561 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0009 | 0/0 | 1546 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0010 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0011 | 0/0 | 1544 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0012 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0013 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0014 | 0/0 | 1549 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0015 | 0/0 | 1548 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0016 | 0/0 | 1545 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| c0017 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 309 | 66 | 13 | 18 | 20 | 4 | 11 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| t0002 | 0/0 | 310 | 3 | 0 | 2 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| t0003 | 0/0 | 309 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| t0004 | 0/0 | 310 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| t0005 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| t0006 | 0/0 | 312 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 28 | 1 | 10 | 11 | 2 | 4 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0002 | 0/0 | 11 | 4 | 1 | 4 | 0 | 2 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0003 | 0/0 | 7 | 4 | 2 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0004 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1545 | 38 | 4 | 14 | 12 | 3 | 5 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0012 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0016 | 0/0 | 1545 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0002c0002 | 0/0 | 1545 | 13 | 4 | 1 | 5 | 0 | 3 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0003c0003 | 0/0 | 1545 | 8 | 4 | 2 | 1 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0004c0007 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0004c0010 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0005c0017 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0006c0006 | 0/0 | 1544 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0007c0014 | 0/0 | 1549 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0008c0013 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0009c0011 | 0/0 | 1544 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0010c0009 | 0/0 | 1546 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0011c0008 | 0/0 | 1561 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0012c0005 | 0/0 | 1541 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0013c0015 | 0/0 | 1548 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0014c0004 | 0/0 | 1545 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1853 | 33 | 2 | 12 | 11 | 3 | 5 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0001t0002 | 0/0 | 1854 | 2 | 0 | 2 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0001t0003 | 0/0 | 1853 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0001t0004 | 0/0 | 1854 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0001t0005 | 0/0 | 1854 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0012t0001 | 0/0 | 1853 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0001c0016t0001 | 0/0 | 1853 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0002c0002t0001 | 0/0 | 1853 | 12 | 4 | 1 | 5 | 0 | 2 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0002c0002t0002 | 0/0 | 1854 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0003c0003t0001 | 0/0 | 1853 | 8 | 4 | 2 | 1 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0004c0007t0001 | 0/0 | 1853 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0004c0010t0001 | 0/0 | 1853 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0005c0017t0001 | 0/0 | 1853 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0006c0006t0001 | 0/0 | 1852 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0007c0014t0001 | 0/0 | 1857 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0008c0013t0001 | 0/0 | 1853 | 1 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0009c0011t0001 | 0/0 | 1852 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0010c0009t0001 | 0/0 | 1854 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0011c0008t0001 | 0/0 | 1869 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0012c0005t0006 | 0/0 | 1852 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0013c0015t0001 | 0/0 | 1856 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| a0014c0004t0001 | 0/0 | 1853 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | copy fasta | chrX | 71709371 | 71723285 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 28 | 1 | 10 | 11 | 2 | 4 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0001g0004 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0002g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0004g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0001t0005g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0012t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0001c0016t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0002c0002t0001g0002 | 0/0 | 11 | 4 | 1 | 4 | 0 | 2 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0002c0002t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0003c0003t0001g0003 | 0/0 | 7 | 4 | 2 