| geneid | 2034 |
|---|---|
| ensemblid | ENSG00000116016.14 |
| hgncid | 3374 |
| symbol | EPAS1 |
| name | endothelial PAS domain protein 1 |
| refseq_nuc | NM_001430.5 |
| refseq_prot | NP_001421.2 |
| ensembl_nuc | ENST00000263734.5 |
| ensembl_prot | ENSP00000263734.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 46297407 |
| end | 46386697 |
| strand | + |
| ver | v1.2 |
| region | chr2:46297407-46386697 |
| region5000 | chr2:46292407-46391697 |
| regionname0 | EPAS1_chr2_46297407_46386697 |
| regionname5000 | EPAS1_chr2_46292407_46391697 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 870 | 252 | 46 | 55 | 100 | 16 | 33 | 75 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002 | 0/0 | 870 | 48 | 25 | 0 | 21 | 0 | 2 | 18 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003 | 0/0 | 870 | 21 | 18 | 3 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0004 | 0/0 | 870 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0005 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0006 | 0/0 | 870 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0007 | 0/0 | 870 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 2613 | 245 | 44 | 52 | 99 | 15 | 33 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0002 | 0/0 | 2613 | 45 | 23 | 0 | 21 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0003 | 0/0 | 2613 | 12 | 10 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0004 | 0/0 | 2613 | 9 | 8 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0005 | 0/0 | 2613 | 2 | 0 | 1 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0006 | 0/0 | 2613 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0007 | 0/0 | 2613 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0008 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0009 | 0/0 | 2613 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0010 | 0/0 | 2613 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0011 | 0/0 | 2613 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0012 | 0/0 | 2613 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0013 | 0/0 | 2613 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0014 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0015 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| c0016 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| 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 | 0/1 | 2541 | 174 | 28 | 27 | 85 | 8 | 25 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0002 | 1/0 | 2543 | 26 | 1 | 8 | 7 | 5 | 4 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0003 | 0/0 | 2541 | 18 | 0 | 1 | 17 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0004 | 0/0 | 2545 | 15 | 7 | 1 | 4 | 0 | 3 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0005 | 0/0 | 2542 | 13 | 11 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0006 | 0/0 | 2542 | 11 | 10 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0007 | 0/0 | 2542 | 10 | 1 | 2 | 5 | 1 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0008 | 0/0 | 2542 | 6 | 5 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0009 | 0/0 | 2543 | 5 | 3 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0010 | 0/0 | 2541 | 4 | 0 | 3 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0011 | 0/0 | 2542 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0012 | 0/0 | 2543 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0013 | 0/0 | 2541 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0014 | 0/0 | 2541 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0015 | 0/0 | 2542 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0016 | 0/0 | 2541 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0017 | 0/0 | 2541 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0018 | 0/0 | 2542 | 2 | 0 | 0 | 1 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0019 | 0/0 | 2546 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0020 | 0/0 | 2543 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0021 | 0/0 | 2543 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0022 | 0/0 | 2543 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0023 | 0/0 | 2541 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0024 | 0/0 | 2541 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0025 | 0/0 | 2541 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0026 | 0/0 | 2541 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0027 | 0/0 | 2541 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0028 | 0/0 | 2541 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0029 | 0/0 | 2541 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0030 | 0/0 | 2546 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0031 | 0/0 | 2542 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0032 | 0/0 | 2542 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0033 | 0/0 | 2543 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0034 | 0/0 | 2543 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0035 | 0/0 | 2541 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0036 | 0/0 | 2543 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0037 | 0/0 | 2544 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0038 | 0/0 | 2541 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0039 | 0/0 | 2542 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0040 | 0/0 | 2543 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0041 | 0/0 | 2543 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0042 | 0/0 | 2542 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0043 | 0/0 | 2543 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| t0044 | 0/0 | 2541 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0004 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0207 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0242 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0264 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0269 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0275 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0288 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0309 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0312 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0315 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0317 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2613 | 245 | 44 | 52 | 99 | 15 | 33 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0005 | 0/0 | 2613 | 2 | 0 | 1 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0006 | 0/0 | 2613 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0010 | 0/0 | 2613 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0011 | 0/0 | 2613 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0016 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002 | 0/0 | 2613 | 45 | 23 | 0 | 21 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0013 | 0/0 | 2613 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0014 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0015 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0003 | 0/0 | 2613 | 12 | 10 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004 | 0/0 | 2613 | 9 | 8 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0004c0007 | 0/0 | 2613 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0005c0008 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0006c0009 | 0/0 | 2613 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0007c0012 | 0/0 | 2613 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 5153 | 148 | 21 | 26 | 69 | 8 | 23 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0002 | 1/0 | 5155 | 26 | 1 | 8 | 7 | 5 | 4 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0003 | 0/0 | 5153 | 11 | 0 | 1 | 10 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0004 | 0/0 | 5157 | 13 | 6 | 1 | 4 | 0 | 2 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0005 | 0/0 | 5154 | 5 | 3 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0007 | 0/0 | 5154 | 10 | 1 | 2 | 5 | 1 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0008 | 0/0 | 5154 | 4 | 3 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0010 | 0/0 | 5153 | 4 | 0 | 3 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0011 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0012 | 0/0 | 5155 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0016 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0017 | 0/0 | 5153 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0018 | 0/0 | 5154 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0022 | 0/0 | 5155 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0023 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0024 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0025 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0026 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0027 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0028 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0030 | 0/0 | 5158 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0034 | 0/0 | 5155 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0035 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0036 | 0/0 | 5155 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0037 | 0/0 | 5156 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0038 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0040 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0041 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0001t0044 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0005t0001 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0005t0018 | 0/0 | 5154 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0006t0029 | 0/0 | 5153 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0006t0039 | 0/0 | 5154 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0010t0016 | 0/0 | 5153 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0011t0001 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0001c0016t0005 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0001 | 0/0 | 5153 | 22 | 7 | 0 | 14 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0003 | 0/0 | 5153 | 7 | 0 | 0 | 7 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0004 | 0/0 | 5157 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0005 | 0/0 | 5154 | 6 | 6 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0014 | 0/0 | 5153 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0015 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0019 | 0/0 | 5158 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0020 | 0/0 | 5155 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0002t0043 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0013t0001 | 0/0 | 5153 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0014t0005 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0002c0015t0031 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0003t0006 | 0/0 | 5154 | 9 | 8 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0003t0009 | 0/0 | 5155 | 2 | 1 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0003t0033 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004t0006 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004t0008 | 0/0 | 5154 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004t0009 | 0/0 | 5155 | 3 | 2 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004t0021 | 0/0 | 5155 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0003c0004t0032 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0004c0007t0013 | 0/0 | 5153 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0005c0008t0042 | 0/0 | 5154 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0006c0009t0004 | 0/0 | 5157 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| a0007c0012t0001 | 0/0 | 5153 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | copy fasta | chr2 | 46292407 | 46391697 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0207 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0315 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0001g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0002g0312 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0003g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0264 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0004g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0005g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0005g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0005g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0005g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0007g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0008g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0008g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0008g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0010g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0010g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0010g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0011g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0011g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0012g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0012g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0016g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0017g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0017g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0018g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0022g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0023g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0024g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0025g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0026g0288 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0027g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0028g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0030g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0034g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0035g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0036g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0037g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0038g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0040g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0041g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0001t0044g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0005t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0005t0018g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0006t0029g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0006t0039g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0010t0016g0309 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0011t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0001c0016t0005g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0003g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0004g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0005g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0014g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0014g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0015g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0015g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0019g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0019g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0020g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0020g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0002t0043g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0013t0001g0317 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0014t0005g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0002c0015t0031g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0006g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0009g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0009g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0003t0033g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0006g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0006g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0008g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0008g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0009g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0009g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0009g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0021g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0003c0004t0032g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0004c0007t0013g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0004c0007t0013g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0005c0008t0042g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0006c0009t0004g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| a0007c0012t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0103 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00099 | hp2 | a0001 | c0005 | t0018 | g0183 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0060 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0242 | EUR | GBR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00280 | hp1 | a0001 | c0001 | t0044 | g0213 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0114 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0093 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0275 | EUR | FIN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0115 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0232 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0279 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0169 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0092 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0072 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0245 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0100 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00673 | hp1 | a0001 | c0001 | t0038 | g0287 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00673 | hp2 | a0001 | c0001 | t0010 | g0191 | EAS | CHS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00738 | hp1 | a0001 | c0001 | t0005 | g0028 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0313 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00741 | hp1 | a0001 | c0010 | t0016 | g0309 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG00741 | hp2 | a0001 | c0001 | t0004 | g0041 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01074 | hp1 | a0001 | c0001 | t0010 | g0003 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0300 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01081 | hp1 | a0001 | c0001 | t0012 | g0094 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01081 | hp2 | a0003 | c0004 | t0009 | g0022 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01099 | hp1 | a0001 | c0001 | t0002 | g0108 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01099 | hp2 | a0001 | c0001 | t0010 | g0003 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01106 | hp1 | a0001 | c0001 | t0024 | g0065 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01106 | hp2 | a0001 | c0001 | t0012 | g0109 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01109 | hp1 | a0003 | c0003 | t0009 | g0019 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01109 | hp2 | a0001 | c0001 | t0008 | g0229 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0117 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01175 | hp1 | a0003 | c0003 | t0006 | g0196 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01175 | hp2 | a0001 | c0001 | t0034 | g0291 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01243 | hp1 | a0001 | c0006 | t0039 | g0032 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01243 | hp2 | a0001 | c0001 | t0017 | g0225 | AMR | PUR | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01255 | hp1 | a0001 | c0001 | t0007 | g0219 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0246 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0038 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0039 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0256 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0116 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01358 | hp1 | a0001 | c0001 | t0016 | g0125 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01358 | hp2 | a0001 | c0005 | t0001 | g0071 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01433 | hp1 | a0001 | c0001 | t0036 | g0186 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01433 | hp2 | a0001 | c0001 | t0007 | g0130 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01496 | hp2 | a0001 | c0001 | t0010 | g0142 | AMR | CLM | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0127 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01515 | hp2 | a0001 | c0001 | t0007 | g0221 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01516 | hp1 | a0001 | c0001 | t0002 | g0126 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0222 | EUR | IBS | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01884 | hp1 | a0001 | c0001 | t0005 | g0029 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01884 | hp2 | a0003 | c0004 | t0006 | g0141 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01891 | hp1 | a0003 | c0004 | t0006 | g0195 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01891 | hp2 | a0003 | c0003 | t0006 | g0069 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01928 | hp1 | a0001 | c0001 | t0025 | g0096 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0075 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0081 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01978 | hp1 | a0001 | c0001 | t0005 | g0187 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0224 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0255 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0123 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0076 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02055 | hp1 | a0001 | c0001 | t0007 | g0310 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02055 | hp2 | a0002 | c0002 | t0005 | g0012 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02056 | hp1 | a0001 | c0001 | t0007 | g0074 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02071 | hp1 | a0001 | c0001 | t0003 | g0212 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02071 | hp2 | a0002 | c0002 | t0003 | g0251 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02074 | hp2 | a0001 | c0001 | t0003 | g0281 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0285 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0262 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0280 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02132 | hp1 | a0001 | c0001 | t0004 | g0165 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02132 | hp2 | a0001 | c0001 | t0018 | g0185 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02145 | hp1 | a0003 | c0003 | t0006 | g0295 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02145 | hp2 | a0002 | c0002 | t0014 | g0048 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | CDX | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0131 | EAS | CDX | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02257 | hp1 | a0002 | c0002 | t0001 | g0292 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02257 | hp2 | a0002 | c0002 | t0004 | g0040 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02258 | hp1 | a0001 | c0001 | t0004 | g0042 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0311 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02280 | hp2 | a0003 | c0004 | t0008 | g0218 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02293 | hp1 | a0001 | c0001 | t0003 | g0240 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PEL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02451 | hp1 | a0002 | c0002 | t0020 | g0031 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02451 | hp2 | a0003 | c0003 | t0009 | g0319 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0305 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02523 | hp2 | a0002 | c0002 | t0001 | g0155 | EAS | KHV | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02572 | hp1 | a0001 | c0001 | t0005 | g0036 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02572 | hp2 | a0003 | c0003 | t0006 | g0057 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0284 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02622 | hp1 | a0002 | c0002 | t0005 | g0021 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02622 | hp2 | a0001 | c0001 | t0005 | g0025 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02630 | hp1 | a0002 | c0002 | t0001 | g0149 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02630 | hp2 | a0002 | c0002 | t0043 | g0037 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02647 | hp2 | a0001 | c0001 | t0041 | g0026 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0220 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02683 | hp2 | a0002 | c0013 | t0001 | g0317 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02717 | hp2 | a0001 | c0001 | t0011 | g0136 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0293 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02723 | hp2 | a0002 | c0002 | t0005 | g0033 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0066 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02735 | hp2 | a0001 | c0001 | t0037 | g0184 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02809 | hp1 | a0003 | c0004 | t0008 | g0135 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02809 | hp2 | a0001 | c0001 | t0035 | g0064 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0259 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0265 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02886 | hp1 | a0004 | c0007 | t0013 | g0172 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02886 | hp2 | a0002 | c0002 | t0005 | g0034 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02895 | hp1 | a0002 | c0002 | t0001 | g0150 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02895 | hp2 | a0001 | c0001 | t0017 | g0302 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02896 | hp1 | a0001 | c0001 | t0008 | g0001 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0144 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02897 | hp1 | a0001 | c0001 | t0008 | g0001 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02897 | hp2 | a0002 | c0002 | t0001 | g0179 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02965 | hp1 | a0002 | c0002 | t0005 | g0016 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02965 | hp2 | a0002 | c0002 | t0015 | g0297 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0294 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0049 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02976 | hp1 | a0004 | c0007 | t0013 | g0055 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02976 | hp2 | a0003 | c0004 | t0009 | g0035 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03017 | hp1 | a0001 | c0001 | t0027 | g0084 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0122 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03041 | hp1 | a0003 | c0003 | t0006 | g0043 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03041 | hp2 | a0001 | c0001 | t0004 | g0146 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03098 | hp1 | a0002 | c0002 | t0015 | g0189 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0296 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0140 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03130 | hp2 | a0001 | c0001 | t0008 | g0045 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03139 | hp1 | a0001 | c0001 | t0030 | g0056 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03139 | hp2 | a0002 | c0002 | t0019 | g0027 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03195 | hp1 | a0002 | c0015 | t0031 | g0193 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03195 | hp2 | a0003 | c0004 | t0032 | g0170 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0097 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03209 | hp2 | a0001 | c0001 | t0040 | g0013 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03225 | hp1 | a0001 | c0001 | t0011 | g0138 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0054 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03453 | hp1 | a0001 | c0001 | t0004 | g0307 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03453 | hp2 | a0001 | c0006 | t0029 | g0194 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03486 | hp1 | a0002 | c0002 | t0001 | g0152 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03486 | hp2 | a0003 | c0004 | t0021 | g0137 | AFR | MSL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03491 | hp1 | a0001 | c0001 | t0002 | g0011 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0129 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0128 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03516 | hp1 | a0002 | c0002 | t0020 | g0018 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03516 | hp2 | a0003 | c0003 | t0006 | g0306 | AFR | ESN | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03540 | hp2 | a0002 | c0014 | t0005 | g0024 | AFR | GWD | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0177 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0299 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0162 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03704 | hp2 | a0002 | c0002 | t0001 | g0101 | SAS | PJL | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0258 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03834 | hp1 | a0001 | c0001 | t0026 | g0288 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0083 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03942 | hp1 | a0001 | c0001 | t0004 | g0010 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG03942 | hp2 | a0006 | c0009 | t0004 | g0223 | SAS | BEB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0161 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04199 | hp1 | a0001 | c0001 | t0004 | g0264 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0077 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0104 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0268 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG04228 | hp2 | a0001 | c0001 | t0007 | g0270 | SAS | STU | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18522 | hp2 | a0002 | c0002 | t0001 | g0052 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0271 | EAS | CHB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18747 | hp2 | a0001 | c0011 | t0001 | g0105 | EAS | CHB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0145 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18906 | hp2 | a0001 | c0001 | t0004 | g0046 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0316 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18942 | hp1 | a0001 | c0001 | t0004 | g0214 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18942 | hp2 | a0001 | c0001 | t0002 | g0247 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0303 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18951 | hp1 | a0001 | c0001 | t0004 | g0267 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18951 | hp2 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0318 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0249 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18956 | hp2 | a0002 | c0002 | t0001 | g0176 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18960 | hp1 | a0001 | c0001 | t0004 | g0238 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18964 | hp2 | a0002 | c0002 | t0003 | g0250 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18968 | hp1 | a0001 | c0001 | t0003 | g0257 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18971 | hp2 | a0002 | c0002 | t0003 | g0241 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18973 | hp1 | a0002 | c0002 | t0001 | g0158 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18973 | hp2 | a0002 | c0002 | t0003 | g0226 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18974 | hp1 | a0002 | c0002 | t0003 | g0227 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18974 | hp2 | a0002 | c0002 | t0001 | g0166 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18975 | hp1 | a0007 | c0012 | t0001 | g0159 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18979 | hp2 | a0002 | c0002 | t0001 | g0124 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0276 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18983 | hp1 | a0001 | c0001 | t0007 | g0289 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18983 | hp2 | a0001 | c0001 | t0007 | g0231 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18984 | hp1 | a0002 | c0002 | t0003 | g0228 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18998 | hp1 | a0001 | c0001 | t0003 | g0205 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0304 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19007 | hp2 | a0001 | c0001 | t0003 | g0248 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0283 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19009 | hp2 | a0001 | c0001 | t0002 | g0198 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0308 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19010 | hp2 | a0001 | c0001 | t0003 | g0290 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19011 | hp2 | a0002 | c0002 | t0003 | g0204 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19012 | hp1 | a0001 | c0001 | t0007 | g0174 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0278 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19030 | hp1 | a0005 | c0008 | t0042 | g0023 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0175 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19043 | hp1 | a0003 | c0003 | t0006 | g0154 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0134 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19056 | hp1 | a0002 | c0002 | t0001 | g0058 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19060 | hp1 | a0001 | c0001 | t0022 | g0192 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0272 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19062 | hp2 | a0002 | c0002 | t0001 | g0156 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0007 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0274 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19067 | hp2 | a0001 | c0001 | t0007 | g0171 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19075 | hp1 | a0002 | c0002 | t0001 | g0298 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19075 | hp2 | a0001 | c0001 | t0003 | g0301 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19076 | hp1 | a0001 | c0001 | t0002 | g0261 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19076 | hp2 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0263 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19079 | hp2 | a0002 | c0002 | t0001 | g0181 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19082 | hp1 | a0002 | c0002 | t0001 | g0277 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0286 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19087 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0230 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19090 | hp1 | a0001 | c0001 | t0003 | g0234 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19091 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19240 | hp1 | a0003 | c0003 | t0006 | g0053 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA19240 | hp2 | a0001 | c0001 | t0028 | g0260 | AFR | YRI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20129 | hp1 | a0001 | c0001 | t0023 | g0139 | AFR | ASW | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0314 | AFR | ASW | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0315 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0059 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0269 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20805 | hp2 | a0001 | c0001 | t0002 | g0095 | EUR | TSI | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0119 | SAS | GIH | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0163 | SAS | GIH | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02109 | hp1 | a0003 | c0003 | t0033 | g0188 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02109 | hp2 | a0003 | c0004 | t0009 | g0020 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02486 | hp1 | a0002 | c0002 | t0005 | g0014 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0243 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02559 | hp1 | a0001 | c0001 | t0004 | g0180 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG02559 | hp2 | a0003 | c0003 | t0006 | g0047 | AFR | ACB | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG06807 | hp1 | a0002 | c0002 | t0001 | g0182 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| HG06807 | hp2 | a0002 | c0002 | t0019 | g0017 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20300 | hp1 | a0001 | c0016 | t0005 | g0030 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA20300 | hp2 | a0001 | c0001 | t0004 | g0051 | AFR | USA | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| NA21309 | hp2 | a0002 | c0002 | t0014 | g0044 | AFR | LWK | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0207 | REF | REF | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0312 | REF | REF | EPAS1_chr2_46292407_46391697 | EPAS1 | chr2 | 46292407 | 46391697 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:46376634