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0003c0003t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0004c0007t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0004c0010t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0005c0017t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0006c0006t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0007c0014t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0008c0013t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0009c0011t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0010c0009t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0011c0008t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0012c0005t0006g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0013c0015t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| a0014c0004t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0004 | EUR | GBR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00099 | hp2 | a0008 | c0013 | t0001 | g0020 | EUR | GBR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00558 | hp1 | a0007 | c0014 | t0001 | g0021 | EAS | CHS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00558 | hp2 | a0006 | c0006 | t0001 | g0009 | EAS | CHS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00621 | hp1 | a0011 | c0008 | t0001 | g0011 | EAS | CHS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00673 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00735 | hp1 | a0013 | c0015 | t0001 | g0022 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01169 | hp2 | a0009 | c0011 | t0001 | g0014 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0005 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0005 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01243 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01255 | hp1 | a0001 | c0016 | t0001 | g0023 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01346 | hp1 | a0003 | c0003 | t0001 | g0003 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01346 | hp2 | a0003 | c0003 | t0001 | g0003 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02055 | hp1 | a0001 | c0001 | t0003 | g0016 | AFR | ACB | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02074 | hp1 | a0002 | c0002 | t0001 | g0007 | EAS | KHV | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02647 | hp2 | a0003 | c0003 | t0001 | g0003 | AFR | GWD | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02683 | hp1 | a0012 | c0005 | t0006 | g0026 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02809 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02809 | hp2 | a0003 | c0003 | t0001 | g0003 | AFR | GWD | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG02965 | hp2 | a0001 | c0012 | t0001 | g0019 | AFR | ESN | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03139 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | ESN | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03225 | hp1 | a0004 | c0010 | t0001 | g0013 | AFR | MSL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03486 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | MSL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | MSL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03492 | hp1 | a0002 | c0002 | t0002 | g0006 | SAS | PJL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03540 | hp1 | a0001 | c0001 | t0005 | g0027 | AFR | GWD | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03540 | hp2 | a0003 | c0003 | t0001 | g0003 | AFR | GWD | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03579 | hp1 | a0003 | c0003 | t0001 | g0003 | AFR | MSL | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | BEB | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG04184 | hp1 | a0010 | c0009 | t0001 | g0012 | SAS | BEB | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG04184 | hp2 | a0014 | c0004 | t0001 | g0008 | SAS | BEB | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG04199 | hp2 | a0005 | c0017 | t0001 | g0024 | SAS | STU | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| HG04204 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | STU | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18971 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19000 | hp1 | a0003 | c0003 | t0001 | g0018 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19030 | hp2 | a0004 | c0007 | t0001 | g0010 | AFR | LWK | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19043 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | LWK | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19089 | hp1 | a0001 | c0001 | t0004 | g0025 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| NA20905 | hp1 | a0003 | c0003 | t0001 | g0003 | SAS | GIH | CXorf49_chrX_71709371_71723285 | CXorf49 | chrX | 71709371 | 71723285 |
| 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:71715593
|
TC | T | 1 | a0009 | 1 | HG01169.hp2 | frameshift_variant | HIGH | c.1439delG | p.Gly480fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 3/6 | 1573/1854 | 1439/1545 | 480/514 | chrX | 71715593 | ||
| chrX:71716242
|
G | C | 1 | a0009 | 1 | HG01169.hp2 | missense_variant | MODERATE | c.1334C>G | p.Ser445Trp | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/6 | 1468/1854 | 1334/1545 | 445/514 | chrX | 71716242 | ||
| chrX:71716937
|
TG | T | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.1214delC | p.Pro405fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1348/1854 | 1214/1545 | 405/514 | chrX | 71716937 | ||
| chrX:71716952
|
A | AT | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.1199dupA | p.Asn400fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1333/1854 | 1199/1545 | 400/514 | chrX | 71716952 | ||
| chrX:71717024
|
G | GC | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.1127dupG | p.Ser376fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1261/1854 | 1127/1545 | 376/514 | chrX | 71717024 | ||
| chrX:71717059
|