|
G | A | 1 | a0005 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.1130G>A | p.Ser377Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1635/5155 | 1130/2613 | 377/870 | chr2 | 46376634 | ||
| chr2:46380353
|
C | A | 1 | a0006 | 1 | HG03942.hp2 | missense_variant | MODERATE | c.1681C>A | p.Gln561Lys | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2186/5155 | 1681/2613 | 561/870 | chr2 | 46380353 | ||
| chr2:46380582
|
C | T | 1 | a0007 | 1 | NA18975.hp1 | missense_variant | MODERATE | c.1910C>T | p.Thr637Ile | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2415/5155 | 1910/2613 | 637/870 | chr2 | 46380582 | ||
| chr2:46382057
|
C | T | 1 | a0004 | 2 | HG02886.hp1 HG02976.hp1 |
missense_variant | MODERATE | c.2255C>T | p.Pro752Leu | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/16 | 2760/5155 | 2255/2613 | 752/870 | chr2 | 46382057 | ||
| chr2:46382433
|
A | C | 3 | a0002a0003a0005 | 70 | HG00408.hp1 HG01081.hp2 HG01109.hp1 others(67): Show |
missense_variant | MODERATE | c.2296A>C | p.Thr766Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2801/5155 | 2296/2613 | 766/870 | chr2 | 46382433 | ||
| chr2:46382490
|
C | A | 1 | a0003 | 21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
missense_variant | MODERATE | c.2353C>A | p.Pro785Thr | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2858/5155 | 2353/2613 | 785/870 | chr2 | 46382490 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:46376599
|
C | G | 1 | a0001c0016 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.1095C>G | p.Pro365Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1600/5155 | 1095/2613 | 365/870 | chr2 | 46376599 | ||
| chr2:46376617
|
C | T | 1 | a0002c0015 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.1113C>T | p.Asn371Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1618/5155 | 1113/2613 | 371/870 | chr2 | 46376617 | ||
| chr2:46376695
|
C | T | 1 | a0005c0008 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.1191C>T | p.Pro397Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1696/5155 | 1191/2613 | 397/870 | chr2 | 46376695 | ||
| chr2:46376731
|
C | T | 1 | a0002c0014 | 1 | HG03540.hp2 | synonymous_variant | LOW | c.1227C>T | p.Asp409Asp | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/16 | 1732/5155 | 1227/2613 | 409/870 | chr2 | 46376731 | ||
| chr2:46380505
|
C | T | 1 | a0002c0013 | 1 | HG02683.hp2 | synonymous_variant | LOW | c.1833C>T | p.Ala611Ala | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2338/5155 | 1833/2613 | 611/870 | chr2 | 46380505 | ||
| chr2:46380580
|
T | C | 1 | a0001c0005 | 2 | HG00099.hp2 HG01358.hp2 |
synonymous_variant | LOW | c.1908T>C | p.Asn636Asn | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/16 | 2413/5155 | 1908/2613 | 636/870 | chr2 | 46380580 | ||
| chr2:46381716
|
G | A | 1 | a0001c0006 | 2 | HG01243.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.2166G>A | p.Leu722Leu | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/16 | 2671/5155 | 2166/2613 | 722/870 | chr2 | 46381716 | ||
| chr2:46382594
|
G | A | 1 | a0001c0010 | 1 | HG00741.hp1 | synonymous_variant | LOW | c.2457G>A | p.Val819Val | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/16 | 2962/5155 | 2457/2613 | 819/870 | chr2 | 46382594 | ||
| chr2:46384558
|
C | T | 1 | a0003c0003 | 12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
synonymous_variant | LOW | c.2511C>T | p.Pro837Pro | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 3016/5155 | 2511/2613 | 837/870 | chr2 | 46384558 | ||
| chr2:46384585
|
G | T | 1 | a0001c0011 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.2538G>T | p.Val846Val | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 3043/5155 | 2538/2613 | 846/870 | chr2 | 46384585 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:46297441
|
C | T | 3 | a0001c0001t0003a0001c0001t0044a0002c0002t0003 | 19 | HG00280.hp1 HG02071.hp1 HG02071.hp2 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-471C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 471 | chr2 | 46297441 | |||||
| chr2:46297561
|
C | CT | 13 | a0001c0001t0005a0001c0001t0040a0001c0001t0041others(10): Show | 27 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
5_prime_UTR_variant | MODIFIER | c.-341dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 340 | INFO_REALIGN_3_PRIME | chr2 | 46297561 | ||||
| chr2:46297632
|
C | T | 1 | a0001c0001t0038 | 1 | HG00673.hp1 | 5_prime_UTR_variant | MODIFIER | c.-280C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 280 | chr2 | 46297632 | |||||
| chr2:46297677
|
C | A | 2 | a0001c0001t0011a0003c0004t0021 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
5_prime_UTR_variant | MODIFIER | c.-235C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 235 | chr2 | 46297677 | |||||
| chr2:46297772
|
G | A | 2 | a0001c0001t0010a0001c0001t0022 | 5 | HG00673.hp2 HG01074.hp1 HG01099.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-140G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 140 | chr2 | 46297772 | |||||
| chr2:46297799
|
T | C | 1 | a0001c0001t0023 | 1 | NA20129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-113T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 113 | chr2 | 46297799 | |||||
| chr2:46297848
|
G | GC | 6 | a0001c0001t0011a0001c0001t0018a0001c0001t0036others(3): Show | 7 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-58dupC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/16 | 57 | INFO_REALIGN_3_PRIME | chr2 | 46297848 | ||||
| chr2:46384771
|
A | G | 1 | a0001c0001t0035 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*111A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 111 | chr2 | 46384771 | |||||
| chr2:46384839
|
A | T | 1 | a0002c0002t0043 | 1 | HG02630.hp2 | 3_prime_UTR_variant | MODIFIER | c.*179A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 179 | chr2 | 46384839 | |||||
| chr2:46384868
|
T | C | 1 | a0001c0001t0012 | 2 | HG01081.hp1 HG01106.hp2 |
3_prime_UTR_variant | MODIFIER | c.*208T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 208 | chr2 | 46384868 | |||||
| chr2:46384880
|
A | T | 2 | a0002c0002t0043a0005c0008t0042 | 2 | HG02630.hp2 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*220A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 220 | chr2 | 46384880 | |||||
| chr2:46385014
|
G | C | 1 | a0001c0001t0024 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*354G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 354 | chr2 | 46385014 | |||||
| chr2:46385124
|
G | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*464G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 464 | chr2 | 46385124 | |||||
| chr2:46385187
|
GT | G | 15 | a0001c0001t0007a0001c0001t0008a0001c0001t0030others(12): Show | 40 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*540delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 540 | INFO_REALIGN_3_PRIME | chr2 | 46385187 | ||||
| chr2:46385187
|
GTT | G | 39 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | 254 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
3_prime_UTR_variant | MODIFIER | c.*539_*540delTT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 539 | INFO_REALIGN_3_PRIME | chr2 | 46385187 | ||||
| chr2:46385195
|
T | C | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*535T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 535 | chr2 | 46385195 | |||||
| chr2:46385262
|
G | C | 1 | a0002c0002t0014 | 2 | HG02145.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*602G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 602 | chr2 | 46385262 | |||||
| chr2:46385361
|
C | CTGAG | 5 | a0001c0001t0004a0001c0001t0030a0002c0002t0004others(2): Show | 18 | HG00741.hp2 HG02132.hp1 HG02257.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*703_*706dupGAGT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 707 | INFO_REALIGN_3_PRIME | chr2 | 46385361 | ||||
| chr2:46385450
|
C | T | 1 | a0003c0004t0032 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*790C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 790 | chr2 | 46385450 | |||||
| chr2:46385513
|
G | A | 9 | a0001c0001t0008a0003c0003t0006a0003c0003t0009others(6): Show | 25 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*853G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 853 | chr2 | 46385513 | |||||
| chr2:46385658
|
G | A | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*998G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 998 | chr2 | 46385658 | |||||
| chr2:46385867
|
A | C | 2 | a0001c0001t0017a0001c0001t0041 | 3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1207A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1207 | chr2 | 46385867 | |||||
| chr2:46385899
|
A | G | 3 | a0001c0001t0016a0001c0001t0034a0001c0010t0016 | 3 | HG00741.hp1 HG01175.hp2 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1239A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1239 | chr2 | 46385899 | |||||
| chr2:46385903
|
A | AG | 2 | a0002c0002t0015a0002c0002t0020 | 4 | HG02451.hp1 HG02965.hp2 HG03098.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1247dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1248 | INFO_REALIGN_3_PRIME | chr2 | 46385903 | ||||
| chr2:46385920
|
T | C | 1 | a0001c0001t0026 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1260T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1260 | chr2 | 46385920 | |||||
| chr2:46385932
|
C | T | 1 | a0001c0001t0044 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1272C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1272 | chr2 | 46385932 | |||||
| chr2:46385935
|
C | A | 1 | a0001c0001t0027 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1275C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1275 | chr2 | 46385935 | |||||
| chr2:46385936
|
G | A | 7 | a0003c0003t0006a0003c0003t0009a0003c0003t0033others(4): Show | 19 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1276G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1276 | chr2 | 46385936 | |||||
| chr2:46386005
|
A | T | 2 | a0001c0006t0029a0001c0006t0039 | 2 | HG01243.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1345A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1345 | chr2 | 46386005 | |||||
| chr2:46386033
|
C | G | 1 | a0002c0015t0031 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1373C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1373 | chr2 | 46386033 | |||||
| chr2:46386245
|
T | C | 1 | a0001c0001t0028 | 1 | NA19240.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1585T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1585 | chr2 | 46386245 | |||||
| chr2:46386274
|
C | T | 1 | a0002c0015t0031 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1614C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1614 | chr2 | 46386274 | |||||
| chr2:46386384
|
G | A | 1 | a0001c0001t0012 | 2 | HG01081.hp1 HG01106.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1724G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1724 | chr2 | 46386384 | |||||
| chr2:46386571
|
C | T | 1 | a0004c0007t0013 | 2 | HG02886.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1911C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 16/16 | 1911 | chr2 | 46386571 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:46298115
|
A | G | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+178A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298115 | ||||||
| chr2:46298116
|
G | A | 30 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(27): Show | 30 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+179G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298116 | ||||||
| chr2:46298210
|
G | A | 2 | a0001c0001t0002g0038a0001c0001t0002g0039 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.26+273G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298210 | ||||||
| chr2:46298252
|
G | C | 186 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(183): Show | 191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.26+315G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298252 | ||||||
| chr2:46298274
|
G | C | 2 | a0002c0002t0015g0189a0003c0003t0033g0188 | 2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+337G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298274 | ||||||
| chr2:46298406
|
A | T | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+469A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298406 | ||||||
| chr2:46298459
|
C | G | 4 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184others(1): Show | 4 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+522C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298459 | ||||||
| chr2:46298649
|
C | G | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+712C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298649 | ||||||
| chr2:46298677
|
G | T | 2 | a0001c0001t0005g0036a0003c0004t0009g0035 | 2 | HG02572.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.26+740G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298677 | ||||||
| chr2:46298793
|
C | T | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.26+856C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298793 | ||||||
| chr2:46298871
|
A | C | 1 | a0001c0001t0001g0318 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.26+934A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298871 | ||||||
| chr2:46298957
|
T | C | 148 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(145): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.26+1020T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46298957 | ||||||
| chr2:46299288
|
G | T | 31 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(28): Show | 31 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+1351G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299288 | ||||||
| chr2:46299300
|
G | A | 2 | a0002c0002t0015g0189a0003c0003t0033g0188 | 2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+1363G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299300 | ||||||
| chr2:46299358
|
C | T | 4 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184others(1): Show | 4 | HG00099.hp2 HG01433.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+1421C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299358 | ||||||
| chr2:46299376
|
A | G | 4 | a0001c0001t0010g0003a0001c0001t0010g0142a0001c0001t0010g0191others(1): Show | 5 | HG00673.hp2 HG01074.hp1 HG01099.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+1439A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299376 | ||||||
| chr2:46299433
|
A | C | 48 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(45): Show | 49 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(46): Show |
intron_variant | MODIFIER | c.26+1496A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299433 | ||||||
| chr2:46299482
|
C | A | 5 | a0001c0001t0004g0041a0001c0001t0004g0042a0002c0002t0001g0182others(2): Show | 5 | HG00741.hp2 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+1545C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299482 | ||||||
| chr2:46299614
|
AC | A | 15 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(12): Show | 16 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.26+1678delC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299614 | ||||||
| chr2:46299685
|
G | T | 1 | a0002c0002t0001g0181 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.26+1748G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299685 | ||||||
| chr2:46299861
|
T | C | 4 | a0001c0006t0029g0194a0002c0015t0031g0193a0003c0003t0006g0196others(1): Show | 4 | HG01175.hp1 HG01891.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+1924T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299861 | ||||||
| chr2:46299886
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+1949G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46299886 | ||||||
| chr2:46300097
|
TA | T | 30 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(27): Show | 30 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+2162delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46300097 | |||||
| chr2:46300165
|
C | A | 16 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(13): Show | 17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+2228C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300165 | ||||||
| chr2:46300308
|
T | A | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+2371T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300308 | ||||||
| chr2:46300349
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+2412C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300349 | ||||||
| chr2:46300401
|
G | C | 308 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(305): Show | 315 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
intron_variant | MODIFIER | c.26+2464G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300401 | ||||||
| chr2:46300453
|
A | T | 1 | a0002c0002t0005g0034 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.26+2516A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300453 | ||||||
| chr2:46300516
|
G | A | 2 | a0002c0002t0015g0189a0003c0003t0033g0188 | 2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+2579G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300516 | ||||||
| chr2:46300677
|
A | G | 193 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(190): Show | 198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.26+2740A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300677 | ||||||
| chr2:46300790
|
T | A | 1 | a0001c0001t0001g0197 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.26+2853T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46300790 | ||||||
| chr2:46301148
|
T | G | 33 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(30): Show | 33 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.26+3211T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301148 | ||||||
| chr2:46301223
|
A | T | 22 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(19): Show | 23 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.26+3286A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301223 | ||||||
| chr2:46301304
|
G | T | 1 | a0001c0001t0001g0197 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.26+3367G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301304 | ||||||
| chr2:46301382
|
C | A | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+3445C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301382 | ||||||
| chr2:46301475
|
G | A | 79 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(76): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(77): Show |
intron_variant | MODIFIER | c.26+3538G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301475 | ||||||
| chr2:46301552
|
G | A | 7 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(4): Show | 8 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+3615G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301552 | ||||||
| chr2:46301556
|
A | AAG | 142 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 144 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.26+3622_26+3623dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301556 | |||||
| chr2:46301578
|
GA | G | 19 | a0001c0001t0001g0178a0001c0001t0001g0300a0001c0001t0001g0303others(16): Show | 20 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.26+3659delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | |||||
| chr2:46301578
|
GAA | G | 99 | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0050others(96): Show | 101 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.26+3658_26+3659del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | |||||
| chr2:46301578
|
GAAA | G | 14 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0131others(11): Show | 14 | HG01884.hp2 HG01978.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.26+3657_26+3659del others(3): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | |||||
| chr2:46301578
|
GAAAA | G | 22 | a0001c0001t0001g0015a0001c0001t0005g0025a0001c0001t0005g0028others(19): Show | 22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+3656_26+3659del others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301578 | |||||
| chr2:46301612
|
T | G | 3 | a0001c0001t0004g0041a0002c0002t0001g0182a0002c0002t0004g0040 | 3 | HG00741.hp2 HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.26+3675T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301612 | ||||||
| chr2:46301709
|
G | A | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.26+3772G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301709 | ||||||
| chr2:46301746
|
T | C | 1 | a0001c0001t0011g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.26+3809T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301746 | ||||||
| chr2:46301822
|
T | A | 79 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(76): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(77): Show |
intron_variant | MODIFIER | c.26+3885T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46301822 | ||||||
| chr2:46301824
|
G | GA | 30 | a0001c0001t0001g0009a0001c0001t0001g0049a0001c0001t0001g0050others(27): Show | 31 | HG00673.hp2 HG00741.hp2 HG01515.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+3902dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301824 | |||||
| chr2:46301824
|
G | GAA | 73 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(70): Show | 74 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(71): Show |
intron_variant | MODIFIER | c.26+3901_26+3902dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46301824 | |||||
| chr2:46302032
|
T | C | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.26+4095T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302032 | ||||||
| chr2:46302112
|
T | TTC | 29 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(26): Show | 30 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.26+4181_26+4182dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302112 | |||||
| chr2:46302118
|
C | CTCTCTGT others(7): Show |
1 | a0001c0001t0002g0059 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.26+4182_26+4183ins others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
C | CTCTGTGT others(1): Show |
5 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(2): Show | 5 | HG00735.hp1 HG01257.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
C | CTCTGTGT others(3): Show |
66 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(63): Show | 67 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(64): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
C | CTCTGTGT others(5): Show |
6 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0121others(3): Show | 6 | HG01168.hp2 HG01993.hp1 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+4182_26+4183ins others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
C | CTCTGTGT others(7): Show |
1 | a0001c0001t0016g0125 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.26+4182_26+4183ins others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
C | CTGTGTGT others(3): Show |
1 | a0001c0001t0001g0143 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.26+4204_26+4213dup others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
CTG | C | 116 | a0001c0001t0001g0006a0001c0001t0001g0190a0001c0001t0001g0199others(113): Show | 118 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.26+4212_26+4213del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302118
|
CTGTGTG | C | 7 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(4): Show | 7 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(4): Show |
intron_variant | MODIFIER | c.26+4208_26+4213del others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302118 | |||||
| chr2:46302120
|
G | C | 82 | a0001c0001t0001g0004a0001c0001t0001g0049a0001c0001t0001g0050others(79): Show | 86 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(83): Show |
intron_variant | MODIFIER | c.26+4183G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302120 | ||||||
| chr2:46302122
|
G | C | 63 | a0001c0001t0001g0004a0001c0001t0001g0140a0001c0001t0001g0144others(60): Show | 67 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(64): Show |
intron_variant | MODIFIER | c.26+4185G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302122 | ||||||
| chr2:46302124
|
G | GTTTGTT | 3 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184 | 3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+4188_26+4189ins others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302124 | |||||
| chr2:46302126
|
G | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(2): Show | 5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+4189G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302126 | ||||||
| chr2:46302128
|
G | A | 1 | a0001c0001t0002g0060 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.26+4191G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302128 | ||||||
| chr2:46302149
|
T | C | 4 | a0001c0001t0011g0136a0001c0001t0011g0138a0001c0001t0026g0288others(1): Show | 4 | HG02717.hp2 HG03225.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+4212T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302149 | ||||||
| chr2:46302160
|
C | CG | 29 | a0001c0001t0001g0175a0001c0001t0001g0177a0001c0001t0001g0273others(26): Show | 29 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.26+4234dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302160 | |||||
| chr2:46302163
|
G | C | 78 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(75): Show | 79 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.26+4226G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302163 | ||||||
| chr2:46302163
|
G | T | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+4226G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302163 | ||||||
| chr2:46302291
|
T | C | 3 | a0001c0001t0011g0136a0001c0001t0011g0138a0003c0004t0021g0137 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+4354T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302291 | ||||||
| chr2:46302445
|
G | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4508G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302445 | ||||||
| chr2:46302645
|
C | A | 4 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0178others(1): Show | 4 | HG02896.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+4708C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302645 | ||||||
| chr2:46302649
|
G | A | 2 | a0001c0001t0001g0140a0001c0001t0023g0139 | 2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+4712G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302649 | ||||||
| chr2:46302649
|
G | C | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4712G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302649 | ||||||
| chr2:46302698
|
T | G | 1 | a0001c0001t0001g0308 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.26+4761T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302698 | ||||||
| chr2:46302734
|
G | GA | 50 | a0001c0001t0001g0004a0001c0001t0001g0049a0001c0001t0001g0144others(47): Show | 52 | HG00408.hp2 HG00621.hp2 HG00741.hp1 others(49): Show |
intron_variant | MODIFIER | c.26+4821dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | |||||
| chr2:46302734
|
GA | G | 12 | a0001c0001t0001g0127a0001c0001t0001g0197a0001c0001t0001g0268others(9): Show | 12 | HG00673.hp1 HG01433.hp1 HG01515.hp1 others(9): Show |
intron_variant | MODIFIER | c.26+4821delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | |||||
| chr2:46302734
|
GAAAAAAA | G | 13 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0140others(10): Show | 14 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(11): Show |
intron_variant | MODIFIER | c.26+4815_26+4821del others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | |||||
| chr2:46302734
|
GAAAAAAA others(1): Show |
G | 75 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(72): Show | 76 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.26+4814_26+4821del others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | |||||
| chr2:46302734
|
GAAAAAAA others(5): Show |
G | 36 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(33): Show | 36 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.26+4810_26+4821del others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46302734 | |||||
| chr2:46302735
|
A | G | 1 | a0001c0001t0001g0271 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+4798A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302735 | ||||||
| chr2:46302800
|
G | A | 1 | a0002c0002t0005g0012 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+4863G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302800 | ||||||
| chr2:46302807
|
C | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+4870C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302807 | ||||||
| chr2:46302865
|
A | G | 2 | a0001c0001t0001g0140a0001c0001t0023g0139 | 2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+4928A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302865 | ||||||
| chr2:46302939
|
G | A | 70 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(67): Show | 71 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.26+5002G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46302939 | ||||||
| chr2:46303187
|
G | A | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+5250G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303187 | ||||||
| chr2:46303197
|
C | G | 3 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184 | 3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+5260C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303197 | ||||||
| chr2:46303253
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.26+5316G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303253 | ||||||
| chr2:46303370
|
A | G | 1 | a0001c0001t0002g0114 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.26+5433A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303370 | ||||||
| chr2:46303570
|
G | C | 1 | a0001c0001t0001g0207 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.26+5633G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303570 | ||||||
| chr2:46303792
|
G | A | 1 | a0002c0002t0001g0272 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.26+5855G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303792 | ||||||
| chr2:46303828
|
A | G | 6 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0116others(3): Show | 6 | HG01168.hp1 HG01257.hp2 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.26+5891A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303828 | ||||||
| chr2:46303919
|
C | T | 31 | a0001c0001t0001g0296a0001c0001t0001g0303a0001c0001t0001g0304others(28): Show | 32 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(29): Show |
intron_variant | MODIFIER | c.26+5982C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46303919 | ||||||
| chr2:46304044
|
C | T | 2 | a0001c0001t0001g0134a0003c0004t0006g0141 | 2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+6107C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304044 | ||||||
| chr2:46304264
|
A | G | 1 | a0001c0001t0001g0286 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.26+6327A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304264 | ||||||
| chr2:46304320
|
G | T | 10 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(7): Show | 10 | HG00738.hp1 HG01243.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.26+6383G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304320 | ||||||
| chr2:46304587
|
A | G | 4 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0002g0011others(1): Show | 4 | HG03491.hp1 HG03942.hp1 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+6650A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304587 | ||||||
| chr2:46304667
|
A | G | 66 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(63): Show | 68 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(65): Show |
intron_variant | MODIFIER | c.26+6730A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304667 | ||||||
| chr2:46304818
|
CTT | C | 16 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(13): Show | 17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+6884_26+6885del others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46304818 | |||||
| chr2:46304826
|
C | G | 23 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(20): Show | 23 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.26+6889C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46304826 | ||||||
| chr2:46305616
|
T | C | 3 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184 | 3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+7679T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305616 | ||||||
| chr2:46305717
|
T | TC | 310 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(307): Show | 317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.26+7786dupC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46305717 | |||||
| chr2:46305801
|
C | A | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+7864C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305801 | ||||||
| chr2:46305899
|
G | C | 1 | a0001c0001t0001g0070 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.26+7962G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46305899 | ||||||
| chr2:46306237
|
T | C | 123 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(120): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.26+8300T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306237 | ||||||
| chr2:46306413
|
T | G | 123 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(120): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.26+8476T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306413 | ||||||
| chr2:46306765
|
C | T | 1 | a0001c0001t0002g0117 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.26+8828C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306765 | ||||||
| chr2:46306768
|
T | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+8831T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306768 | ||||||
| chr2:46306864
|
G | A | 3 | a0001c0001t0001g0073a0001c0001t0002g0072a0001c0005t0001g0071 | 3 | HG00639.hp2 HG01261.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.26+8927G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306864 | ||||||
| chr2:46306957
|
A | G | 1 | a0001c0001t0004g0267 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.26+9020A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46306957 | ||||||
| chr2:46307046
|
C | A | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+9109C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307046 | ||||||
| chr2:46307081
|
T | C | 83 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(80): Show | 84 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(81): Show |
intron_variant | MODIFIER | c.26+9144T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307081 | ||||||
| chr2:46307089
|
G | A | 1 | a0001c0001t0001g0208 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.26+9152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307089 | ||||||
| chr2:46307091
|
A | G | 4 | a0001c0001t0005g0187a0001c0001t0018g0185a0001c0001t0036g0186others(1): Show | 4 | HG01433.hp1 HG01978.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+9154A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307091 | ||||||
| chr2:46307164
|
G | C | 1 | a0002c0002t0014g0044 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.26+9227G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307164 | ||||||
| chr2:46307199
|
A | G | 122 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(119): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.26+9262A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307199 | ||||||
| chr2:46307234
|
G | A | 3 | a0001c0001t0018g0185a0001c0001t0036g0186a0001c0001t0037g0184 | 3 | HG01433.hp1 HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.26+9297G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307234 | ||||||
| chr2:46307445
|
G | A | 1 | a0001c0001t0001g0271 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+9508G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307445 | ||||||
| chr2:46307524
|
G | C | 2 | a0001c0001t0040g0013a0002c0002t0005g0014 | 2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.26+9587G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307524 | ||||||
| chr2:46307677
|
T | C | 3 | a0001c0001t0040g0013a0002c0002t0005g0014a0002c0002t0043g0037 | 3 | HG02486.hp1 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.26+9740T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307677 | ||||||
| chr2:46307705
|
T | C | 1 | a0002c0002t0005g0016 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.26+9768T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307705 | ||||||
| chr2:46307716
|
G | A | 25 | a0001c0001t0001g0140a0001c0001t0001g0296a0001c0001t0005g0025others(22): Show | 25 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+9779G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307716 | ||||||
| chr2:46307764
|
G | A | 1 | a0001c0001t0001g0209 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.26+9827G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307764 | ||||||
| chr2:46307797
|
T | C | 2 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.26+9860T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307797 | ||||||
| chr2:46307861
|
T | A | 4 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0143others(1): Show | 4 | HG01928.hp2 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+9924T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307861 | ||||||
| chr2:46307862
|
C | A | 4 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0143others(1): Show | 4 | HG01928.hp2 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+9925C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46307862 | ||||||
| chr2:46308063
|
T | C | 1 | a0001c0001t0001g0300 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.26+10126T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308063 | ||||||
| chr2:46308117
|
G | T | 3 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0035g0064 | 3 | HG00735.hp1 HG01257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.26+10180G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308117 | ||||||
| chr2:46308131
|
C | T | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+10194C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308131 | ||||||
| chr2:46308377
|
G | A | 5 | a0001c0001t0005g0036a0002c0002t0019g0017a0002c0002t0020g0018others(2): Show | 5 | HG01109.hp1 HG02572.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+10440G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308377 | ||||||
| chr2:46308452
|
C | CT | 27 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(24): Show | 27 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.26+10523dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308452 | |||||
| chr2:46308460
|
T | G | 2 | a0001c0001t0001g0273a0002c0002t0015g0297 | 2 | HG02965.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.26+10523T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308460 | ||||||
| chr2:46308460
|
T | TGG | 46 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(43): Show | 46 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.26+10533_26+10534d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308460 | |||||
| chr2:46308460
|
T | TGGG | 25 | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0099others(22): Show | 25 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+10532_26+10534d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46308460 | |||||
| chr2:46308460
|
T | TTG | 6 | a0001c0001t0001g0002a0001c0001t0001g0075a0001c0001t0001g0076others(3): Show | 7 | HG01256.hp2 HG01258.hp2 HG01928.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+10523_26+10524i others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308460 | ||||||
| chr2:46308461
|
G | T | 2 | a0001c0001t0001g0134a0003c0004t0006g0141 | 2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+10524G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308461 | ||||||
| chr2:46308463
|
G | C | 7 | a0001c0001t0001g0197a0001c0001t0001g0210a0001c0001t0001g0211others(4): Show | 7 | HG00544.hp2 HG02523.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+10526G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308463 | ||||||
| chr2:46308495
|
T | A | 1 | a0001c0001t0001g0147 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.26+10558T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308495 | ||||||
| chr2:46308496
|
A | G | 33 | a0001c0001t0001g0296a0001c0001t0001g0303a0001c0001t0001g0304others(30): Show | 34 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.26+10559A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308496 | ||||||
| chr2:46308496
|
A | T | 3 | a0001c0001t0001g0134a0001c0001t0005g0187a0003c0004t0006g0141 | 3 | HG01884.hp2 HG01978.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.26+10559A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308496 | ||||||
| chr2:46308503
|
AT | A | 40 | a0001c0001t0001g0134a0001c0001t0001g0296a0001c0001t0001g0303others(37): Show | 41 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(38): Show |
intron_variant | MODIFIER | c.26+10567delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308503 | ||||||
| chr2:46308523
|
A | G | 1 | a0001c0001t0001g0266 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.26+10586A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308523 | ||||||
| chr2:46308595
|
T | G | 3 | a0001c0001t0011g0136a0001c0001t0011g0138a0003c0004t0021g0137 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+10658T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308595 | ||||||
| chr2:46308644
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.26+10707G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308644 | ||||||
| chr2:46308745
|
T | C | 2 | a0001c0001t0001g0148a0002c0002t0001g0181 | 2 | NA19005.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.26+10808T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308745 | ||||||
| chr2:46308785
|
C | A | 191 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(188): Show | 196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.26+10848C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308785 | ||||||
| chr2:46308836
|
A | G | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.26+10899A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308836 | ||||||
| chr2:46308933
|
G | A | 23 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(20): Show | 23 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.26+10996G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46308933 | ||||||
| chr2:46309036
|
G | C | 8 | a0001c0001t0001g0134a0001c0001t0005g0187a0001c0001t0011g0136others(5): Show | 8 | HG01884.hp2 HG01978.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+11099G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309036 | ||||||
| chr2:46309056
|
G | A | 6 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(3): Show | 6 | HG02055.hp2 HG02647.hp1 HG03491.hp1 others(3): Show |
intron_variant | MODIFIER | c.26+11119G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309056 | ||||||
| chr2:46309258
|
A | T | 1 | a0001c0001t0001g0300 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.26+11321A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309258 | ||||||
| chr2:46309603
|
A | G | 1 | a0001c0001t0001g0308 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.26+11666A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309603 | ||||||
| chr2:46309620
|
G | T | 1 | a0001c0001t0004g0264 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.26+11683G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309620 | ||||||
| chr2:46309686
|
C | T | 2 | a0001c0001t0001g0203a0001c0001t0001g0285 | 2 | HG02080.hp2 HG02155.hp1 |
intron_variant | MODIFIER | c.26+11749C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309686 | ||||||
| chr2:46309689
|
A | G | 2 | a0001c0001t0001g0113a0002c0002t0001g0115 | 2 | HG00408.hp1 HG02056.hp2 |
intron_variant | MODIFIER | c.26+11752A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309689 | ||||||
| chr2:46309812
|
A | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0123a0003c0003t0006g0069 | 3 | HG01256.hp1 HG01891.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.26+11875A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309812 | ||||||
| chr2:46309917
|
C | T | 76 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(73): Show | 77 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(74): Show |
intron_variant | MODIFIER | c.26+11980C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309917 | ||||||
| chr2:46309952
|
T | G | 3 | a0001c0001t0011g0136a0001c0001t0011g0138a0003c0004t0021g0137 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12015T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309952 | ||||||
| chr2:46309970
|
C | A | 22 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(19): Show | 22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+12033C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46309970 | ||||||
| chr2:46310000
|
A | G | 2 | a0003c0003t0006g0306a0004c0007t0013g0172 | 2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.26+12063A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310000 | ||||||
| chr2:46310008
|
C | G | 1 | a0002c0014t0005g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.26+12071C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310008 | ||||||
| chr2:46310126
|
G | C | 3 | a0001c0001t0011g0136a0001c0001t0011g0138a0003c0004t0021g0137 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12189G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310126 | ||||||
| chr2:46310151
|
C | T | 16 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(13): Show | 17 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.26+12214C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310151 | ||||||
| chr2:46310214
|
A | ACTTTGTC others(41): Show |
1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+12305_26+12352d others(50): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46310214 | |||||
| chr2:46310300
|
G | T | 1 | a0001c0001t0004g0267 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.26+12363G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310300 | ||||||
| chr2:46310353
|
G | C | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.26+12416G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310353 | ||||||
| chr2:46310450
|
T | G | 5 | a0001c0001t0001g0128a0001c0001t0002g0129a0001c0001t0018g0185others(2): Show | 5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+12513T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310450 | ||||||
| chr2:46310465
|
A | G | 124 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(121): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.26+12528A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310465 | ||||||
| chr2:46310629
|
T | G | 3 | a0001c0001t0011g0136a0001c0001t0011g0138a0003c0004t0021g0137 | 3 | HG02717.hp2 HG03225.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.26+12692T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310629 | ||||||
| chr2:46310633
|
C | T | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+12696C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310633 | ||||||
| chr2:46310652
|
C | T | 1 | a0001c0001t0001g0284 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.26+12715C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310652 | ||||||
| chr2:46310669
|
A | G | 8 | a0001c0001t0001g0134a0001c0001t0005g0187a0001c0001t0011g0136others(5): Show | 8 | HG01884.hp2 HG01978.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+12732A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310669 | ||||||
| chr2:46310671
|
C | G | 5 | a0001c0001t0001g0128a0001c0001t0002g0129a0001c0001t0018g0185others(2): Show | 5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+12734C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310671 | ||||||
| chr2:46310696
|
T | A | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.26+12759T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310696 | ||||||
| chr2:46310756
|
T | C | 1 | a0002c0002t0005g0012 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+12819T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310756 | ||||||
| chr2:46310885
|
C | CT | 48 | a0001c0001t0001g0004a0001c0001t0001g0144a0001c0001t0001g0145others(45): Show | 50 | HG00408.hp2 HG00621.hp2 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.26+12957dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46310885 | |||||
| chr2:46310894
|
T | A | 1 | a0001c0001t0001g0208 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.26+12957T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310894 | ||||||
| chr2:46310899
|
C | T | 3 | a0001c0001t0001g0262a0001c0001t0001g0300a0001c0001t0030g0056 | 3 | HG01074.hp2 HG02129.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.26+12962C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310899 | ||||||
| chr2:46310909
|
C | T | 29 | a0001c0001t0001g0296a0001c0001t0001g0303a0001c0001t0001g0304others(26): Show | 30 | HG00099.hp2 HG00673.hp2 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.26+12972C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46310909 | ||||||
| chr2:46311201
|
G | T | 7 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(4): Show | 8 | HG00099.hp2 HG00673.hp2 HG01074.hp1 others(5): Show |
intron_variant | MODIFIER | c.26+13264G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311201 | ||||||
| chr2:46311295
|
T | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+13358T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311295 | ||||||
| chr2:46311389
|
G | A | 2 | a0001c0001t0001g0140a0001c0001t0023g0139 | 2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+13452G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311389 | ||||||
| chr2:46311426
|
T | A | 17 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(14): Show | 18 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+13489T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311426 | ||||||
| chr2:46311481
|
T | C | 1 | a0001c0001t0007g0270 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.26+13544T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311481 | ||||||
| chr2:46311618
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.26+13681A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311618 | ||||||
| chr2:46311655
|
G | A | 93 | a0001c0001t0001g0006a0001c0001t0001g0190a0001c0001t0001g0197others(90): Show | 94 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.26+13718G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311655 | ||||||
| chr2:46311709
|
T | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(2): Show | 5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+13772T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311709 | ||||||
| chr2:46311872
|
G | A | 6 | a0001c0001t0001g0151a0001c0001t0001g0175a0002c0002t0001g0149others(3): Show | 6 | HG02630.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+13935G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311872 | ||||||
| chr2:46311887
|
G | A | 1 | a0001c0001t0004g0010 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.26+13950G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311887 | ||||||
| chr2:46311920
|
G | A | 1 | a0001c0001t0037g0184 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.26+13983G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311920 | ||||||
| chr2:46311958
|
C | A | 1 | a0001c0001t0044g0213 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.26+14021C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311958 | ||||||
| chr2:46311958
|
C | T | 22 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(19): Show | 22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+14021C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46311958 | ||||||
| chr2:46312005
|
G | T | 2 | a0001c0001t0001g0140a0001c0001t0023g0139 | 2 | HG03130.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.26+14068G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312005 | ||||||
| chr2:46312095
|
T | C | 1 | a0001c0001t0001g0259 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.26+14158T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312095 | ||||||
| chr2:46312164
|
G | A | 1 | a0001c0001t0001g0271 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.26+14227G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312164 | ||||||
| chr2:46312327
|
G | A | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+14390G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312327 | ||||||
| chr2:46312497
|
CTATTA | C | 5 | a0001c0001t0004g0041a0001c0001t0004g0042a0002c0002t0001g0182others(2): Show | 5 | HG00741.hp2 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+14562_26+14566d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46312497 | |||||
| chr2:46312552
|
T | A | 1 | a0001c0001t0004g0010 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.26+14615T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312552 | ||||||
| chr2:46312617
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.26+14680T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312617 | ||||||
| chr2:46312663
|
C | CT | 7 | a0001c0001t0001g0128a0001c0001t0001g0134a0001c0001t0002g0129others(4): Show | 7 | HG01433.hp1 HG01884.hp2 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.26+14729dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46312663 | |||||
| chr2:46312673
|
C | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+14736C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46312673 | ||||||
| chr2:46313053
|
C | T | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(2): Show | 5 | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.26+15116C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313053 | ||||||
| chr2:46313233
|
C | G | 2 | a0001c0006t0029g0194a0002c0015t0031g0193 | 2 | HG03195.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.26+15296C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313233 | ||||||
| chr2:46313300
|
C | T | 1 | a0001c0001t0001g0258 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.26+15363C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313300 | ||||||
| chr2:46313309
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+15372G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313309 | ||||||
| chr2:46313310
|
G | A | 5 | a0001c0001t0001g0128a0001c0001t0002g0129a0001c0001t0018g0185others(2): Show | 5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+15373G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313310 | ||||||
| chr2:46313401
|
C | G | 1 | a0002c0002t0001g0115 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.26+15464C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313401 | ||||||
| chr2:46313438
|
G | GTTAT | 139 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0061others(136): Show | 142 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.26+15528_26+15531d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | |||||
| chr2:46313438
|
G | GTTATTTA others(1): Show |
9 | a0001c0001t0001g0079a0001c0001t0002g0038a0001c0001t0002g0039others(6): Show | 9 | HG01257.hp2 HG01258.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.26+15524_26+15531d others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | |||||
| chr2:46313438
|
G | GTTATTTA others(5): Show |
5 | a0001c0001t0001g0128a0001c0001t0002g0129a0001c0001t0018g0185others(2): Show | 5 | HG01433.hp1 HG02132.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.26+15520_26+15531d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | |||||
| chr2:46313438
|
GTTATTTA others(5): Show |
G | 1 | a0001c0001t0007g0171 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.26+15520_26+15531d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46313438 | |||||
| chr2:46313492
|
G | T | 4 | a0001c0001t0040g0013a0002c0002t0005g0012a0002c0002t0005g0014others(1): Show | 4 | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+15555G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313492 | ||||||
| chr2:46313569
|
G | A | 2 | a0001c0001t0001g0134a0003c0004t0006g0141 | 2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+15632G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313569 | ||||||
| chr2:46313584
|
G | A | 2 | a0001c0001t0005g0025a0001c0001t0041g0026 | 2 | HG02622.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.26+15647G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313584 | ||||||
| chr2:46313626
|
A | G | 2 | a0001c0001t0001g0134a0003c0004t0006g0141 | 2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.26+15689A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313626 | ||||||
| chr2:46313642
|
G | A | 1 | a0001c0001t0001g0299 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.26+15705G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313642 | ||||||
| chr2:46313676
|
T | G | 1 | a0002c0002t0005g0014 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.26+15739T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46313676 | ||||||
| chr2:46314006
|
A | T | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+16069A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314006 | ||||||
| chr2:46314037
|
T | C | 113 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(110): Show | 115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.26+16100T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314037 | ||||||
| chr2:46314053
|
C | CA | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+16121dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46314053 | |||||
| chr2:46314115
|
C | T | 1 | a0001c0001t0002g0261 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.26+16178C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314115 | ||||||
| chr2:46314147
|
C | A | 22 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(19): Show | 22 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.26+16210C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314147 | ||||||
| chr2:46314235
|
G | A | 21 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(18): Show | 22 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.26+16298G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314235 | ||||||
| chr2:46314715
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+16778G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46314715 | ||||||
| chr2:46315066
|
G | A | 3 | a0001c0001t0001g0050a0001c0001t0004g0051a0003c0003t0006g0057 | 3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.26+17129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315066 | ||||||
| chr2:46315168
|
G | A | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+17231G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315168 | ||||||
| chr2:46315269
|
C | T | 61 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(58): Show | 63 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(60): Show |
intron_variant | MODIFIER | c.26+17332C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315269 | ||||||
| chr2:46315310
|
C | T | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+17373C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315310 | ||||||
| chr2:46315854
|
T | C | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+17917T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315854 | ||||||
| chr2:46315942
|
T | C | 1 | a0002c0002t0005g0012 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+18005T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315942 | ||||||
| chr2:46315990
|
G | A | 1 | a0002c0002t0019g0017 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.26+18053G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46315990 | ||||||
| chr2:46316066
|
C | G | 1 | a0002c0002t0005g0012 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+18129C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316066 | ||||||
| chr2:46316182
|
A | AT | 30 | a0001c0001t0001g0296a0001c0001t0001g0303a0001c0001t0001g0304others(27): Show | 31 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.26+18254dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316182 | |||||
| chr2:46316199
|
C | T | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+18262C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316199 | ||||||
| chr2:46316256
|
AC | A | 17 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(14): Show | 18 | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+18322delC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316256 | |||||
| chr2:46316259
|
C | T | 46 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(43): Show | 47 | HG00099.hp2 HG00738.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.26+18322C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316259 | ||||||
| chr2:46316366
|
C | G | 3 | a0001c0001t0001g0050a0001c0001t0004g0051a0003c0003t0006g0057 | 3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.26+18429C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316366 | ||||||
| chr2:46316541
|
A | G | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26+18604A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316541 | ||||||
| chr2:46316639
|
A | G | 2 | a0001c0001t0005g0187a0003c0004t0006g0141 | 2 | HG01884.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.26+18702A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316639 | ||||||
| chr2:46316641
|
A | C | 2 | a0001c0001t0005g0187a0003c0004t0006g0141 | 2 | HG01884.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.26+18704A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316641 | ||||||
| chr2:46316673
|
T | C | 1 | a0001c0001t0001g0274 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.26+18736T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316673 | ||||||
| chr2:46316677
|
G | A | 1 | a0001c0001t0001g0286 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.26+18740G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316677 | ||||||
| chr2:46316704
|
G | A | 3 | a0001c0001t0040g0013a0002c0002t0005g0014a0002c0002t0043g0037 | 3 | HG02486.hp1 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.26+18767G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316704 | ||||||