TC | T | 1 | a0006 | 1 | HG00558.hp2 | frameshift_variant | HIGH | c.1092delG | p.Met365fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1226/1854 | 1092/1545 | 364/514 | chrX | 71717059 | ||
| chrX:71717087
|
C | CG | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.1064dupC | p.Pro356fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1198/1854 | 1064/1545 | 355/514 | chrX | 71717087 | ||
| chrX:71717154
|
A | G | 7 | a0002a0003a0004others(4): Show | 27 | HG00558.hp2 HG00673.hp1 HG01169.hp2 others(24): Show |
missense_variant | MODERATE | c.998T>C | p.Leu333Pro | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1132/1854 | 998/1545 | 333/514 | chrX | 71717154 | ||
| chrX:71717163
|
T | TGA | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.987_988dupTC | p.Gln330fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1122/1854 | 988/1545 | 330/514 | chrX | 71717163 | ||
| chrX:71717178
|
A | AG | 1 | a0010 | 1 | HG04184.hp1 | frameshift_variant | HIGH | c.973dupC | p.Leu325fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1107/1854 | 973/1545 | 325/514 | chrX | 71717178 | ||
| chrX:71717229
|
G | GC | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.922dupG | p.Ala308fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1056/1854 | 922/1545 | 308/514 | chrX | 71717229 | ||
| chrX:71717273
|
CT | C | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.878delA | p.Lys293fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1012/1854 | 878/1545 | 293/514 | chrX | 71717273 | ||
| chrX:71717307
|
G | A | 3 | a0003a0006a0012 | 10 | HG00558.hp2 HG01346.hp1 HG01346.hp2 others(7): Show |
missense_variant | MODERATE | c.845C>T | p.Pro282Leu | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 979/1854 | 845/1545 | 282/514 | chrX | 71717307 | ||
| chrX:71717447
|
CT | C | 1 | a0006 | 1 | HG00558.hp2 | frameshift_variant | HIGH | c.704delA | p.Lys235fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 838/1854 | 704/1545 | 235/514 | chrX | 71717447 | ||
| chrX:71717545
|
C | CGTGGGTA others(9): Show |
1 | a0011 | 1 | HG00621.hp1 | frameshift_variant | HIGH | c.591_606dupCAGGCTGC others(8): Show |
p.Asp203fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 740/1854 | 606/1545 | 202/514 | chrX | 71717545 | ||
| chrX:71717657
|
A | AG | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.494dupC | p.Gly166fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 628/1854 | 494/1545 | 165/514 | chrX | 71717657 | ||
| chrX:71717676
|
C | G | 1 | a0005 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.476G>C | p.Arg159Pro | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 610/1854 | 476/1545 | 159/514 | chrX | 71717676 | ||
| chrX:71717705
|
AG | A | 1 | a0012 | 1 | HG02683.hp1 | frameshift_variant | HIGH | c.446delC | p.Pro149fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 580/1854 | 446/1545 | 149/514 | chrX | 71717705 | ||
| chrX:71717724
|
T | C | 3 | a0003a0006a0012 | 10 | HG00558.hp2 HG01346.hp1 HG01346.hp2 others(7): Show |
missense_variant | MODERATE | c.428A>G | p.Asp143Gly | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 562/1854 | 428/1545 | 143/514 | chrX | 71717724 | ||
| chrX:71717773
|
C | A | 1 | a0014 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.379G>T | p.Gly127Trp | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 513/1854 | 379/1545 | 127/514 | chrX | 71717773 | ||
| chrX:71717892
|
G | A | 1 | a0008 | 1 | HG00099.hp2 | missense_variant | MODERATE | c.260C>T | p.Pro87Leu | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 394/1854 | 260/1545 | 87/514 | chrX | 71717892 | ||
| chrX:71717913
|
CG | C | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.238delC | p.Arg80fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 372/1854 | 238/1545 | 80/514 | chrX | 71717913 | ||
| chrX:71717925
|
A | AC | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.226dupG | p.Val76fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 360/1854 | 226/1545 | 76/514 | chrX | 71717925 | ||
| chrX:71717947
|
AT | A | 1 | a0007 | 1 | HG00558.hp1 | frameshift_variant | HIGH | c.204delA | p.Glu68fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 338/1854 | 204/1545 | 68/514 | chrX | 71717947 | ||
| chrX:71717972
|
GC | G | 1 | a0012 | 1 | HG02683.hp1 | frameshift_variant | HIGH | c.179delG | p.Gly60fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 313/1854 | 179/1545 | 60/514 | chrX | 71717972 | ||
| chrX:71717989
|
A | AC | 1 | a0013 | 1 | HG00735.hp1 | frameshift_variant | HIGH | c.162dupG | p.Phe55fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 296/1854 | 162/1545 | 54/514 | chrX | 71717989 | ||
| chrX:71718024
|
A | AC | 2 | a0006a0013 | 2 | HG00558.hp2 HG00735.hp1 |
frameshift_variant | HIGH | c.127dupG | p.Val43fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 261/1854 | 127/1545 | 43/514 | chrX | 71718024 | ||
| chrX:71718024
|
AC | A | 1 | a0012 | 1 | HG02683.hp1 | frameshift_variant | HIGH | c.127delG | p.Val43fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 261/1854 | 127/1545 | 43/514 | chrX | 71718024 | ||
| chrX:71718051
|
GC | G | 1 | a0012 | 1 | HG02683.hp1 | frameshift_variant | HIGH | c.100delG | p.Ala34fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 234/1854 | 100/1545 | 34/514 | chrX | 71718051 | ||
| chrX:71718122
|
A | C | 2 | a0002a0014 | 14 | HG00673.hp1 HG01243.hp1 HG02074.hp1 others(11): Show |
missense_variant | MODERATE | c.30T>G | p.Cys10Trp | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 164/1854 | 30/1545 | 10/514 | chrX | 71718122 | ||
| chrX:71718123
|
C | CA | 1 | a0013 | 1 | HG00735.hp1 | frameshift_variant | HIGH | c.28dupT | p.Cys10fs | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 162/1854 | 28/1545 | 10/514 | chrX | 71718123 | ||