| chr2:46316759
|
G | GT | 23 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(20): Show | 24 | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.26+18828dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46316759 | |||||
| chr2:46316855
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.26+18918T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316855 | ||||||
| chr2:46316857
|
G | A | 1 | a0001c0001t0001g0200 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.26+18920G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316857 | ||||||
| chr2:46316888
|
T | G | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+18951T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46316888 | ||||||
| chr2:46317231
|
T | G | 4 | a0001c0001t0040g0013a0002c0002t0005g0012a0002c0002t0005g0014others(1): Show | 4 | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+19294T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317231 | ||||||
| chr2:46317232
|
T | C | 1 | a0002c0014t0005g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.26+19295T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317232 | ||||||
| chr2:46317267
|
G | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+19330G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317267 | ||||||
| chr2:46317382
|
T | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.26+19445T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317382 | ||||||
| chr2:46317394
|
C | T | 25 | a0001c0001t0001g0296a0001c0001t0005g0025a0001c0001t0005g0028others(22): Show | 25 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.26+19457C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317394 | ||||||
| chr2:46317476
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.26+19539G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317476 | ||||||
| chr2:46317548
|
A | G | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.26+19611A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317548 | ||||||
| chr2:46317657
|
A | G | 4 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0178others(1): Show | 4 | HG02896.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+19720A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317657 | ||||||
| chr2:46317804
|
C | T | 1 | a0001c0001t0003g0257 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.26+19867C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317804 | ||||||
| chr2:46317805
|
G | A | 2 | a0001c0001t0001g0081a0001c0001t0001g0082 | 2 | HG01346.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.26+19868G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317805 | ||||||
| chr2:46317846
|
G | A | 4 | a0001c0001t0001g0134a0002c0002t0005g0012a0002c0002t0043g0037others(1): Show | 4 | HG01884.hp2 HG02055.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+19909G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317846 | ||||||
| chr2:46317922
|
C | A | 1 | a0001c0001t0001g0285 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.26+19985C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46317922 | ||||||
| chr2:46318097
|
C | T | 1 | a0001c0001t0001g0256 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.26+20160C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318097 | ||||||
| chr2:46318099
|
T | C | 107 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(104): Show | 108 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(105): Show |
intron_variant | MODIFIER | c.26+20162T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318099 | ||||||
| chr2:46318181
|
T | TAC | 58 | a0001c0001t0001g0004a0001c0001t0001g0143a0001c0001t0001g0144others(55): Show | 61 | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(58): Show |
intron_variant | MODIFIER | c.26+20260_26+20261d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | |||||
| chr2:46318181
|
T | TACAC | 28 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(25): Show | 29 | HG00741.hp2 HG01433.hp1 HG01884.hp2 others(26): Show |
intron_variant | MODIFIER | c.26+20258_26+20261d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | |||||
| chr2:46318181
|
T | TACACAC | 135 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 136 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.26+20256_26+20261d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | |||||
| chr2:46318181
|
T | TACACACA others(1): Show |
78 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(75): Show | 79 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.26+20254_26+20261d others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46318181 | |||||
| chr2:46318400
|
G | A | 158 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(155): Show | 160 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.26+20463G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318400 | ||||||
| chr2:46318424
|
C | T | 2 | a0001c0001t0001g0178a0001c0001t0004g0146 | 2 | HG03041.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.26+20487C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318424 | ||||||
| chr2:46318463
|
C | A | 1 | a0001c0001t0004g0214 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.26+20526C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318463 | ||||||
| chr2:46318489
|
T | C | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.26+20552T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318489 | ||||||
| chr2:46318495
|
G | A | 2 | a0001c0001t0007g0219a0002c0002t0019g0027 | 2 | HG01255.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.26+20558G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318495 | ||||||
| chr2:46318584
|
G | A | 5 | a0001c0001t0001g0303a0001c0001t0001g0304a0001c0001t0010g0003others(2): Show | 6 | HG00099.hp2 HG01074.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.26+20647G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318584 | ||||||
| chr2:46318679
|
G | T | 26 | a0001c0001t0001g0140a0001c0001t0001g0265a0001c0001t0001g0296others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.26+20742G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46318679 | ||||||
| chr2:46319088
|
A | C | 2 | a0001c0001t0002g0038a0001c0001t0002g0039 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.26+21151A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319088 | ||||||
| chr2:46319133
|
A | G | 1 | a0002c0002t0001g0124 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.26+21196A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319133 | ||||||
| chr2:46319177
|
A | G | 95 | a0001c0001t0001g0006a0001c0001t0001g0123a0001c0001t0001g0127others(92): Show | 96 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.26+21240A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319177 | ||||||
| chr2:46319347
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+21410G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319347 | ||||||
| chr2:46319586
|
A | G | 4 | a0001c0001t0001g0254a0001c0001t0001g0285a0001c0001t0010g0191others(1): Show | 4 | HG00673.hp2 HG02080.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.26+21649A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319586 | ||||||
| chr2:46319779
|
A | G | 2 | a0001c0001t0011g0136a0001c0001t0011g0138 | 2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.26+21842A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319779 | ||||||
| chr2:46319851
|
G | A | 35 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0015others(32): Show | 37 | HG00408.hp2 HG02074.hp1 HG02132.hp1 others(34): Show |
intron_variant | MODIFIER | c.26+21914G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319851 | ||||||
| chr2:46319930
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+21993G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319930 | ||||||
| chr2:46319932
|
G | C | 2 | a0001c0001t0001g0128a0001c0001t0002g0129 | 2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.26+21995G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46319932 | ||||||
| chr2:46320340
|
A | T | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.26+22403A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320340 | ||||||
| chr2:46320355
|
G | A | 247 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(244): Show | 250 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(247): Show |
intron_variant | MODIFIER | c.26+22418G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320355 | ||||||
| chr2:46320461
|
A | G | 1 | a0001c0001t0040g0013 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.26+22524A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320461 | ||||||
| chr2:46320521
|
G | T | 1 | a0001c0001t0002g0097 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.26+22584G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320521 | ||||||
| chr2:46320535
|
C | T | 2 | a0001c0001t0001g0315a0002c0002t0043g0037 | 2 | HG02630.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.26+22598C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320535 | ||||||
| chr2:46320584
|
T | C | 2 | a0002c0002t0015g0189a0003c0003t0033g0188 | 2 | HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26+22647T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320584 | ||||||
| chr2:46320656
|
T | C | 1 | a0001c0001t0010g0142 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26+22719T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320656 | ||||||
| chr2:46320793
|
T | C | 1 | a0001c0001t0001g0258 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.26+22856T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320793 | ||||||
| chr2:46320820
|
C | G | 18 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(15): Show | 18 | HG01175.hp1 HG02145.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.26+22883C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320820 | ||||||
| chr2:46320855
|
G | C | 1 | a0002c0002t0001g0155 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.26+22918G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320855 | ||||||
| chr2:46320894
|
A | G | 1 | a0002c0002t0005g0012 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26+22957A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320894 | ||||||
| chr2:46320925
|
C | G | 191 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(188): Show | 196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.26+22988C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320925 | ||||||
| chr2:46320969
|
A | G | 1 | a0003c0003t0006g0043 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.26+23032A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320969 | ||||||
| chr2:46320970
|
G | T | 154 | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0050others(151): Show | 156 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26+23033G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46320970 | ||||||
| chr2:46321061
|
C | T | 2 | a0001c0001t0001g0303a0001c0001t0001g0304 | 2 | NA18943.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.26+23124C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321061 | ||||||
| chr2:46321211
|
G | A | 300 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(297): Show | 306 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(303): Show |
intron_variant | MODIFIER | c.26+23274G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321211 | ||||||
| chr2:46321610
|
T | G | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.26+23673T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321610 | ||||||
| chr2:46321691
|
C | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+23754C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321691 | ||||||
| chr2:46321696
|
G | A | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26+23759G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321696 | ||||||
| chr2:46321756
|
G | A | 2 | a0001c0001t0001g0128a0001c0001t0002g0129 | 2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.26+23819G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321756 | ||||||
| chr2:46321767
|
A | C | 8 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0303others(5): Show | 9 | HG00735.hp1 HG01074.hp1 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.26+23830A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321767 | ||||||
| chr2:46321901
|
G | C | 177 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(174): Show | 182 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(179): Show |
intron_variant | MODIFIER | c.26+23964G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321901 | ||||||
| chr2:46321916
|
A | C | 1 | a0001c0001t0001g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.26+23979A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321916 | ||||||
| chr2:46321936
|
C | T | 4 | a0001c0001t0001g0080a0001c0001t0001g0110a0001c0001t0001g0118others(1): Show | 4 | HG01928.hp1 HG01978.hp2 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.26+23999C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321936 | ||||||
| chr2:46321990
|
G | A | 1 | a0001c0001t0001g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.26+24053G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46321990 | ||||||
| chr2:46322057
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.26+24120T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322057 | ||||||
| chr2:46322250
|
T | C | 42 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0061others(39): Show | 44 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(41): Show |
intron_variant | MODIFIER | c.26+24313T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322250 | ||||||
| chr2:46322287
|
G | C | 3 | a0001c0001t0001g0088a0001c0001t0001g0099a0001c0001t0001g0255 | 3 | HG01071.hp2 HG01981.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.26+24350G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322287 | ||||||
| chr2:46322394
|
C | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(83): Show | 88 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(85): Show |
intron_variant | MODIFIER | c.26+24457C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322394 | ||||||
| chr2:46322425
|
G | A | 1 | a0001c0001t0005g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.27-24448G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322425 | ||||||
| chr2:46322616
|
C | T | 1 | a0001c0001t0001g0252 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.27-24257C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322616 | ||||||
| chr2:46322696
|
G | A | 3 | a0001c0001t0001g0050a0001c0001t0004g0051a0003c0003t0006g0057 | 3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.27-24177G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322696 | ||||||
| chr2:46322732
|
T | C | 2 | a0001c0001t0001g0134a0005c0008t0042g0023 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-24141T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322732 | ||||||
| chr2:46322789
|
A | G | 17 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0224others(14): Show | 17 | HG01243.hp1 HG01891.hp2 HG01981.hp1 others(14): Show |
intron_variant | MODIFIER | c.27-24084A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322789 | ||||||
| chr2:46322829
|
C | T | 9 | a0001c0001t0004g0042a0001c0001t0004g0046a0001c0001t0004g0146others(6): Show | 9 | HG02145.hp2 HG02258.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-24044C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322829 | ||||||
| chr2:46322830
|
G | A | 1 | a0001c0001t0010g0003 | 2 | HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.27-24043G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322830 | ||||||
| chr2:46322920
|
G | A | 1 | a0002c0002t0001g0277 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.27-23953G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322920 | ||||||
| chr2:46322993
|
A | C | 4 | a0001c0001t0001g0134a0001c0001t0004g0041a0002c0002t0001g0182others(1): Show | 4 | HG00741.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-23880A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46322993 | ||||||
| chr2:46323036
|
A | C | 3 | a0001c0001t0001g0050a0001c0001t0004g0051a0003c0003t0006g0057 | 3 | HG02572.hp2 HG02717.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.27-23837A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323036 | ||||||
| chr2:46323189
|
G | A | 20 | a0001c0001t0001g0015a0001c0001t0001g0132a0001c0001t0001g0147others(17): Show | 20 | HG00408.hp2 HG01243.hp2 HG02074.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-23684G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323189 | ||||||
| chr2:46323215
|
A | C | 21 | a0001c0001t0001g0140a0001c0001t0001g0208a0001c0001t0001g0259others(18): Show | 21 | HG00738.hp1 HG01109.hp1 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.27-23658A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323215 | ||||||
| chr2:46323304
|
A | G | 3 | a0003c0003t0006g0306a0003c0004t0032g0170a0004c0007t0013g0172 | 3 | HG02886.hp1 HG03195.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.27-23569A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323304 | ||||||
| chr2:46323353
|
G | C | 172 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(169): Show | 175 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.27-23520G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323353 | ||||||
| chr2:46323377
|
C | T | 1 | a0001c0001t0001g0285 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.27-23496C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323377 | ||||||
| chr2:46323429
|
T | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-23444T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323429 | ||||||
| chr2:46323450
|
C | T | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-23423C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323450 | ||||||
| chr2:46323452
|
C | G | 13 | a0001c0001t0001g0293a0001c0001t0008g0001a0001c0001t0017g0302others(10): Show | 14 | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.27-23421C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323452 | ||||||
| chr2:46323579
|
G | C | 154 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(151): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.27-23294G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323579 | ||||||
| chr2:46323630
|
G | C | 131 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(128): Show | 134 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(131): Show |
intron_variant | MODIFIER | c.27-23243G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323630 | ||||||
| chr2:46323676
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.27-23197T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323676 | ||||||
| chr2:46323827
|
A | G | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-23046A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46323827 | ||||||
| chr2:46324089
|
C | T | 14 | a0001c0001t0001g0293a0001c0001t0008g0001a0001c0001t0017g0302others(11): Show | 15 | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.27-22784C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324089 | ||||||
| chr2:46324179
|
T | G | 269 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(266): Show | 275 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(272): Show |
intron_variant | MODIFIER | c.27-22694T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324179 | ||||||
| chr2:46324270
|
C | T | 1 | a0001c0001t0001g0311 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.27-22603C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324270 | ||||||
| chr2:46324329
|
G | A | 150 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(147): Show | 155 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.27-22544G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324329 | ||||||
| chr2:46324358
|
C | T | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-22515C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324358 | ||||||
| chr2:46324532
|
T | C | 1 | a0001c0001t0001g0273 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.27-22341T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324532 | ||||||
| chr2:46324560
|
A | G | 1 | a0001c0001t0001g0222 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.27-22313A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324560 | ||||||
| chr2:46324647
|
T | G | 1 | a0003c0003t0006g0043 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.27-22226T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324647 | ||||||
| chr2:46324801
|
T | A | 1 | a0001c0001t0001g0259 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.27-22072T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324801 | ||||||
| chr2:46324908
|
A | G | 116 | a0001c0001t0001g0006a0001c0001t0001g0070a0001c0001t0001g0073others(113): Show | 117 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.27-21965A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46324908 | ||||||
| chr2:46325033
|
G | C | 1 | a0001c0001t0001g0268 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.27-21840G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325033 | ||||||
| chr2:46325038
|
G | C | 143 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(140): Show | 146 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
intron_variant | MODIFIER | c.27-21835G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325038 | ||||||
| chr2:46325052
|
TGAGCTGA others(12): Show |
T | 1 | a0001c0001t0007g0270 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.27-21816_27-21798d others(21): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46325052 | |||||
| chr2:46325063
|
T | A | 2 | a0001c0001t0001g0134a0002c0002t0043g0037 | 2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-21810T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325063 | ||||||
| chr2:46325079
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.27-21794G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325079 | ||||||
| chr2:46325079
|
G | T | 1 | a0001c0001t0001g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-21794G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325079 | ||||||
| chr2:46325094
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-21779C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325094 | ||||||
| chr2:46325213
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-21660T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325213 | ||||||
| chr2:46325285
|
T | A | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-21588T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325285 | ||||||
| chr2:46325319
|
T | C | 29 | a0001c0001t0001g0004a0001c0001t0001g0080a0001c0001t0001g0098others(26): Show | 31 | HG01074.hp1 HG01074.hp2 HG01099.hp2 others(28): Show |
intron_variant | MODIFIER | c.27-21554T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325319 | ||||||
| chr2:46325344
|
T | C | 1 | a0001c0001t0001g0127 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.27-21529T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325344 | ||||||
| chr2:46325437
|
G | T | 1 | a0001c0001t0001g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-21436G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325437 | ||||||
| chr2:46325462
|
T | A | 265 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(262): Show | 271 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(268): Show |
intron_variant | MODIFIER | c.27-21411T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325462 | ||||||
| chr2:46325787
|
A | T | 53 | a0001c0001t0001g0070a0001c0001t0001g0073a0001c0001t0001g0075others(50): Show | 53 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
intron_variant | MODIFIER | c.27-21086A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325787 | ||||||
| chr2:46325872
|
G | A | 2 | a0001c0001t0001g0134a0002c0002t0043g0037 | 2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-21001G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325872 | ||||||
| chr2:46325905
|
A | G | 2 | a0001c0001t0001g0134a0005c0008t0042g0023 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-20968A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325905 | ||||||
| chr2:46325948
|
C | T | 8 | a0001c0001t0001g0091a0001c0001t0001g0197a0001c0001t0001g0200others(5): Show | 8 | HG00673.hp2 HG02080.hp2 NA18971.hp1 others(5): Show |
intron_variant | MODIFIER | c.27-20925C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46325948 | ||||||
| chr2:46326003
|
C | T | 1 | a0001c0001t0001g0271 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.27-20870C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326003 | ||||||
| chr2:46326024
|
A | C | 1 | a0001c0001t0022g0192 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.27-20849A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326024 | ||||||
| chr2:46326157
|
G | C | 4 | a0001c0001t0002g0072a0001c0001t0005g0187a0001c0005t0001g0071others(1): Show | 4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-20716G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326157 | ||||||
| chr2:46326321
|
TGGCTTAA others(5): Show |
T | 20 | a0001c0001t0001g0140a0001c0001t0001g0208a0001c0001t0001g0265others(17): Show | 20 | HG00738.hp1 HG00741.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-20548_27-20537d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46326321 | |||||
| chr2:46326374
|
G | A | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-20499G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326374 | ||||||
| chr2:46326413
|
G | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-20460G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326413 | ||||||
| chr2:46326588
|
G | A | 1 | a0002c0002t0001g0156 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.27-20285G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326588 | ||||||
| chr2:46326628
|
G | A | 1 | a0001c0001t0040g0013 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-20245G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326628 | ||||||
| chr2:46326710
|
C | A | 1 | a0002c0002t0001g0298 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.27-20163C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326710 | ||||||
| chr2:46326719
|
C | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-20154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326719 | ||||||
| chr2:46326811
|
T | C | 1 | a0001c0001t0001g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.27-20062T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326811 | ||||||
| chr2:46326827
|
A | G | 155 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(152): Show | 158 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.27-20046A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326827 | ||||||
| chr2:46326915
|
C | T | 2 | a0001c0001t0001g0099a0001c0001t0001g0255 | 2 | HG01981.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.27-19958C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326915 | ||||||
| chr2:46326965
|
C | T | 1 | a0001c0001t0001g0100 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.27-19908C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46326965 | ||||||
| chr2:46327004
|
C | T | 1 | a0001c0001t0002g0122 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.27-19869C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327004 | ||||||
| chr2:46327013
|
C | G | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-19860C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327013 | ||||||
| chr2:46327015
|
A | T | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-19858A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327015 | ||||||
| chr2:46327071
|
C | G | 23 | a0001c0001t0001g0134a0001c0001t0001g0265a0001c0001t0001g0293others(20): Show | 24 | HG00741.hp2 HG01175.hp1 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.27-19802C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327071 | ||||||
| chr2:46327113
|
G | T | 1 | a0001c0001t0001g0203 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.27-19760G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327113 | ||||||
| chr2:46327219
|
C | A | 1 | a0001c0001t0004g0267 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.27-19654C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327219 | ||||||
| chr2:46327328
|
A | G | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-19545A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327328 | ||||||
| chr2:46327389
|
G | GAGAA | 19 | a0001c0001t0001g0265a0001c0001t0001g0293a0001c0001t0004g0041others(16): Show | 19 | HG00741.hp2 HG01175.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-19483_27-19480d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46327389 | |||||
| chr2:46327394
|
C | G | 178 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(175): Show | 181 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.27-19479C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327394 | ||||||
| chr2:46327507
|
C | T | 273 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(270): Show | 279 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(276): Show |
intron_variant | MODIFIER | c.27-19366C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327507 | ||||||
| chr2:46327598
|
G | T | 1 | a0001c0001t0001g0282 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.27-19275G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327598 | ||||||
| chr2:46327908
|
C | T | 7 | a0001c0001t0001g0143a0001c0001t0001g0203a0001c0001t0001g0266others(4): Show | 7 | HG02056.hp1 HG02155.hp1 NA18942.hp1 others(4): Show |
intron_variant | MODIFIER | c.27-18965C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327908 | ||||||
| chr2:46327966
|
T | C | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-18907T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327966 | ||||||
| chr2:46327978
|
G | C | 2 | a0001c0001t0018g0185a0001c0001t0037g0184 | 2 | HG02132.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.27-18895G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46327978 | ||||||
| chr2:46328027
|
A | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-18846A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328027 | ||||||
| chr2:46328037
|
C | G | 1 | a0001c0001t0010g0142 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.27-18836C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328037 | ||||||
| chr2:46328066
|
A | G | 10 | a0001c0001t0001g0140a0001c0001t0001g0208a0001c0001t0001g0265others(7): Show | 10 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-18807A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328066 | ||||||
| chr2:46328082
|
A | G | 183 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(180): Show | 186 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
intron_variant | MODIFIER | c.27-18791A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328082 | ||||||
| chr2:46328124
|
A | G | 250 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(247): Show | 255 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(252): Show |
intron_variant | MODIFIER | c.27-18749A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328124 | ||||||
| chr2:46328205
|
C | T | 2 | a0001c0001t0001g0262a0002c0002t0001g0155 | 2 | HG02129.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.27-18668C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328205 | ||||||
| chr2:46328206
|
G | C | 3 | a0001c0001t0002g0230a0001c0001t0004g0267a0001c0001t0007g0231 | 3 | NA18951.hp1 NA18983.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.27-18667G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328206 | ||||||
| chr2:46328244
|
G | A | 1 | a0001c0001t0040g0013 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-18629G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328244 | ||||||
| chr2:46328255
|
G | C | 21 | a0001c0001t0001g0265a0001c0001t0001g0293a0001c0001t0001g0294others(18): Show | 21 | HG00741.hp2 HG01109.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.27-18618G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328255 | ||||||
| chr2:46328497
|
C | G | 1 | a0002c0002t0001g0115 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.27-18376C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328497 | ||||||
| chr2:46328531
|
T | C | 287 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(284): Show | 293 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(290): Show |
intron_variant | MODIFIER | c.27-18342T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328531 | ||||||
| chr2:46328568
|
A | G | 1 | a0001c0001t0001g0102 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.27-18305A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328568 | ||||||
| chr2:46328638
|
C | A | 9 | a0001c0001t0001g0293a0001c0001t0017g0302a0002c0002t0001g0149others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-18235C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328638 | ||||||
| chr2:46328732
|
G | A | 4 | a0001c0001t0002g0072a0001c0001t0005g0187a0001c0005t0001g0071others(1): Show | 4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-18141G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328732 | ||||||
| chr2:46328840
|
C | A | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-18033C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46328840 | ||||||
| chr2:46329016
|
C | G | 1 | a0002c0002t0001g0115 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.27-17857C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329016 | ||||||
| chr2:46329108
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0119 | 2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-17765G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329108 | ||||||
| chr2:46329206
|
G | A | 75 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0054others(72): Show | 77 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(74): Show |
intron_variant | MODIFIER | c.27-17667G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329206 | ||||||
| chr2:46329281
|
T | G | 3 | a0001c0001t0008g0001a0002c0002t0043g0037a0003c0004t0006g0141 | 4 | HG01884.hp2 HG02630.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-17592T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329281 | ||||||
| chr2:46329494
|
A | C | 278 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(275): Show | 284 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(281): Show |
intron_variant | MODIFIER | c.27-17379A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329494 | ||||||
| chr2:46329518
|
G | C | 2 | a0001c0001t0011g0136a0001c0001t0011g0138 | 2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.27-17355G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329518 | ||||||
| chr2:46329549
|
C | G | 5 | a0001c0001t0001g0294a0001c0001t0008g0045a0002c0002t0020g0018others(2): Show | 5 | HG01109.hp1 HG02970.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.27-17324C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329549 | ||||||
| chr2:46329560
|
G | A | 2 | a0001c0001t0010g0003a0002c0015t0031g0193 | 3 | HG01074.hp1 HG01099.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.27-17313G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329560 | ||||||
| chr2:46329619
|
C | T | 1 | a0001c0001t0017g0225 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.27-17254C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329619 | ||||||
| chr2:46329622
|
G | C | 256 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(253): Show | 262 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(259): Show |
intron_variant | MODIFIER | c.27-17251G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329622 | ||||||
| chr2:46329648
|
C | T | 1 | a0001c0001t0001g0252 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.27-17225C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329648 | ||||||
| chr2:46329684
|
C | T | 97 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(94): Show | 99 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(96): Show |
intron_variant | MODIFIER | c.27-17189C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329684 | ||||||
| chr2:46329685
|
A | G | 277 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(274): Show | 283 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(280): Show |
intron_variant | MODIFIER | c.27-17188A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329685 | ||||||
| chr2:46329690
|
T | C | 92 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(89): Show | 94 | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(91): Show |
intron_variant | MODIFIER | c.27-17183T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329690 | ||||||
| chr2:46329965
|
C | T | 1 | a0001c0001t0040g0013 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-16908C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329965 | ||||||
| chr2:46329981
|
T | C | 2 | a0001c0001t0001g0134a0005c0008t0042g0023 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-16892T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46329981 | ||||||
| chr2:46330029
|
T | C | 3 | a0001c0001t0008g0001a0002c0002t0043g0037a0003c0004t0006g0141 | 4 | HG01884.hp2 HG02630.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-16844T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330029 | ||||||
| chr2:46330283
|
A | G | 1 | a0001c0001t0001g0163 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.27-16590A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330283 | ||||||
| chr2:46330415
|
C | T | 3 | a0001c0001t0001g0200a0001c0001t0001g0254a0001c0001t0001g0285 | 3 | HG02080.hp2 NA18971.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.27-16458C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330415 | ||||||
| chr2:46330430
|
T | G | 1 | a0002c0002t0001g0155 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.27-16443T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330430 | ||||||
| chr2:46330444
|
C | G | 1 | a0004c0007t0013g0055 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.27-16429C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330444 | ||||||
| chr2:46330461
|
C | T | 173 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(170): Show | 177 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.27-16412C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330461 | ||||||
| chr2:46330476
|
G | A | 16 | a0001c0001t0001g0293a0001c0001t0004g0041a0001c0001t0017g0302others(13): Show | 16 | HG00741.hp2 HG01175.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-16397G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330476 | ||||||
| chr2:46330505
|
G | C | 151 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(148): Show | 154 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.27-16368G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330505 | ||||||
| chr2:46330508
|
C | G | 5 | a0001c0001t0001g0201a0001c0001t0003g0301a0002c0002t0001g0124others(2): Show | 5 | NA18979.hp2 NA19066.hp2 NA19075.hp1 others(2): Show |
intron_variant | MODIFIER | c.27-16365C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330508 | ||||||
| chr2:46330600
|
T | A | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-16273T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330600 | ||||||
| chr2:46330643
|
G | C | 2 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.27-16230G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330643 | ||||||
| chr2:46330719
|
C | T | 1 | a0001c0001t0001g0199 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.27-16154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330719 | ||||||
| chr2:46330823
|
G | T | 284 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(281): Show | 290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-16050G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330823 | ||||||
| chr2:46330851
|
G | A | 1 | a0001c0001t0035g0064 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.27-16022G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46330851 | ||||||
| chr2:46331069
|
T | G | 150 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(147): Show | 153 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.27-15804T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331069 | ||||||
| chr2:46331086
|
A | G | 285 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(282): Show | 291 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show |
intron_variant | MODIFIER | c.27-15787A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331086 | ||||||
| chr2:46331293
|
A | G | 156 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(153): Show | 159 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.27-15580A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331293 | ||||||
| chr2:46331402
|
T | C | 159 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(156): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
intron_variant | MODIFIER | c.27-15471T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331402 | ||||||
| chr2:46331527
|
G | C | 16 | a0001c0001t0001g0293a0001c0001t0004g0041a0001c0001t0017g0302others(13): Show | 16 | HG00741.hp2 HG02145.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-15346G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331527 | ||||||
| chr2:46331581
|
C | G | 2 | a0001c0001t0001g0062a0001c0001t0001g0063 | 2 | HG00735.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.27-15292C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331581 | ||||||
| chr2:46331651
|
CT | C | 6 | a0001c0001t0001g0294a0001c0001t0008g0045a0002c0002t0020g0018others(3): Show | 6 | HG01109.hp1 HG01175.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.27-15221delT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331651 | ||||||
| chr2:46331715
|
A | G | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-15158A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331715 | ||||||
| chr2:46331804
|
G | T | 2 | a0003c0004t0009g0020a0003c0004t0009g0022 | 2 | HG01081.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.27-15069G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331804 | ||||||
| chr2:46331850
|
C | T | 4 | a0001c0001t0002g0072a0001c0001t0005g0187a0001c0005t0001g0071others(1): Show | 4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-15023C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331850 | ||||||
| chr2:46331958
|
G | C | 19 | a0001c0001t0001g0293a0001c0001t0004g0041a0001c0001t0008g0001others(16): Show | 20 | HG00741.hp2 HG01884.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.27-14915G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331958 | ||||||
| chr2:46331967
|
G | A | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-14906G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331967 | ||||||
| chr2:46331968
|
T | C | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.27-14905T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46331968 | ||||||
| chr2:46332099
|
A | C | 13 | a0001c0001t0001g0140a0001c0001t0001g0265a0001c0001t0005g0028others(10): Show | 13 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-14774A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332099 | ||||||
| chr2:46332134
|
A | G | 1 | a0001c0001t0001g0199 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.27-14739A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332134 | ||||||
| chr2:46332135
|
G | T | 1 | a0001c0001t0002g0097 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.27-14738G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332135 | ||||||
| chr2:46332174
|
G | A | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.27-14699G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332174 | ||||||
| chr2:46332183
|
C | G | 4 | a0001c0001t0002g0072a0001c0001t0005g0187a0001c0005t0001g0071others(1): Show | 4 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-14690C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332183 | ||||||
| chr2:46332203
|
A | G | 1 | a0001c0001t0001g0100 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.27-14670A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332203 | ||||||
| chr2:46332238
|
C | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0119 | 2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-14635C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332238 | ||||||
| chr2:46332273
|
G | GAA | 47 | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0001t0001g0144others(44): Show | 48 | HG00408.hp2 HG00621.hp2 HG02071.hp1 others(45): Show |
intron_variant | MODIFIER | c.27-14586_27-14585d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | |||||
| chr2:46332273
|
G | GAAA | 13 | a0001c0001t0001g0050a0001c0001t0001g0151a0001c0001t0001g0175others(10): Show | 13 | HG00099.hp2 HG00639.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-14587_27-14585d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | |||||
| chr2:46332273
|
GAAAAA | G | 154 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(151): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.27-14589_27-14585d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332273 | |||||
| chr2:46332282
|
A | AAT | 7 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(4): Show | 7 | HG02056.hp2 NA18956.hp1 NA18985.hp1 others(4): Show |
intron_variant | MODIFIER | c.27-14590_27-14589i others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332282 | |||||
| chr2:46332289
|
T | A | 29 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0132others(26): Show | 30 | HG00544.hp2 HG01243.hp2 HG02074.hp1 others(27): Show |
intron_variant | MODIFIER | c.27-14584T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332289 | ||||||
| chr2:46332290
|
ACG | A | 8 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0210others(5): Show | 8 | HG00544.hp2 HG02135.hp2 HG03486.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-14582_27-14581d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332290 | ||||||
| chr2:46332291
|
C | A | 2 | a0001c0006t0029g0194a0002c0002t0005g0033 | 2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.27-14582C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332291 | ||||||
| chr2:46332291
|
C | CGT | 30 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(27): Show | 31 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(28): Show |
intron_variant | MODIFIER | c.27-14541_27-14540d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
C | CGTGT | 26 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(23): Show | 26 | HG00621.hp2 HG02071.hp1 HG02145.hp2 others(23): Show |
intron_variant | MODIFIER | c.27-14543_27-14540d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
C | CGTGTGT | 4 | a0001c0001t0001g0199a0002c0002t0003g0227a0002c0002t0003g0228others(1): Show | 4 | HG03098.hp1 NA18974.hp1 NA18975.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-14545_27-14540d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
C | T | 21 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0132others(18): Show | 22 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.27-14582C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332291 | ||||||
| chr2:46332291
|
CGT | C | 8 | a0001c0001t0001g0103a0001c0001t0001g0119a0001c0001t0001g0208others(5): Show | 8 | HG00099.hp1 HG01081.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-14541_27-14540d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
CGTGT | C | 3 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0008g0229 | 3 | HG00735.hp1 HG01109.hp2 HG01257.hp1 |
intron_variant | MODIFIER | c.27-14543_27-14540d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
CGTGTGTG others(3): Show |
C | 2 | a0001c0001t0001g0134a0002c0002t0043g0037 | 2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.27-14549_27-14540d others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
CGTGTGTG others(5): Show |
C | 8 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(5): Show | 9 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.27-14551_27-14540d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
CGTGTGTG others(7): Show |
C | 3 | a0001c0001t0017g0302a0002c0002t0001g0150a0002c0002t0001g0179 | 3 | HG02895.hp1 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.27-14553_27-14540d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332291
|
CGTGTGTG others(9): Show |
C | 12 | a0001c0001t0001g0293a0001c0001t0004g0041a0001c0001t0040g0013others(9): Show | 12 | HG00741.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.27-14555_27-14540d others(18): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332291 | |||||
| chr2:46332292
|
G | A | 23 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0132others(20): Show | 24 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.27-14581G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332292 | ||||||
| chr2:46332293
|
T | C | 21 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0132others(18): Show | 22 | HG01243.hp2 HG02074.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.27-14580T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332293 | ||||||
| chr2:46332294
|
G | A | 10 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0210others(7): Show | 10 | HG00544.hp2 HG02135.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-14579G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332294 | ||||||
| chr2:46332295
|
T | C | 10 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0210others(7): Show | 10 | HG00544.hp2 HG02135.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-14578T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332295 | ||||||
| chr2:46332332
|
G | A | 10 | a0001c0001t0001g0009a0001c0001t0001g0153a0001c0001t0001g0207others(7): Show | 10 | HG00280.hp1 HG01106.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-14541G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332332 | ||||||
| chr2:46332332
|
G | GTA | 16 | a0001c0001t0001g0070a0001c0001t0001g0075a0001c0001t0001g0076others(13): Show | 16 | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(13): Show |
intron_variant | MODIFIER | c.27-14539_27-14538d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTA | 30 | a0001c0001t0001g0093a0001c0001t0001g0104a0001c0001t0001g0107others(27): Show | 30 | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTATAT others(1): Show |
9 | a0001c0001t0001g0140a0001c0001t0005g0028a0001c0001t0005g0029others(6): Show | 9 | HG00738.hp1 HG01884.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTGTA | 64 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0073others(61): Show | 67 | HG00408.hp1 HG00544.hp1 HG01074.hp1 others(64): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTGTAT others(3): Show |
1 | a0001c0001t0007g0219 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.27-14540_27-14539i others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTGTGT others(1): Show |
16 | a0001c0001t0001g0078a0001c0001t0001g0106a0001c0001t0001g0269others(13): Show | 16 | HG00621.hp1 HG00673.hp2 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.27-14540_27-14539i others(10): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332332
|
G | GTGTGTGT others(3): Show |
3 | a0001c0001t0001g0201a0002c0002t0001g0277a0002c0002t0003g0251 | 3 | HG02071.hp2 NA19066.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.27-14540_27-14539i others(12): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332332 | |||||
| chr2:46332338
|
A | G | 1 | a0001c0001t0001g0210 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.27-14535A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332338 | ||||||
| chr2:46332441
|
G | A | 12 | a0001c0001t0001g0140a0001c0001t0001g0265a0001c0001t0005g0028others(9): Show | 12 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.27-14432G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332441 | ||||||
| chr2:46332592
|
C | T | 1 | a0001c0001t0040g0013 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.27-14281C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332592 | ||||||
| chr2:46332637
|
A | T | 255 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(252): Show | 260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.27-14236A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332637 | ||||||
| chr2:46332772
|
TCCTCTG | T | 153 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(150): Show | 156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.27-14098_27-14093d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46332772 | |||||
| chr2:46332837
|
G | A | 2 | a0001c0001t0023g0139a0002c0002t0005g0016 | 2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-14036G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332837 | ||||||
| chr2:46332945
|
T | A | 146 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(143): Show | 149 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.27-13928T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332945 | ||||||
| chr2:46332951
|
G | A | 53 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(50): Show | 54 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(51): Show |
intron_variant | MODIFIER | c.27-13922G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332951 | ||||||
| chr2:46332997
|
C | T | 1 | a0001c0001t0002g0247 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.27-13876C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46332997 | ||||||
| chr2:46333238
|
C | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-13635C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333238 | ||||||
| chr2:46333320
|
C | T | 1 | a0001c0001t0003g0249 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.27-13553C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333320 | ||||||
| chr2:46333505
|
T | A | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-13368T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333505 | ||||||
| chr2:46333505
|
T | G | 285 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(282): Show | 291 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show |
intron_variant | MODIFIER | c.27-13368T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333505 | ||||||
| chr2:46333612
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-13261T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333612 | ||||||
| chr2:46333763
|
G | A | 1 | a0003c0003t0006g0196 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.27-13110G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333763 | ||||||
| chr2:46333798
|
G | A | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.27-13075G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333798 | ||||||
| chr2:46333799
|
C | T | 2 | a0001c0001t0001g0106a0001c0011t0001g0105 | 2 | NA18747.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.27-13074C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333799 | ||||||
| chr2:46333848
|
T | C | 1 | a0001c0001t0001g0144 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.27-13025T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46333848 | ||||||
| chr2:46334063
|
A | G | 273 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(270): Show | 279 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(276): Show |
intron_variant | MODIFIER | c.27-12810A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334063 | ||||||
| chr2:46334064
|
A | G | 9 | a0001c0001t0001g0134a0001c0001t0004g0041a0001c0001t0008g0001others(6): Show | 10 | HG00741.hp2 HG01884.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.27-12809A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334064 | ||||||
| chr2:46334167
|
A | G | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.27-12706A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334167 | ||||||
| chr2:46334170
|
A | G | 284 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(281): Show | 290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-12703A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334170 | ||||||
| chr2:46334243
|
C | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.27-12630C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334243 | ||||||
| chr2:46334428
|
C | T | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-12445C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334428 | ||||||
| chr2:46334677
|
G | A | 284 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(281): Show | 290 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
intron_variant | MODIFIER | c.27-12196G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334677 | ||||||
| chr2:46334761
|
A | C | 24 | a0001c0001t0001g0054a0001c0001t0001g0178a0001c0001t0001g0208others(21): Show | 24 | HG01891.hp2 HG02055.hp1 HG02258.hp1 others(21): Show |
intron_variant | MODIFIER | c.27-12112A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334761 | ||||||
| chr2:46334770
|
A | G | 1 | a0001c0001t0007g0130 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.27-12103A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334770 | ||||||
| chr2:46334862
|
C | T | 1 | a0001c0001t0001g0169 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.27-12011C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334862 | ||||||
| chr2:46334863
|
G | A | 1 | a0001c0001t0001g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-12010G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334863 | ||||||
| chr2:46334903
|
T | C | 16 | a0001c0001t0001g0293a0001c0001t0004g0041a0001c0001t0008g0001others(13): Show | 17 | HG00741.hp2 HG01884.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.27-11970T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334903 | ||||||
| chr2:46334927
|
T | A | 1 | a0001c0001t0001g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.27-11946T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334927 | ||||||
| chr2:46334935
|
G | C | 1 | a0001c0001t0001g0061 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.27-11938G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46334935 | ||||||
| chr2:46335052
|
C | T | 318 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(315): Show | 325 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
intron_variant | MODIFIER | c.27-11821C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335052 | ||||||
| chr2:46335107
|
G | A | 2 | a0001c0001t0023g0139a0002c0002t0005g0016 | 2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-11766G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335107 | ||||||
| chr2:46335617
|
C | G | 1 | a0001c0001t0001g0286 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.27-11256C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335617 | ||||||
| chr2:46335723
|
C | G | 1 | a0001c0001t0001g0168 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.27-11150C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335723 | ||||||
| chr2:46335969
|
G | A | 1 | a0001c0010t0016g0309 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.27-10904G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46335969 | ||||||
| chr2:46336044
|
G | T | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-10829G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336044 | ||||||
| chr2:46336253
|
C | G | 283 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(280): Show | 289 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
intron_variant | MODIFIER | c.27-10620C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336253 | ||||||
| chr2:46336280
|
T | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-10593T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336280 | ||||||
| chr2:46336768
|
T | G | 2 | a0002c0002t0001g0182a0002c0002t0004g0040 | 2 | HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.27-10105T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336768 | ||||||
| chr2:46336805
|
C | G | 3 | a0001c0001t0001g0294a0001c0001t0008g0045a0003c0003t0009g0019 | 3 | HG01109.hp1 HG02970.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.27-10068C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336805 | ||||||
| chr2:46336846
|
G | A | 3 | a0001c0001t0001g0073a0001c0001t0001g0200a0001c0001t0010g0142 | 3 | HG01261.hp1 HG01496.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.27-10027G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336846 | ||||||
| chr2:46336999
|
C | G | 1 | a0001c0001t0001g0237 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.27-9874C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46336999 | ||||||
| chr2:46337013
|
T | C | 1 | a0003c0003t0006g0053 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.27-9860T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337013 | ||||||
| chr2:46337057
|
A | G | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-9816A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337057 | ||||||
| chr2:46337178
|
T | C | 9 | a0001c0001t0001g0293a0001c0001t0017g0302a0002c0002t0001g0149others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-9695T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337178 | ||||||
| chr2:46337272
|
C | T | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-9601C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337272 | ||||||
| chr2:46337444
|
C | A | 235 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(232): Show | 241 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(238): Show |
intron_variant | MODIFIER | c.27-9429C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337444 | ||||||
| chr2:46337826
|
C | T | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-9047C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337826 | ||||||
| chr2:46337864
|
T | C | 9 | a0001c0001t0004g0042a0001c0001t0004g0046a0001c0001t0004g0146others(6): Show | 9 | HG02258.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.27-9009T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337864 | ||||||
| chr2:46337952
|
T | G | 285 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(282): Show | 291 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show |
intron_variant | MODIFIER | c.27-8921T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46337952 | ||||||
| chr2:46338226
|
T | G | 3 | a0001c0001t0004g0046a0001c0001t0004g0146a0001c0001t0004g0307 | 3 | HG03041.hp2 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.27-8647T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338226 | ||||||
| chr2:46338383
|
T | C | 281 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(278): Show | 287 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(284): Show |
intron_variant | MODIFIER | c.27-8490T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338383 | ||||||
| chr2:46338449
|
A | G | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-8424A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338449 | ||||||
| chr2:46338503
|
A | T | 1 | a0001c0001t0001g0222 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.27-8370A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338503 | ||||||
| chr2:46338511
|
A | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-8362A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338511 | ||||||
| chr2:46338520
|
C | T | 9 | a0001c0001t0001g0073a0001c0001t0010g0142a0001c0001t0023g0139others(6): Show | 9 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.27-8353C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338520 | ||||||
| chr2:46338672
|
T | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-8201T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338672 | ||||||
| chr2:46338711
|
G | C | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-8162G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338711 | ||||||
| chr2:46338712
|
C | T | 2 | a0002c0002t0001g0052a0002c0002t0005g0012 | 2 | HG02055.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.27-8161C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338712 | ||||||
| chr2:46338721
|
G | A | 11 | a0001c0001t0001g0201a0001c0001t0003g0263a0001c0001t0003g0301others(8): Show | 11 | HG01081.hp1 HG01106.hp2 HG02071.hp2 others(8): Show |
intron_variant | MODIFIER | c.27-8152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338721 | ||||||
| chr2:46338841
|
G | A | 2 | a0002c0002t0001g0182a0002c0002t0004g0040 | 2 | HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.27-8032G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338841 | ||||||
| chr2:46338921
|
A | C | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-7952A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338921 | ||||||
| chr2:46338953
|
T | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7920T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338953 | ||||||
| chr2:46338954
|
A | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7919A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338954 | ||||||
| chr2:46338955
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-7918C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46338955 | ||||||
| chr2:46339048
|
A | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-7825A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339048 | ||||||
| chr2:46339071
|
G | A | 4 | a0001c0001t0023g0139a0002c0002t0005g0016a0002c0002t0019g0017others(1): Show | 4 | HG02965.hp1 HG03139.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-7802G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339071 | ||||||
| chr2:46339212
|
A | G | 46 | a0001c0001t0001g0050a0001c0001t0001g0073a0001c0001t0001g0134others(43): Show | 46 | HG00099.hp2 HG00639.hp2 HG01109.hp1 others(43): Show |
intron_variant | MODIFIER | c.27-7661A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339212 | ||||||
| chr2:46339218
|
T | G | 40 | a0001c0001t0001g0050a0001c0001t0001g0134a0001c0001t0001g0151others(37): Show | 40 | HG00099.hp2 HG00639.hp2 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.27-7655T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339218 | ||||||
| chr2:46339408
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-7465C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339408 | ||||||
| chr2:46339727
|
C | T | 2 | a0002c0002t0003g0241a0002c0002t0003g0250 | 2 | NA18964.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.27-7146C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46339727 | ||||||
| chr2:46340013
|
A | C | 1 | a0006c0009t0004g0223 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.27-6860A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340013 | ||||||
| chr2:46340088
|
A | G | 265 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(262): Show | 271 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(268): Show |