| chrX:71718144
|
G | A | 1 | a0005 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.8C>T | p.Ser3Phe | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 142/1854 | 8/1545 | 3/514 | chrX | 71718144 |
| 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:71717240
|
A | G | 17 | a0001c0001a0001c0012a0001c0016others(14): Show | 73 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
synonymous_variant | LOW | c.912T>C | p.Ala304Ala | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 1046/1854 | 912/1545 | 304/514 | chrX | 71717240 | ||
| chrX:71717573
|
C | T | 1 | a0004c0007 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.579G>A | p.Ala193Ala | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 713/1854 | 579/1545 | 193/514 | chrX | 71717573 | ||
| chrX:71717783
|
G | A | 1 | a0001c0012 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.369C>T | p.Ala123Ala | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 503/1854 | 369/1545 | 123/514 | chrX | 71717783 | ||
| chrX:71718128
|
G | A | 1 | a0001c0016 | 1 | HG01255.hp1 | synonymous_variant | LOW | c.24C>T | p.Ser8Ser | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 158/1854 | 24/1545 | 8/514 | chrX | 71718128 |
| 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:71714407
|
C | T | 1 | a0001c0001t0003 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*139G>A | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 6/6 | 245 | chrX | 71714407 | |||||
| chrX:71718224
|
C | CA | 1 | a0001c0001t0004 | 1 | NA19089.hp1 | 5_prime_UTR_variant | MODIFIER | c.-74dupT | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 74 | chrX | 71718224 | |||||
| chrX:71718231
|
G | GC | 1 | a0012c0005t0006 | 1 | HG02683.hp1 | 5_prime_UTR_variant | MODIFIER | c.-81dupG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 81 | chrX | 71718231 | |||||
| chrX:71718281
|
A | AC | 2 | a0001c0001t0002a0002c0002t0002 | 3 | HG01175.hp1 HG01175.hp2 HG03492.hp1 |
5_prime_UTR_variant | MODIFIER | c.-131dupG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 131 | chrX | 71718281 | |||||
| chrX:71718283
|
C | CA | 1 | a0001c0001t0005 | 1 | HG03540.hp1 | 5_prime_UTR_variant | MODIFIER | c.-133_-132insT | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 133 | chrX | 71718283 | |||||
| chrX:71718284
|
G | GCC | 1 | a0012c0005t0006 | 1 | HG02683.hp1 | 5_prime_UTR_variant | MODIFIER | c.-134_-133insGG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/6 | 134 | chrX | 71718284 |
| 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:71714813
|
A | G | 1 | a0001c0001t0001g0004 | 3 | HG00099.hp1 HG00735.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.1505-121T>C | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 4/5 | chrX | 71714813 | ||||||
| chrX:71714952
|
A | G | 26 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0015others(23): Show | 72 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show |
intron_variant | MODIFIER | c.1505-260T>C | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 4/5 | chrX | 71714952 | ||||||
| chrX:71715548
|
A | G | 1 | a0009c0011t0001g0014 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1458+27T>C | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 3/5 | chrX | 71715548 | ||||||
| chrX:71715893
|
C | T | 1 | a0002c0002t0001g0007 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1382-242G>A | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71715893 | ||||||
| chrX:71715981
|
C | T | 1 | a0004c0007t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1381+214G>A | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71715981 | ||||||
| chrX:71715995
|
G | GC | 1 | a0010c0009t0001g0012 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1381+199dupG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71715995 | ||||||
| chrX:71716057
|
A | AC | 2 | a0001c0001t0001g0015a0003c0003t0001g0018 | 2 | HG03017.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1381+137dupG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71716057 | ||||||
| chrX:71716103
|
G | A | 1 | a0005c0017t0001g0024 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1381+92C>T | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71716103 | ||||||
| chrX:71716154
|
A | AC | 1 | a0002c0002t0002g0006 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1381+40dupG | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 2/5 | chrX | 71716154 | ||||||
| chrX:71716408
|
G | C | 1 | a0004c0010t0001g0013 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1225-57C>G | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716408 | ||||||
| chrX:71716445
|
A | G | 1 | a0001c0012t0001g0019 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1225-94T>C | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716445 | ||||||
| chrX:71716554
|
T | C | 1 | a0004c0007t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1225-203A>G | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716554 | ||||||
| chrX:71716779
|
C | T | 1 | a0004c0010t0001g0013 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1224+149G>A | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716779 | ||||||
| chrX:71716788
|
T | TTC | 1 | a0007c0014t0001g0021 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1224+138_1224+139d others(4): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716788 | ||||||
| chrX:71716888
|
AG | A | 1 | a0007c0014t0001g0021 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1224+39delC | CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1/5 | chrX | 71716888 |