intron_variant | MODIFIER | c.27-6785A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340088 | ||||||
| chr2:46340100
|
C | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0119 | 2 | HG02602.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.27-6773C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340100 | ||||||
| chr2:46340130
|
C | T | 1 | a0002c0002t0001g0149 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.27-6743C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340130 | ||||||
| chr2:46340131
|
G | A | 1 | a0001c0001t0001g0259 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.27-6742G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340131 | ||||||
| chr2:46340137
|
G | T | 146 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(143): Show | 151 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.27-6736G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340137 | ||||||
| chr2:46340304
|
ACTGTCAG others(2): Show |
A | 10 | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0017g0302others(7): Show | 10 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-6565_27-6557del others(9): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46340304 | |||||
| chr2:46340760
|
C | T | 1 | a0001c0001t0016g0125 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.27-6113C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340760 | ||||||
| chr2:46340777
|
G | A | 13 | a0001c0001t0001g0073a0001c0001t0008g0045a0001c0001t0010g0142others(10): Show | 13 | HG01109.hp1 HG01261.hp1 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.27-6096G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340777 | ||||||
| chr2:46340945
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-5928C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340945 | ||||||
| chr2:46340972
|
A | G | 2 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.27-5901A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46340972 | ||||||
| chr2:46341010
|
G | A | 3 | a0001c0001t0001g0091a0001c0001t0001g0197a0001c0001t0007g0289 | 3 | NA18983.hp1 NA19004.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.27-5863G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341010 | ||||||
| chr2:46341080
|
A | G | 2 | a0001c0001t0001g0050a0002c0002t0020g0018 | 2 | HG02717.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.27-5793A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341080 | ||||||
| chr2:46341130
|
C | G | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-5743C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341130 | ||||||
| chr2:46341155
|
A | AT | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-5713dupT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46341155 | |||||
| chr2:46341163
|
C | T | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-5710C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341163 | ||||||
| chr2:46341219
|
T | C | 1 | a0001c0001t0001g0098 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.27-5654T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341219 | ||||||
| chr2:46341437
|
A | G | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-5436A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341437 | ||||||
| chr2:46341541
|
A | G | 2 | a0003c0004t0006g0141a0005c0008t0042g0023 | 2 | HG01884.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.27-5332A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341541 | ||||||
| chr2:46341745
|
T | G | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-5128T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341745 | ||||||
| chr2:46341878
|
A | G | 2 | a0003c0004t0006g0141a0005c0008t0042g0023 | 2 | HG01884.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.27-4995A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46341878 | ||||||
| chr2:46342082
|
C | A | 1 | a0001c0001t0035g0064 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.27-4791C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342082 | ||||||
| chr2:46342103
|
A | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-4770A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342103 | ||||||
| chr2:46342147
|
G | A | 4 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0004g0040others(1): Show | 4 | HG02055.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.27-4726G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342147 | ||||||
| chr2:46342199
|
C | T | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-4674C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342199 | ||||||
| chr2:46342307
|
A | G | 2 | a0001c0001t0040g0013a0003c0003t0006g0043 | 2 | HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-4566A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342307 | ||||||
| chr2:46342317
|
T | C | 8 | a0001c0001t0002g0072a0001c0001t0005g0187a0001c0001t0023g0139others(5): Show | 8 | HG00099.hp2 HG00639.hp2 HG01358.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-4556T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342317 | ||||||
| chr2:46342503
|
T | C | 4 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043others(1): Show | 4 | HG02630.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-4370T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342503 | ||||||
| chr2:46342631
|
G | A | 3 | a0001c0001t0001g0134a0002c0015t0031g0193a0003c0004t0006g0141 | 3 | HG01884.hp2 HG03195.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.27-4242G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342631 | ||||||
| chr2:46342717
|
A | C | 4 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043others(1): Show | 4 | HG02630.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.27-4156A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342717 | ||||||
| chr2:46342838
|
T | C | 2 | a0001c0001t0023g0139a0002c0002t0005g0016 | 2 | HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-4035T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342838 | ||||||
| chr2:46342850
|
T | G | 6 | a0001c0001t0004g0042a0001c0001t0004g0046a0001c0001t0004g0146others(3): Show | 6 | HG02258.hp1 HG02559.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-4023T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342850 | ||||||
| chr2:46342883
|
G | T | 6 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0001g0052others(3): Show | 6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-3990G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342883 | ||||||
| chr2:46342945
|
G | C | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-3928G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46342945 | ||||||
| chr2:46343051
|
CATAG | C | 6 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0001g0052others(3): Show | 6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-3814_27-3811del others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | 46343051 | |||||
| chr2:46343234
|
G | T | 1 | a0003c0004t0009g0020 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.27-3639G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343234 | ||||||
| chr2:46343356
|
G | A | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-3517G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343356 | ||||||
| chr2:46343569
|
C | G | 43 | a0001c0001t0001g0004a0001c0001t0001g0075a0001c0001t0001g0076others(40): Show | 44 | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.27-3304C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343569 | ||||||
| chr2:46343612
|
A | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.27-3261A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343612 | ||||||
| chr2:46343615
|
T | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0256 | 3 | HG01256.hp2 HG01258.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.27-3258T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343615 | ||||||
| chr2:46343801
|
G | A | 1 | a0001c0001t0008g0001 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.27-3072G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343801 | ||||||
| chr2:46343817
|
G | C | 10 | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0017g0302others(7): Show | 10 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.27-3056G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343817 | ||||||
| chr2:46343876
|
C | G | 6 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0001g0052others(3): Show | 6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-2997C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343876 | ||||||
| chr2:46343878
|
C | G | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-2995C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343878 | ||||||
| chr2:46343986
|
G | C | 18 | a0001c0001t0001g0054a0001c0001t0001g0085a0001c0001t0001g0086others(15): Show | 19 | HG02056.hp2 HG02622.hp2 HG02647.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-2887G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46343986 | ||||||
| chr2:46344040
|
A | T | 19 | a0001c0001t0001g0073a0001c0001t0001g0293a0001c0001t0001g0294others(16): Show | 19 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.27-2833A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344040 | ||||||
| chr2:46344065
|
G | T | 6 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0001g0052others(3): Show | 6 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.27-2808G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344065 | ||||||
| chr2:46344104
|
C | T | 13 | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0017g0302others(10): Show | 13 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.27-2769C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344104 | ||||||
| chr2:46344171
|
T | C | 274 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(271): Show | 280 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(277): Show |
intron_variant | MODIFIER | c.27-2702T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344171 | ||||||
| chr2:46344183
|
C | A | 3 | a0001c0001t0040g0013a0002c0002t0043g0037a0003c0003t0006g0043 | 3 | HG02630.hp2 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.27-2690C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344183 | ||||||
| chr2:46344274
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.27-2599C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344274 | ||||||
| chr2:46344435
|
G | C | 1 | a0001c0001t0002g0116 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.27-2438G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344435 | ||||||
| chr2:46344502
|
G | T | 1 | a0002c0002t0001g0155 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.27-2371G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344502 | ||||||
| chr2:46344677
|
G | C | 1 | a0001c0001t0001g0091 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.27-2196G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46344677 | ||||||
| chr2:46345013
|
G | A | 8 | a0001c0001t0001g0073a0001c0001t0010g0142a0001c0001t0040g0013others(5): Show | 8 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.27-1860G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345013 | ||||||
| chr2:46345047
|
C | T | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.27-1826C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345047 | ||||||
| chr2:46345093
|
T | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-1780T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345093 | ||||||
| chr2:46345123
|
C | T | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-1750C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345123 | ||||||
| chr2:46345180
|
A | T | 1 | a0002c0002t0020g0018 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.27-1693A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345180 | ||||||
| chr2:46345215
|
G | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.27-1658G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345215 | ||||||
| chr2:46345242
|
T | A | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.27-1631T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345242 | ||||||
| chr2:46345310
|
A | G | 79 | a0001c0001t0001g0054a0001c0001t0001g0066a0001c0001t0001g0067others(76): Show | 80 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.27-1563A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345310 | ||||||
| chr2:46345314
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.27-1559C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345314 | ||||||
| chr2:46345344
|
A | G | 2 | a0001c0001t0001g0128a0001c0001t0002g0129 | 2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.27-1529A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345344 | ||||||
| chr2:46345444
|
G | A | 3 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016 | 3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.27-1429G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345444 | ||||||
| chr2:46345564
|
C | A | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.27-1309C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345564 | ||||||
| chr2:46345625
|
G | A | 2 | a0001c0001t0040g0013a0002c0002t0043g0037 | 2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.27-1248G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345625 | ||||||
| chr2:46345942
|
G | T | 2 | a0001c0001t0040g0013a0002c0002t0043g0037 | 2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.27-931G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345942 | ||||||
| chr2:46345990
|
A | G | 1 | a0001c0001t0001g0147 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.27-883A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46345990 | ||||||
| chr2:46346065
|
A | G | 2 | a0002c0002t0003g0227a0002c0002t0003g0228 | 2 | NA18974.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.27-808A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346065 | ||||||
| chr2:46346071
|
C | T | 254 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(251): Show | 258 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(255): Show |
intron_variant | MODIFIER | c.27-802C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346071 | ||||||
| chr2:46346149
|
G | T | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.27-724G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346149 | ||||||
| chr2:46346160
|
C | T | 1 | a0002c0002t0003g0251 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.27-713C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346160 | ||||||
| chr2:46346256
|
T | C | 31 | a0001c0001t0001g0134a0001c0001t0001g0210a0001c0001t0001g0259others(28): Show | 32 | HG00544.hp2 HG01081.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.27-617T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346256 | ||||||
| chr2:46346371
|
G | A | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-502G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346371 | ||||||
| chr2:46346372
|
C | G | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-501C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346372 | ||||||
| chr2:46346373
|
G | C | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-500G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346373 | ||||||
| chr2:46346467
|
G | A | 1 | a0001c0001t0004g0307 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.27-406G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346467 | ||||||
| chr2:46346494
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.27-379G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346494 | ||||||
| chr2:46346547
|
C | T | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.27-326C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346547 | ||||||
| chr2:46346656
|
A | G | 1 | a0002c0002t0020g0018 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.27-217A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346656 | ||||||
| chr2:46346841
|
T | C | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-32T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346841 | ||||||
| chr2:46346844
|
C | T | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-29C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346844 | ||||||
| chr2:46346852
|
A | C | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-21A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346852 | ||||||
| chr2:46346854
|
C | A | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.27-19C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | chr2 | 46346854 | ||||||
| chr2:46347145
|
C | A | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+82C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347145 | ||||||
| chr2:46347146
|
A | G | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+83A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347146 | ||||||
| chr2:46347147
|
G | A | 1 | a0002c0002t0003g0227 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.217+84G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347147 | ||||||
| chr2:46347222
|
A | G | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.217+159A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347222 | ||||||
| chr2:46347306
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.217+243C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347306 | ||||||
| chr2:46347606
|
T | C | 8 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(5): Show | 9 | HG01109.hp1 HG02055.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.217+543T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347606 | ||||||
| chr2:46347699
|
C | A | 1 | a0001c0001t0001g0121 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.217+636C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347699 | ||||||
| chr2:46347758
|
C | A | 1 | a0001c0001t0001g0232 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.217+695C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347758 | ||||||
| chr2:46347847
|
G | A | 1 | a0001c0001t0001g0256 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.217+784G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347847 | ||||||
| chr2:46347872
|
C | T | 13 | a0001c0001t0001g0050a0001c0001t0004g0051a0001c0001t0023g0139others(10): Show | 13 | HG01175.hp1 HG01891.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.217+809C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46347872 | ||||||
| chr2:46348184
|
C | T | 3 | a0002c0002t0001g0156a0002c0002t0001g0158a0002c0002t0003g0226 | 3 | NA18973.hp1 NA18973.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.217+1121C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348184 | ||||||
| chr2:46348249
|
A | G | 84 | a0001c0001t0001g0054a0001c0001t0001g0078a0001c0001t0001g0079others(81): Show | 85 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.217+1186A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348249 | ||||||
| chr2:46348425
|
G | C | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.217+1362G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348425 | ||||||
| chr2:46348473
|
A | G | 2 | a0001c0001t0017g0225a0001c0001t0017g0302 | 2 | HG01243.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.217+1410A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348473 | ||||||
| chr2:46348592
|
C | A | 1 | a0001c0001t0001g0259 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.217+1529C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348592 | ||||||
| chr2:46348652
|
C | T | 1 | a0001c0001t0007g0270 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.217+1589C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348652 | ||||||
| chr2:46348659
|
C | T | 5 | a0001c0001t0001g0050a0001c0001t0004g0051a0001c0001t0023g0139others(2): Show | 5 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.217+1596C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348659 | ||||||
| chr2:46348697
|
G | A | 1 | a0001c0001t0017g0225 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.217+1634G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348697 | ||||||
| chr2:46348886
|
A | C | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.217+1823A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46348886 | ||||||
| chr2:46349033
|
C | G | 171 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(168): Show | 175 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(172): Show |
intron_variant | MODIFIER | c.217+1970C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349033 | ||||||
| chr2:46349103
|
A | G | 10 | a0001c0001t0001g0070a0001c0001t0001g0093a0001c0001t0001g0098others(7): Show | 10 | HG00099.hp1 HG00323.hp1 HG01256.hp1 others(7): Show |
intron_variant | MODIFIER | c.217+2040A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349103 | ||||||
| chr2:46349349
|
C | T | 177 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(174): Show | 181 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(178): Show |
intron_variant | MODIFIER | c.217+2286C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349349 | ||||||
| chr2:46349434
|
T | C | 182 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(179): Show | 186 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.217+2371T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349434 | ||||||
| chr2:46349557
|
T | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.217+2494T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349557 | ||||||
| chr2:46349755
|
G | T | 243 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(240): Show | 248 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.217+2692G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349755 | ||||||
| chr2:46349779
|
T | C | 5 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0004g0040others(2): Show | 5 | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.217+2716T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349779 | ||||||
| chr2:46349844
|
G | C | 5 | a0002c0002t0014g0044a0002c0002t0014g0048a0003c0004t0006g0195others(2): Show | 5 | HG01081.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.217+2781G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46349844 | ||||||
| chr2:46350023
|
T | C | 70 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(67): Show | 71 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.217+2960T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350023 | ||||||
| chr2:46350073
|
T | C | 255 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(252): Show | 260 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(257): Show |
intron_variant | MODIFIER | c.217+3010T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350073 | ||||||
| chr2:46350126
|
A | C | 257 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(254): Show | 262 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(259): Show |
intron_variant | MODIFIER | c.217+3063A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350126 | ||||||
| chr2:46350160
|
G | A | 264 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(261): Show | 269 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(266): Show |
intron_variant | MODIFIER | c.217+3097G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350160 | ||||||
| chr2:46350384
|
T | C | 1 | a0001c0001t0001g0210 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.217+3321T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350384 | ||||||
| chr2:46350505
|
G | A | 67 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(64): Show | 68 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.217+3442G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350505 | ||||||
| chr2:46350618
|
A | G | 1 | a0001c0001t0001g0244 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.217+3555A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350618 | ||||||
| chr2:46350667
|
A | G | 9 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(6): Show | 9 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.217+3604A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350667 | ||||||
| chr2:46350677
|
C | T | 2 | a0002c0014t0005g0024a0003c0004t0009g0035 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.217+3614C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350677 | ||||||
| chr2:46350692
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.217+3629C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350692 | ||||||
| chr2:46350693
|
G | A | 1 | a0001c0001t0030g0056 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.217+3630G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350693 | ||||||
| chr2:46350705
|
C | T | 3 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0043g0037 | 3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.217+3642C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350705 | ||||||
| chr2:46350725
|
A | G | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.217+3662A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350725 | ||||||
| chr2:46350728
|
A | G | 1 | a0001c0001t0001g0232 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.217+3665A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46350728 | ||||||
| chr2:46351049
|
A | G | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.217+3986A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351049 | ||||||
| chr2:46351076
|
C | T | 1 | a0001c0001t0002g0122 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.217+4013C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351076 | ||||||
| chr2:46351259
|
T | C | 147 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(144): Show | 149 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(146): Show |
intron_variant | MODIFIER | c.217+4196T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351259 | ||||||
| chr2:46351260
|
C | G | 264 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(261): Show | 268 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(265): Show |
intron_variant | MODIFIER | c.217+4197C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351260 | ||||||
| chr2:46351267
|
C | A | 1 | a0001c0001t0044g0213 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.217+4204C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351267 | ||||||
| chr2:46351303
|
C | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.217+4240C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351303 | ||||||
| chr2:46351312
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.217+4249T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351312 | ||||||
| chr2:46351391
|
T | G | 1 | a0002c0002t0001g0176 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.217+4328T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351391 | ||||||
| chr2:46351774
|
G | A | 71 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(68): Show | 72 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.218-4377G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351774 | ||||||
| chr2:46351785
|
G | T | 266 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(263): Show | 271 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(268): Show |
intron_variant | MODIFIER | c.218-4366G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351785 | ||||||
| chr2:46351920
|
G | T | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.218-4231G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351920 | ||||||
| chr2:46351984
|
G | A | 1 | a0001c0001t0002g0097 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.218-4167G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46351984 | ||||||
| chr2:46352134
|
A | G | 80 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0073others(77): Show | 81 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.218-4017A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352134 | ||||||
| chr2:46352143
|
G | A | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.218-4008G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352143 | ||||||
| chr2:46352177
|
C | G | 1 | a0001c0001t0035g0064 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.218-3974C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352177 | ||||||
| chr2:46352199
|
T | A | 1 | a0001c0001t0001g0300 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.218-3952T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352199 | ||||||
| chr2:46352209
|
T | C | 180 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(177): Show | 184 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(181): Show |
intron_variant | MODIFIER | c.218-3942T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352209 | ||||||
| chr2:46352270
|
A | G | 257 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(254): Show | 262 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(259): Show |
intron_variant | MODIFIER | c.218-3881A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352270 | ||||||
| chr2:46352404
|
A | G | 2 | a0001c0016t0005g0030a0002c0002t0020g0031 | 2 | HG02451.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.218-3747A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352404 | ||||||
| chr2:46352454
|
A | C | 1 | a0002c0002t0020g0018 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.218-3697A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352454 | ||||||
| chr2:46352469
|
G | A | 4 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016others(1): Show | 4 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-3682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352469 | ||||||
| chr2:46352519
|
G | A | 76 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(73): Show | 77 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.218-3632G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352519 | ||||||
| chr2:46352536
|
G | T | 73 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(70): Show | 74 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.218-3615G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352536 | ||||||
| chr2:46352580
|
A | G | 93 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0078others(90): Show | 95 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.218-3571A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352580 | ||||||
| chr2:46352591
|
C | T | 122 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(119): Show | 124 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(121): Show |
intron_variant | MODIFIER | c.218-3560C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352591 | ||||||
| chr2:46352659
|
G | C | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.218-3492G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352659 | ||||||
| chr2:46352708
|
A | G | 1 | a0001c0001t0001g0258 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.218-3443A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352708 | ||||||
| chr2:46352742
|
T | C | 54 | a0001c0001t0001g0009a0001c0001t0001g0078a0001c0001t0001g0079others(51): Show | 54 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.218-3409T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352742 | ||||||
| chr2:46352746
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.218-3405G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352746 | ||||||
| chr2:46352771
|
G | T | 1 | a0001c0001t0001g0009 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.218-3380G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352771 | ||||||
| chr2:46352852
|
C | G | 4 | a0001c0001t0001g0078a0001c0001t0001g0279a0001c0001t0001g0280others(1): Show | 4 | HG00621.hp1 HG00673.hp1 HG02080.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-3299C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46352852 | ||||||
| chr2:46353305
|
G | A | 265 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(262): Show | 270 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(267): Show |
intron_variant | MODIFIER | c.218-2846G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353305 | ||||||
| chr2:46353335
|
T | C | 243 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(240): Show | 248 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.218-2816T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353335 | ||||||
| chr2:46353337
|
T | C | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.218-2814T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353337 | ||||||
| chr2:46353420
|
G | A | 1 | a0001c0001t0005g0025 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.218-2731G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353420 | ||||||
| chr2:46353659
|
T | C | 2 | a0003c0003t0006g0043a0003c0003t0006g0306 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.218-2492T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353659 | ||||||
| chr2:46353684
|
G | A | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-2467G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353684 | ||||||
| chr2:46353760
|
T | C | 1 | a0001c0001t0001g0173 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.218-2391T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353760 | ||||||
| chr2:46353788
|
C | T | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-2363C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353788 | ||||||
| chr2:46353888
|
A | G | 8 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(5): Show | 8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.218-2263A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353888 | ||||||
| chr2:46353905
|
C | G | 1 | a0002c0002t0015g0189 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.218-2246C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353905 | ||||||
| chr2:46353935
|
C | G | 248 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(245): Show | 253 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(250): Show |
intron_variant | MODIFIER | c.218-2216C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353935 | ||||||
| chr2:46353948
|
C | T | 13 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(10): Show | 13 | HG01175.hp1 HG01884.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.218-2203C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46353948 | ||||||
| chr2:46354175
|
G | A | 1 | a0003c0003t0006g0154 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.218-1976G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354175 | ||||||
| chr2:46354185
|
T | G | 3 | a0001c0001t0001g0085a0003c0004t0008g0218a0004c0007t0013g0172 | 3 | HG02280.hp2 HG02886.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.218-1966T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354185 | ||||||
| chr2:46354300
|
G | A | 5 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0004g0040others(2): Show | 5 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.218-1851G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354300 | ||||||
| chr2:46354304
|
A | T | 1 | a0002c0015t0031g0193 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.218-1847A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354304 | ||||||
| chr2:46354314
|
C | G | 261 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(258): Show | 266 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(263): Show |
intron_variant | MODIFIER | c.218-1837C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354314 | ||||||
| chr2:46354391
|
C | A | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-1760C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354391 | ||||||
| chr2:46354405
|
T | A | 162 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(159): Show | 166 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(163): Show |
intron_variant | MODIFIER | c.218-1746T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354405 | ||||||
| chr2:46354441
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.218-1710G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354441 | ||||||
| chr2:46354496
|
A | C | 1 | a0001c0001t0008g0229 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.218-1655A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354496 | ||||||
| chr2:46354504
|
C | T | 251 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(248): Show | 256 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(253): Show |
intron_variant | MODIFIER | c.218-1647C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354504 | ||||||
| chr2:46354593
|
C | G | 251 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(248): Show | 256 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(253): Show |
intron_variant | MODIFIER | c.218-1558C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354593 | ||||||
| chr2:46354657
|
C | T | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.218-1494C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354657 | ||||||
| chr2:46354697
|
C | T | 4 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0004g0040others(1): Show | 4 | HG02055.hp2 HG02257.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.218-1454C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354697 | ||||||
| chr2:46354711
|
C | T | 1 | a0001c0001t0001g0296 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.218-1440C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354711 | ||||||
| chr2:46354870
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.218-1281C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354870 | ||||||
| chr2:46354880
|
C | G | 1 | a0001c0001t0001g0121 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.218-1271C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46354880 | ||||||
| chr2:46355039
|
C | T | 8 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(5): Show | 8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.218-1112C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355039 | ||||||
| chr2:46355218
|
G | A | 2 | a0001c0001t0001g0073a0001c0001t0010g0142 | 2 | HG01261.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.218-933G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355218 | ||||||
| chr2:46355243
|
G | A | 161 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(158): Show | 165 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.218-908G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355243 | ||||||
| chr2:46355396
|
A | G | 3 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0043g0037 | 3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.218-755A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355396 | ||||||
| chr2:46355517
|
G | T | 9 | a0001c0001t0028g0260a0002c0014t0005g0024a0003c0003t0006g0047others(6): Show | 9 | HG01175.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.218-634G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355517 | ||||||
| chr2:46355686
|
A | C | 1 | a0001c0001t0001g0269 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.218-465A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355686 | ||||||
| chr2:46355730
|
C | A | 5 | a0001c0001t0001g0050a0001c0001t0004g0051a0001c0001t0023g0139others(2): Show | 5 | HG02717.hp1 HG02965.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.218-421C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355730 | ||||||
| chr2:46355752
|
A | G | 166 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(163): Show | 170 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(167): Show |
intron_variant | MODIFIER | c.218-399A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46355752 | ||||||
| chr2:46356023
|
G | C | 3 | a0001c0001t0003g0263a0001c0001t0012g0094a0001c0001t0012g0109 | 3 | HG01081.hp1 HG01106.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.218-128G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356023 | ||||||
| chr2:46356048
|
A | T | 48 | a0001c0001t0001g0009a0001c0001t0001g0066a0001c0001t0001g0067others(45): Show | 48 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.218-103A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356048 | ||||||
| chr2:46356065
|
C | G | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.218-86C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356065 | ||||||
| chr2:46356082
|
T | C | 10 | a0001c0001t0001g0006a0001c0001t0001g0123a0001c0001t0001g0190others(7): Show | 11 | HG00544.hp1 HG01952.hp1 HG01993.hp1 others(8): Show |
intron_variant | MODIFIER | c.218-69T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356082 | ||||||
| chr2:46356096
|
C | A | 260 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(257): Show | 265 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.218-55C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356096 | ||||||
| chr2:46356138
|
C | CCG | 173 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(170): Show | 177 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.218-12_218-11insGC | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | 46356138 | |||||
| chr2:46356139
|
C | A | 1 | a0001c0010t0016g0309 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.218-12C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356139 | ||||||
| chr2:46356140
|
C | G | 1 | a0001c0001t0001g0063 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.218-11C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356140 | ||||||
| chr2:46356140
|
C | T | 187 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(184): Show | 191 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.218-11C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356140 | ||||||
| chr2:46356142
|
C | CT | 75 | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0054others(72): Show | 76 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(73): Show |
splice_region_variant&intron_variant | LOW | c.218-9_218-8insT | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356142 | ||||||
| chr2:46356142
|
C | T | 188 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(185): Show | 192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.218-9C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 2/15 | chr2 | 46356142 | ||||||
| chr2:46356424
|
G | A | 8 | a0001c0001t0004g0041a0001c0001t0004g0042a0001c0001t0004g0046others(5): Show | 8 | HG00741.hp2 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.369+122G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356424 | ||||||
| chr2:46356430
|
C | T | 1 | a0001c0001t0001g0259 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.369+128C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356430 | ||||||
| chr2:46356454
|
G | A | 177 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(174): Show | 181 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(178): Show |
intron_variant | MODIFIER | c.369+152G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356454 | ||||||
| chr2:46356570
|
T | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.370-154T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356570 | ||||||
| chr2:46356651
|
T | G | 1 | a0001c0005t0018g0183 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.370-73T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 3/15 | chr2 | 46356651 | ||||||
| chr2:46356920
|
T | G | 69 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(66): Show | 70 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(67): Show |
intron_variant | MODIFIER | c.454+112T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356920 | ||||||
| chr2:46356951
|
C | G | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.454+143C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356951 | ||||||
| chr2:46356952
|
T | C | 1 | a0002c0002t0001g0149 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.454+144T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46356952 | ||||||
| chr2:46357376
|
A | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+568A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357376 | ||||||
| chr2:46357432
|
C | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+624C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357432 | ||||||
| chr2:46357434
|
C | T | 170 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(167): Show | 173 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.454+626C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357434 | ||||||
| chr2:46357484
|
T | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.454+676T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357484 | ||||||
| chr2:46357633
|
C | T | 1 | a0002c0002t0001g0152 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.454+825C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357633 | ||||||
| chr2:46357712
|
G | A | 1 | a0001c0001t0001g0004 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.454+904G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357712 | ||||||
| chr2:46357713
|
C | T | 260 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(257): Show | 265 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.454+905C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46357713 | ||||||
| chr2:46358025
|
T | A | 1 | a0001c0001t0003g0301 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.454+1217T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358025 | ||||||
| chr2:46358066
|
C | A | 1 | a0003c0003t0009g0019 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.454+1258C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358066 | ||||||
| chr2:46358345
|
G | T | 8 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(5): Show | 9 | HG01109.hp1 HG02055.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.454+1537G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358345 | ||||||
| chr2:46358350
|
G | A | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.454+1542G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358350 | ||||||
| chr2:46358400
|
A | G | 8 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(5): Show | 8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.454+1592A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358400 | ||||||
| chr2:46358474
|
T | G | 2 | a0003c0004t0008g0218a0004c0007t0013g0172 | 2 | HG02280.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.454+1666T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358474 | ||||||
| chr2:46358586
|
G | C | 2 | a0001c0001t0001g0104a0001c0001t0001g0177 | 2 | HG03669.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.454+1778G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358586 | ||||||
| chr2:46358590
|
C | G | 3 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306 | 3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.454+1782C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358590 | ||||||
| chr2:46358628
|
C | T | 7 | a0001c0001t0002g0059a0001c0001t0002g0114a0001c0001t0002g0116others(4): Show | 7 | HG00280.hp2 HG01175.hp2 HG01346.hp2 others(4): Show |
intron_variant | MODIFIER | c.454+1820C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358628 | ||||||
| chr2:46358688
|
G | A | 1 | a0001c0001t0001g0211 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.454+1880G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358688 | ||||||
| chr2:46358749
|
A | T | 260 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(257): Show | 265 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.455-1889A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358749 | ||||||
| chr2:46358899
|
T | G | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-1739T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358899 | ||||||
| chr2:46358903
|
C | T | 3 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306 | 3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.455-1735C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358903 | ||||||
| chr2:46358917
|
T | C | 6 | a0001c0001t0001g0054a0001c0001t0001g0178a0001c0001t0001g0296others(3): Show | 6 | HG02622.hp2 HG02976.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1721T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358917 | ||||||
| chr2:46358975
|
A | T | 266 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(263): Show | 271 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(268): Show |
intron_variant | MODIFIER | c.455-1663A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358975 | ||||||
| chr2:46358998
|
C | T | 1 | a0001c0001t0004g0041 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.455-1640C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46358998 | ||||||
| chr2:46359042
|
C | T | 15 | a0001c0001t0001g0210a0001c0001t0001g0284a0001c0001t0001g0286others(12): Show | 16 | HG00544.hp2 HG02132.hp1 HG02602.hp1 others(13): Show |
intron_variant | MODIFIER | c.455-1596C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359042 | ||||||
| chr2:46359057
|
G | A | 5 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0001g0152others(2): Show | 5 | HG02717.hp1 HG02965.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.455-1581G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359057 | ||||||
| chr2:46359120
|
G | A | 8 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(5): Show | 8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.455-1518G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359120 | ||||||
| chr2:46359215
|
C | T | 3 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0043g0037 | 3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.455-1423C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359215 | ||||||
| chr2:46359257
|
C | CAAAA | 8 | a0001c0001t0001g0073a0001c0001t0001g0098a0001c0001t0001g0144others(5): Show | 8 | HG01256.hp1 HG01261.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.455-1360_455-1357d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAA | 56 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(53): Show | 57 | HG00323.hp2 HG00673.hp1 HG00738.hp1 others(54): Show |
intron_variant | MODIFIER | c.455-1361_455-1357d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAA | 9 | a0001c0001t0001g0067a0001c0001t0001g0086a0001c0001t0001g0113others(6): Show | 9 | HG00621.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.455-1362_455-1357d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA | 5 | a0001c0001t0001g0178a0001c0001t0003g0290a0001c0001t0008g0001others(2): Show | 6 | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.455-1363_455-1357d others(9): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(4): Show |
5 | a0001c0001t0001g0123a0001c0001t0001g0190a0001c0001t0001g0209others(2): Show | 5 | HG01952.hp1 HG01993.hp1 NA18985.hp2 others(2): Show |
intron_variant | MODIFIER | c.455-1367_455-1357d others(13): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(5): Show |
5 | a0001c0001t0001g0006a0001c0001t0001g0202a0001c0001t0001g0232others(2): Show | 6 | HG00544.hp1 NA18950.hp2 NA18968.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1368_455-1357d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(6): Show |
4 | a0001c0001t0004g0214a0001c0001t0037g0184a0002c0002t0005g0016others(1): Show | 4 | HG02451.hp2 HG02735.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.455-1369_455-1357d others(15): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(7): Show |
20 | a0001c0001t0001g0076a0001c0001t0001g0083a0001c0001t0001g0088others(17): Show | 20 | HG01071.hp2 HG01081.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.455-1370_455-1357d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(8): Show |
66 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0049others(63): Show | 67 | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.455-1371_455-1357d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(9): Show |
38 | a0001c0001t0001g0015a0001c0001t0001g0107a0001c0001t0001g0143others(35): Show | 39 | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.455-1372_455-1357d others(18): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(10): Show |
17 | a0001c0001t0001g0140a0001c0001t0001g0157a0001c0001t0001g0215others(14): Show | 17 | HG02074.hp1 HG02135.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.455-1373_455-1357d others(19): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(11): Show |
6 | a0001c0001t0001g0239a0001c0001t0002g0060a0001c0001t0003g0205others(3): Show | 6 | HG00140.hp1 HG01496.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.455-1374_455-1357d others(20): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(12): Show |
2 | a0001c0001t0001g0153a0001c0001t0001g0244 | 2 | HG04115.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.455-1375_455-1357d others(21): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(13): Show |
1 | a0002c0002t0020g0031 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.455-1376_455-1357d others(22): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(14): Show |
2 | a0001c0001t0001g0294a0001c0001t0001g0303 | 2 | HG02970.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.455-1377_455-1357d others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
C | CAAAAAAA others(20): Show |
1 | a0001c0016t0005g0030 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.455-1357_455-1356i others(29): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359257
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0110 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.455-1367_455-1357d others(13): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | 46359257 | |||||
| chr2:46359388
|
C | G | 1 | a0002c0002t0003g0251 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.455-1250C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359388 | ||||||
| chr2:46359459
|
C | A | 1 | a0001c0001t0007g0219 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.455-1179C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359459 | ||||||
| chr2:46359496
|
T | A | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.455-1142T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359496 | ||||||
| chr2:46359545
|
A | T | 3 | a0001c0001t0002g0095a0001c0001t0002g0108a0001c0001t0002g0246 | 3 | HG01099.hp1 HG01255.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.455-1093A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359545 | ||||||
| chr2:46359706
|
G | A | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-932G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359706 | ||||||
| chr2:46359776
|
C | A | 1 | a0001c0001t0001g0284 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.455-862C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359776 | ||||||
| chr2:46359895
|
G | T | 77 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(74): Show | 78 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.455-743G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359895 | ||||||
| chr2:46359958
|
T | C | 179 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(176): Show | 183 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(180): Show |
intron_variant | MODIFIER | c.455-680T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46359958 | ||||||
| chr2:46360124
|
G | A | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-514G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360124 | ||||||
| chr2:46360288
|
G | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.455-350G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360288 | ||||||
| chr2:46360477
|
A | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.455-161A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360477 | ||||||
| chr2:46360509
|
G | A | 1 | a0003c0004t0032g0170 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.455-129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360509 | ||||||
| chr2:46360616
|
C | T | 2 | a0001c0001t0001g0151a0001c0001t0001g0175 | 2 | NA18522.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.455-22C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | chr2 | 46360616 | ||||||
| chr2:46361232
|
T | A | 1 | a0001c0001t0001g0202 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.779+142T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361232 | ||||||
| chr2:46361254
|
A | G | 1 | a0001c0001t0002g0092 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.779+164A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361254 | ||||||
| chr2:46361283
|
C | G | 1 | a0001c0001t0002g0114 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.779+193C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361283 | ||||||
| chr2:46361337
|
C | A | 1 | a0002c0002t0001g0152 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.779+247C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361337 | ||||||
| chr2:46361344
|
T | C | 3 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0043g0037 | 3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.779+254T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361344 | ||||||
| chr2:46361349
|
G | T | 61 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(58): Show | 62 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.779+259G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361349 | ||||||
| chr2:46361363
|
C | A | 1 | a0001c0001t0001g0201 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.779+273C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361363 | ||||||
| chr2:46361439
|
C | A | 1 | a0002c0002t0001g0152 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.779+349C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361439 | ||||||
| chr2:46361535
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0001g0076 | 2 | HG01928.hp2 HG01993.hp2 |
intron_variant | MODIFIER | c.779+445T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361535 | ||||||
| chr2:46361597
|
T | C | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.779+507T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361597 | ||||||
| chr2:46361675
|
T | C | 5 | a0001c0001t0001g0050a0001c0001t0004g0051a0001c0001t0023g0139others(2): Show | 5 | HG02717.hp1 HG02965.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.779+585T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361675 | ||||||
| chr2:46361812
|
T | G | 4 | a0001c0001t0001g0050a0001c0001t0004g0051a0001c0001t0023g0139others(1): Show | 4 | HG02717.hp1 HG02965.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.779+722T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361812 | ||||||
| chr2:46361893
|
C | T | 13 | a0001c0001t0001g0073a0001c0001t0001g0293a0001c0001t0010g0142others(10): Show | 13 | HG01261.hp1 HG01496.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.779+803C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361893 | ||||||
| chr2:46361903
|
T | C | 3 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306 | 3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.779+813T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361903 | ||||||
| chr2:46361965
|
G | A | 1 | a0001c0001t0001g0206 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.779+875G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361965 | ||||||
| chr2:46361968
|
C | T | 1 | a0001c0001t0004g0010 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.779+878C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361968 | ||||||
| chr2:46361987
|
A | G | 1 | a0001c0001t0003g0212 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.779+897A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46361987 | ||||||
| chr2:46362040
|
A | G | 178 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(175): Show | 182 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.779+950A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362040 | ||||||
| chr2:46362047
|
C | T | 8 | a0001c0001t0001g0293a0002c0002t0001g0149a0002c0002t0001g0150others(5): Show | 8 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+957C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362047 | ||||||
| chr2:46362072
|
C | T | 69 | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0054others(66): Show | 70 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(67): Show |
intron_variant | MODIFIER | c.779+982C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362072 | ||||||
| chr2:46362156
|
A | G | 172 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(169): Show | 175 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.779+1066A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362156 | ||||||
| chr2:46362184
|
C | A | 13 | a0001c0001t0001g0073a0001c0001t0001g0293a0001c0001t0010g0142others(10): Show | 13 | HG01261.hp1 HG01496.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.779+1094C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362184 | ||||||
| chr2:46362348
|
C | G | 46 | a0001c0001t0001g0004a0001c0001t0001g0075a0001c0001t0001g0076others(43): Show | 47 | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.779+1258C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362348 | ||||||
| chr2:46362624
|
C | T | 3 | a0001c0016t0005g0030a0002c0002t0020g0018a0002c0002t0020g0031 | 3 | HG02451.hp1 HG03516.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.779+1534C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362624 | ||||||
| chr2:46362867
|
A | T | 3 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306 | 3 | HG03041.hp1 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.779+1777A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362867 | ||||||
| chr2:46362951
|
TTAGTGGT others(17): Show |
T | 7 | a0001c0001t0001g0073a0001c0001t0007g0219a0001c0001t0010g0142others(4): Show | 7 | HG01255.hp1 HG01261.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1887_779+1910d others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362951 | |||||
| chr2:46362953
|
A | AGTG | 3 | a0003c0003t0006g0057a0003c0003t0006g0196a0003c0003t0006g0295 | 3 | HG01175.hp1 HG02145.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.779+1884_779+1886d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | |||||
| chr2:46362953
|
AGTGGTGG others(20): Show |
A | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.779+1887_779+1913d others(29): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | |||||
| chr2:46362953
|
AGTGGTGG others(23): Show |
A | 1 | a0001c0001t0001g0294 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.779+1887_779+1916d others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | |||||
| chr2:46362953
|
AGTGGTGG others(26): Show |
A | 1 | a0002c0002t0014g0048 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.779+1887_779+1919d others(35): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | |||||
| chr2:46362953
|
AGTGGTGG others(29): Show |
A | 2 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.779+1887_779+1922d others(38): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362953 | |||||
| chr2:46362956
|
GGTGGTGG others(14): Show |
G | 8 | a0001c0001t0001g0050a0001c0001t0001g0258a0001c0001t0004g0051others(5): Show | 8 | HG01109.hp1 HG02717.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+1887_779+1907d others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362956 | |||||
| chr2:46362959
|
GGTGGTGG others(11): Show |
G | 3 | a0001c0001t0008g0001a0001c0001t0008g0045a0005c0008t0042g0023 | 4 | HG02896.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.779+1887_779+1904d others(20): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362959 | |||||
| chr2:46362962
|
GGTGGTGG others(8): Show |
G | 1 | a0001c0001t0001g0244 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.779+1887_779+1901d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362962 | |||||
| chr2:46362965
|
GGTGGTGG others(5): Show |
G | 15 | a0001c0001t0001g0132a0001c0001t0001g0161a0001c0001t0001g0162others(12): Show | 15 | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(12): Show |
intron_variant | MODIFIER | c.779+1887_779+1898d others(14): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362965 | |||||
| chr2:46362968
|
G | A | 1 | a0001c0001t0001g0103 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.779+1878G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362968 | ||||||
| chr2:46362968
|
GGTGGTGG others(2): Show |
G | 89 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0083others(86): Show | 91 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.779+1887_779+1895d others(11): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362968 | |||||
| chr2:46362971
|
GGTGGTA | G | 46 | a0001c0001t0001g0015a0001c0001t0001g0075a0001c0001t0001g0076others(43): Show | 46 | HG00099.hp1 HG00621.hp2 HG00642.hp2 others(43): Show |
intron_variant | MODIFIER | c.779+1887_779+1892d others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362971 | |||||
| chr2:46362974
|
GGTA | G | 7 | a0001c0001t0001g0008a0001c0001t0001g0210a0001c0001t0001g0283others(4): Show | 7 | HG00544.hp2 HG01884.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1887_779+1889d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362974 | |||||
| chr2:46362977
|
A | AGTG | 31 | a0001c0001t0001g0002a0001c0001t0001g0061a0001c0001t0001g0062others(28): Show | 33 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.779+1927_779+1929d others(5): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | |||||
| chr2:46362977
|
A | AGTGGTGG others(53): Show |
1 | a0001c0001t0001g0111 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.779+1929_779+1930i others(62): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | |||||
| chr2:46362977
|
A | AGTGGTGG others(53): Show |
1 | a0001c0001t0001g0112 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.779+1929_779+1930i others(62): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | |||||
| chr2:46362977
|
A | G | 14 | a0001c0001t0001g0049a0001c0001t0001g0140a0001c0001t0001g0284others(11): Show | 15 | HG01255.hp1 HG02602.hp1 HG02683.hp2 others(12): Show |
intron_variant | MODIFIER | c.779+1887A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362977 | ||||||
| chr2:46362977
|
AGTGGTGG others(2): Show |
A | 56 | a0001c0001t0001g0009a0001c0001t0001g0078a0001c0001t0001g0079others(53): Show | 56 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.779+1921_779+1929d others(11): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362977 | |||||
| chr2:46362980
|
G | GGTGGTGG others(23): Show |
1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.779+1919_779+1920i others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46362980 | |||||
| chr2:46362986
|
G | A | 5 | a0001c0001t0028g0260a0002c0014t0005g0024a0003c0003t0006g0047others(2): Show | 5 | HG01891.hp2 HG02559.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.779+1896G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46362986 | ||||||
| chr2:46363011
|
G | A | 7 | a0001c0001t0001g0123a0001c0001t0001g0134a0001c0001t0001g0318others(4): Show | 7 | HG01993.hp1 HG02683.hp2 NA18952.hp2 others(4): Show |
intron_variant | MODIFIER | c.779+1921G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363011 | ||||||
| chr2:46363014
|
G | A | 212 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(209): Show | 215 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(212): Show |
intron_variant | MODIFIER | c.779+1924G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363014 | ||||||
| chr2:46363017
|
G | A | 215 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(212): Show | 218 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.779+1927G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363017 | ||||||
| chr2:46363017
|
G | GTGATGA | 14 | a0001c0001t0001g0054a0001c0001t0001g0085a0001c0001t0001g0086others(11): Show | 15 | HG02056.hp2 HG02622.hp2 HG02976.hp1 others(12): Show |
intron_variant | MODIFIER | c.779+1931_779+1932i others(8): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | |||||
| chr2:46363017
|
G | GTGGTGGT others(8): Show |
1 | a0001c0001t0036g0186 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.779+1929_779+1930i others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | |||||
| chr2:46363017
|
G | GTGGTGGT others(17): Show |
1 | a0003c0004t0021g0137 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.779+1929_779+1930i others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46363017 | |||||
| chr2:46363150
|
C | T | 4 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(1): Show | 5 | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.779+2060C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363150 | ||||||
| chr2:46363195
|
C | G | 246 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(243): Show | 251 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(248): Show |
intron_variant | MODIFIER | c.779+2105C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363195 | ||||||
| chr2:46363245
|
G | C | 164 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(161): Show | 167 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.779+2155G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363245 | ||||||
| chr2:46363317
|
A | G | 261 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(258): Show | 266 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(263): Show |
intron_variant | MODIFIER | c.779+2227A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363317 | ||||||
| chr2:46363586
|
A | G | 61 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(58): Show | 62 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.779+2496A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363586 | ||||||
| chr2:46363652
|
T | C | 62 | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0066others(59): Show | 63 | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.779+2562T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363652 | ||||||
| chr2:46363685
|
A | G | 16 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0148others(13): Show | 16 | HG00621.hp1 HG00673.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.779+2595A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363685 | ||||||
| chr2:46363721
|
A | G | 6 | a0001c0001t0001g0147a0001c0001t0001g0157a0001c0001t0001g0160others(3): Show | 6 | HG00408.hp2 HG02074.hp1 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.779+2631A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363721 | ||||||
| chr2:46363755
|
T | A | 2 | a0003c0004t0009g0020a0003c0004t0009g0022 | 2 | HG01081.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.779+2665T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363755 | ||||||
| chr2:46363755
|
T | G | 1 | a0001c0001t0001g0285 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.779+2665T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363755 | ||||||
| chr2:46363855
|
G | A | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.779+2765G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46363855 | ||||||
| chr2:46364305
|
G | A | 6 | a0002c0002t0001g0052a0002c0002t0001g0152a0002c0002t0001g0182others(3): Show | 6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.779+3215G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364305 | ||||||
| chr2:46364359
|
T | C | 12 | a0001c0001t0004g0051a0001c0001t0028g0260a0002c0014t0005g0024others(9): Show | 12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.779+3269T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364359 | ||||||
| chr2:46364381
|
A | C | 1 | a0001c0001t0001g0015 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.779+3291A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364381 | ||||||
| chr2:46364423
|
C | T | 6 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0100others(3): Show | 6 | HG00639.hp1 HG00642.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.779+3333C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364423 | ||||||
| chr2:46364625
|
A | T | 3 | a0001c0001t0001g0106a0001c0001t0001g0113a0001c0001t0003g0290 | 3 | HG02056.hp2 NA18960.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.779+3535A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364625 | ||||||
| chr2:46364661
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.779+3571C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364661 | ||||||
| chr2:46364718
|
G | T | 3 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012 | 3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.779+3628G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364718 | ||||||
| chr2:46364787
|
A | G | 2 | a0002c0014t0005g0024a0003c0004t0009g0035 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.779+3697A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364787 | ||||||
| chr2:46364867
|
T | C | 183 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(180): Show | 187 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.779+3777T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46364867 | ||||||
| chr2:46365039
|
G | C | 2 | a0001c0001t0001g0151a0001c0001t0001g0175 | 2 | NA18522.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.779+3949G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365039 | ||||||
| chr2:46365152
|
C | T | 8 | a0001c0001t0001g0050a0001c0001t0001g0134a0001c0001t0023g0139others(5): Show | 8 | HG01884.hp2 HG02717.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.779+4062C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365152 | ||||||
| chr2:46365385
|
G | T | 265 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(262): Show | 270 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(267): Show |
intron_variant | MODIFIER | c.779+4295G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365385 | ||||||
| chr2:46365408
|
G | A | 4 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016others(1): Show | 4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.779+4318G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365408 | ||||||
| chr2:46365433
|
T | C | 1 | a0001c0001t0001g0283 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.779+4343T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365433 | ||||||
| chr2:46365458
|
A | G | 16 | a0001c0001t0001g0050a0001c0001t0001g0073a0001c0001t0001g0294others(13): Show | 17 | HG01261.hp1 HG01496.hp2 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.779+4368A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365458 | ||||||
| chr2:46365627
|
T | C | 11 | a0001c0001t0004g0051a0001c0001t0028g0260a0003c0003t0006g0047others(8): Show | 11 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.780-4200T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365627 | ||||||
| chr2:46365668
|
C | T | 15 | a0001c0001t0001g0073a0001c0001t0001g0293a0001c0001t0001g0294others(12): Show | 16 | HG01261.hp1 HG01496.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.780-4159C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365668 | ||||||
| chr2:46365705
|
G | A | 4 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016others(1): Show | 4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.780-4122G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365705 | ||||||
| chr2:46365717
|
C | T | 6 | a0002c0002t0001g0052a0002c0002t0001g0152a0002c0002t0001g0182others(3): Show | 6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-4110C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365717 | ||||||
| chr2:46365900
|
G | T | 4 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306others(1): Show | 4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3927G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365900 | ||||||
| chr2:46365985
|
G | A | 1 | a0001c0001t0030g0056 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.780-3842G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46365985 | ||||||
| chr2:46366046
|
G | C | 4 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306others(1): Show | 4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3781G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366046 | ||||||
| chr2:46366097
|
G | A | 4 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306others(1): Show | 4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3730G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366097 | ||||||
| chr2:46366145
|
G | A | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.780-3682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366145 | ||||||
| chr2:46366152
|
C | T | 1 | a0003c0004t0006g0141 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.780-3675C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366152 | ||||||
| chr2:46366160
|
T | C | 239 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(236): Show | 243 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(240): Show |
intron_variant | MODIFIER | c.780-3667T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366160 | ||||||
| chr2:46366220
|
G | A | 4 | a0001c0001t0001g0134a0003c0003t0006g0043a0003c0003t0006g0306others(1): Show | 4 | HG01884.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.780-3607G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366220 | ||||||
| chr2:46366240
|
G | C | 1 | a0002c0002t0001g0182 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.780-3587G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366240 | ||||||
| chr2:46366311
|
TTGAGAGT others(7): Show |
T | 3 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016 | 3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.780-3515_780-3502d others(16): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366311 | ||||||
| chr2:46366327
|
A | G | 1 | a0001c0001t0001g0211 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.780-3500A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366327 | ||||||
| chr2:46366360
|
C | G | 1 | a0001c0001t0005g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.780-3467C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366360 | ||||||
| chr2:46366397
|
G | A | 43 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0086others(40): Show | 44 | HG01109.hp1 HG01168.hp2 HG01175.hp1 others(41): Show |
intron_variant | MODIFIER | c.780-3430G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366397 | ||||||
| chr2:46366518
|
TCA | T | 3 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0018g0185 | 3 | HG01257.hp2 HG01258.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.780-3307_780-3306d others(4): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | 46366518 | |||||
| chr2:46366592
|
G | A | 2 | a0001c0001t0002g0116a0001c0001t0002g0126 | 2 | HG01346.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.780-3235G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366592 | ||||||
| chr2:46366652
|
G | T | 3 | a0001c0001t0001g0073a0001c0001t0010g0142a0002c0002t0043g0037 | 3 | HG01261.hp1 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.780-3175G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366652 | ||||||
| chr2:46366908
|
G | A | 1 | a0001c0001t0034g0291 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.780-2919G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366908 | ||||||
| chr2:46366942
|
T | A | 1 | a0001c0001t0001g0121 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.780-2885T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46366942 | ||||||
| chr2:46367012
|
G | C | 7 | a0002c0002t0001g0149a0002c0002t0001g0150a0002c0002t0001g0179others(4): Show | 7 | HG02257.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.780-2815G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367012 | ||||||
| chr2:46367132
|
T | C | 1 | a0001c0001t0005g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.780-2695T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367132 | ||||||
| chr2:46367163
|
C | T | 1 | a0001c0001t0001g0098 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.780-2664C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367163 | ||||||
| chr2:46367320
|
G | A | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.780-2507G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367320 | ||||||
| chr2:46367409
|
G | C | 13 | a0002c0002t0001g0052a0002c0002t0001g0149a0002c0002t0001g0150others(10): Show | 13 | HG02055.hp2 HG02257.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.780-2418G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367409 | ||||||
| chr2:46367461
|
G | C | 10 | a0002c0002t0001g0115a0002c0002t0001g0124a0002c0002t0001g0166others(7): Show | 10 | HG00408.hp1 HG02071.hp2 NA18964.hp2 others(7): Show |
intron_variant | MODIFIER | c.780-2366G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367461 | ||||||
| chr2:46367480
|
A | G | 6 | a0002c0002t0001g0052a0002c0002t0001g0152a0002c0002t0001g0182others(3): Show | 6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-2347A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367480 | ||||||
| chr2:46367483
|
G | A | 1 | a0002c0002t0001g0058 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.780-2344G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367483 | ||||||
| chr2:46367523
|
T | G | 1 | a0001c0001t0002g0060 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.780-2304T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367523 | ||||||
| chr2:46367531
|
C | G | 1 | a0002c0014t0005g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.780-2296C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367531 | ||||||
| chr2:46367538
|
C | G | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.780-2289C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367538 | ||||||
| chr2:46367600
|
A | G | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.780-2227A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367600 | ||||||
| chr2:46367641
|
G | A | 1 | a0001c0001t0001g0168 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.780-2186G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367641 | ||||||
| chr2:46367897
|
G | C | 2 | a0002c0002t0019g0017a0002c0002t0019g0027 | 2 | HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.780-1930G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46367897 | ||||||
| chr2:46368049
|
A | C | 4 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016others(1): Show | 4 | HG02717.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.780-1778A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368049 | ||||||
| chr2:46368117
|
G | A | 22 | a0001c0001t0001g0210a0001c0001t0001g0318a0002c0002t0001g0005others(19): Show | 23 | HG00408.hp1 HG00544.hp2 HG02071.hp2 others(20): Show |
intron_variant | MODIFIER | c.780-1710G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368117 | ||||||
| chr2:46368224
|
G | A | 23 | a0001c0001t0001g0004a0001c0001t0001g0088a0001c0001t0001g0107others(20): Show | 24 | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.780-1603G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368224 | ||||||
| chr2:46368351
|
A | G | 259 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(256): Show | 263 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(260): Show |
intron_variant | MODIFIER | c.780-1476A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368351 | ||||||
| chr2:46368667
|
C | T | 12 | a0002c0002t0001g0052a0002c0002t0001g0152a0002c0002t0001g0182others(9): Show | 12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.780-1160C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368667 | ||||||
| chr2:46368679
|
C | T | 6 | a0002c0002t0001g0052a0002c0002t0001g0152a0002c0002t0001g0182others(3): Show | 6 | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.780-1148C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368679 | ||||||
| chr2:46368832
|
T | C | 1 | a0002c0015t0031g0193 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.780-995T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46368832 | ||||||
| chr2:46369269
|
T | G | 1 | a0001c0001t0001g0079 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.780-558T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369269 | ||||||
| chr2:46369294
|
G | A | 204 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(201): Show | 205 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.780-533G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369294 | ||||||
| chr2:46369347
|
A | C | 14 | a0002c0002t0014g0044a0002c0002t0014g0048a0003c0003t0006g0047others(11): Show | 14 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.780-480A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369347 | ||||||
| chr2:46369365
|
C | T | 1 | a0001c0016t0005g0030 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.780-462C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369365 | ||||||
| chr2:46369724
|
C | T | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.780-103C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369724 | ||||||
| chr2:46369752
|
G | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.780-75G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369752 | ||||||
| chr2:46369812
|
T | A | 37 | a0001c0001t0001g0050a0001c0001t0001g0294a0001c0001t0001g0318others(34): Show | 39 | HG00408.hp1 HG01081.hp2 HG01109.hp2 others(36): Show |
intron_variant | MODIFIER | c.780-15T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | chr2 | 46369812 | ||||||
| chr2:46369945
|
G | A | 1 | a0001c0001t0005g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.886+12G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46369945 | ||||||
| chr2:46370157
|
T | C | 296 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(293): Show | 303 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(300): Show |
intron_variant | MODIFIER | c.886+224T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370157 | ||||||
| chr2:46370350
|
G | A | 1 | a0001c0005t0001g0071 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.886+417G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370350 | ||||||
| chr2:46370433
|
A | T | 3 | a0002c0002t0001g0152a0002c0002t0004g0040a0003c0003t0009g0319 | 3 | HG02257.hp2 HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.886+500A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370433 | ||||||
| chr2:46370442
|
C | T | 179 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(176): Show | 180 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.886+509C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370442 | ||||||
| chr2:46370460
|
T | C | 8 | a0001c0001t0001g0073a0001c0001t0001g0134a0002c0002t0001g0052others(5): Show | 8 | HG01261.hp1 HG02055.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.886+527T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370460 | ||||||
| chr2:46370617
|
A | C | 2 | a0001c0005t0001g0071a0001c0005t0018g0183 | 2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.886+684A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370617 | ||||||
| chr2:46370688
|
A | G | 90 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(87): Show | 96 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.886+755A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370688 | ||||||
| chr2:46370693
|
G | A | 6 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(3): Show | 7 | HG01109.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.886+760G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370693 | ||||||
| chr2:46370731
|
T | C | 67 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(64): Show | 71 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
intron_variant | MODIFIER | c.886+798T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370731 | ||||||
| chr2:46370839
|
G | A | 1 | a0001c0001t0002g0092 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.886+906G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46370839 | ||||||
| chr2:46371094
|
G | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(61): Show | 68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.886+1161G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371094 | ||||||
| chr2:46371151
|
G | T | 1 | a0001c0001t0001g0271 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.886+1218G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371151 | ||||||
| chr2:46371164
|
C | T | 2 | a0001c0001t0002g0007a0001c0001t0002g0261 | 3 | NA19065.hp2 NA19076.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.886+1231C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371164 | ||||||
| chr2:46371261
|
G | A | 1 | a0001c0001t0001g0209 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.886+1328G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371261 | ||||||
| chr2:46371383
|
A | C | 2 | a0001c0001t0012g0094a0001c0001t0012g0109 | 2 | HG01081.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.886+1450A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371383 | ||||||
| chr2:46371429
|
A | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0049others(83): Show | 87 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.886+1496A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371429 | ||||||
| chr2:46371444
|
C | T | 1 | a0001c0001t0001g0073 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.886+1511C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371444 | ||||||
| chr2:46371574
|
T | G | 3 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0005g0036 | 3 | HG02572.hp1 HG02896.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.886+1641T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371574 | ||||||
| chr2:46371624
|
G | C | 1 | a0003c0003t0033g0188 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.886+1691G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371624 | ||||||
| chr2:46371706
|
A | G | 1 | a0001c0001t0005g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.886+1773A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371706 | ||||||
| chr2:46371794
|
A | T | 7 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(4): Show | 8 | HG01109.hp2 HG02451.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.886+1861A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371794 | ||||||
| chr2:46371891
|
A | G | 127 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(124): Show | 133 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.886+1958A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371891 | ||||||
| chr2:46371933
|
C | G | 3 | a0001c0001t0001g0134a0002c0002t0019g0017a0002c0002t0019g0027 | 3 | HG03139.hp2 HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.886+2000C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371933 | ||||||
| chr2:46371977
|
G | A | 1 | a0001c0001t0002g0114 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.886+2044G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46371977 | ||||||
| chr2:46372091
|
G | A | 2 | a0004c0007t0013g0055a0004c0007t0013g0172 | 2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.886+2158G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372091 | ||||||
| chr2:46372135
|
A | T | 74 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(71): Show | 78 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.886+2202A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372135 | ||||||
| chr2:46372194
|
A | T | 1 | a0001c0001t0001g0256 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.886+2261A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372194 | ||||||
| chr2:46372234
|
C | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(61): Show | 68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.886+2301C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372234 | ||||||
| chr2:46372282
|
A | G | 1 | a0001c0001t0030g0056 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.886+2349A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372282 | ||||||
| chr2:46372492
|
A | C | 2 | a0003c0003t0006g0057a0003c0003t0006g0196 | 2 | HG01175.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.886+2559A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372492 | ||||||
| chr2:46372615
|
G | A | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.886+2682G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372615 | ||||||
| chr2:46372779
|
T | A | 19 | a0002c0002t0014g0044a0002c0002t0014g0048a0003c0003t0006g0043others(16): Show | 19 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.886+2846T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372779 | ||||||
| chr2:46372891
|
A | G | 5 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012others(2): Show | 5 | HG02055.hp2 HG02630.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.887-2799A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46372891 | ||||||
| chr2:46373037
|
T | C | 1 | a0001c0001t0007g0219 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.887-2653T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373037 | ||||||
| chr2:46373071
|
C | T | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.887-2619C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373071 | ||||||
| chr2:46373085
|
A | G | 22 | a0001c0001t0008g0001a0001c0001t0008g0045a0001c0001t0008g0229others(19): Show | 23 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.887-2605A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373085 | ||||||
| chr2:46373087
|
T | G | 36 | a0001c0001t0001g0073a0001c0001t0001g0294a0001c0001t0007g0219others(33): Show | 37 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.887-2603T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373087 | ||||||
| chr2:46373184
|
A | G | 24 | a0001c0001t0001g0073a0002c0002t0001g0052a0002c0002t0001g0182others(21): Show | 24 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.887-2506A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373184 | ||||||
| chr2:46373520
|
A | G | 6 | a0001c0001t0001g0006a0001c0001t0001g0202a0001c0001t0001g0206others(3): Show | 7 | NA18950.hp2 NA18968.hp2 NA18984.hp2 others(4): Show |
intron_variant | MODIFIER | c.887-2170A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373520 | ||||||
| chr2:46373522
|
A | C | 10 | a0001c0001t0001g0294a0001c0001t0007g0219a0001c0001t0008g0001others(7): Show | 11 | HG01109.hp2 HG01255.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.887-2168A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373522 | ||||||
| chr2:46373678
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-2012G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373678 | ||||||
| chr2:46373755
|
T | C | 63 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(60): Show | 67 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
intron_variant | MODIFIER | c.887-1935T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373755 | ||||||
| chr2:46373831
|
A | C | 1 | a0001c0001t0001g0073 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-1859A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373831 | ||||||
| chr2:46373973
|
G | A | 64 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(61): Show | 68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.887-1717G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46373973 | ||||||
| chr2:46374032
|
C | T | 8 | a0001c0001t0001g0073a0001c0001t0028g0260a0002c0002t0001g0052others(5): Show | 8 | HG01261.hp1 HG02055.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.887-1658C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374032 | ||||||
| chr2:46374275
|
T | G | 60 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(57): Show | 64 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.887-1415T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374275 | ||||||
| chr2:46374357
|
C | T | 60 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(57): Show | 64 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.887-1333C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374357 | ||||||
| chr2:46374359
|
A | G | 9 | a0001c0001t0001g0294a0001c0001t0008g0001a0001c0001t0008g0045others(6): Show | 10 | HG01109.hp2 HG02055.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.887-1331A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374359 | ||||||
| chr2:46374372
|
G | A | 2 | a0001c0005t0001g0071a0001c0005t0018g0183 | 2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.887-1318G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374372 | ||||||
| chr2:46374374
|
A | G | 1 | a0002c0014t0005g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.887-1316A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374374 | ||||||
| chr2:46374416
|
T | G | 1 | a0001c0001t0001g0073 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-1274T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374416 | ||||||
| chr2:46374528
|
C | T | 2 | a0001c0001t0001g0073a0005c0008t0042g0023 | 2 | HG01261.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.887-1162C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374528 | ||||||
| chr2:46374540
|
T | C | 2 | a0001c0001t0003g0212a0001c0001t0003g0301 | 2 | HG02071.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.887-1150T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374540 | ||||||
| chr2:46374716
|
C | A | 8 | a0001c0001t0001g0148a0001c0001t0001g0258a0001c0001t0001g0268others(5): Show | 8 | HG03831.hp2 HG03942.hp2 HG04199.hp2 others(5): Show |
intron_variant | MODIFIER | c.887-974C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374716 | ||||||
| chr2:46374728
|
A | G | 15 | a0001c0001t0001g0054a0001c0001t0001g0086a0001c0001t0001g0120others(12): Show | 16 | HG00099.hp2 HG01168.hp2 HG01358.hp2 others(13): Show |
intron_variant | MODIFIER | c.887-962A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374728 | ||||||
| chr2:46374740
|
A | G | 10 | a0001c0001t0001g0294a0001c0001t0007g0219a0001c0001t0008g0001others(7): Show | 11 | HG01109.hp2 HG01255.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.887-950A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374740 | ||||||
| chr2:46374767
|
A | G | 3 | a0001c0001t0001g0134a0002c0002t0019g0017a0002c0002t0019g0027 | 3 | HG03139.hp2 HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.887-923A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374767 | ||||||
| chr2:46374825
|
G | T | 1 | a0001c0001t0001g0145 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.887-865G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374825 | ||||||
| chr2:46374929
|
C | T | 2 | a0004c0007t0013g0055a0004c0007t0013g0172 | 2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.887-761C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46374929 | ||||||
| chr2:46375012
|
G | C | 3 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0242 | 3 | HG00140.hp2 HG01071.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.887-678G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375012 | ||||||
| chr2:46375019
|
C | A | 11 | a0002c0002t0001g0149a0002c0002t0001g0150a0002c0002t0001g0179others(8): Show | 11 | HG02257.hp1 HG02451.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.887-671C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375019 | ||||||
| chr2:46375032
|
G | T | 4 | a0001c0001t0001g0061a0001c0001t0001g0119a0001c0001t0001g0161others(1): Show | 4 | HG02602.hp2 HG03688.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.887-658G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375032 | ||||||
| chr2:46375112
|
G | A | 134 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(131): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.887-578G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375112 | ||||||
| chr2:46375166
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.887-524G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375166 | ||||||
| chr2:46375178
|
G | GA | 58 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(55): Show | 62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.887-501dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375178 | |||||
| chr2:46375178
|
G | GAA | 17 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0082others(14): Show | 17 | HG00735.hp1 HG00735.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.887-502_887-501dup others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375178 | |||||
| chr2:46375190
|
C | A | 93 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(90): Show | 98 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
intron_variant | MODIFIER | c.887-500C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375190 | ||||||
| chr2:46375190
|
C | CA | 14 | a0001c0001t0001g0054a0001c0001t0001g0086a0001c0001t0001g0120others(11): Show | 15 | HG01168.hp2 HG01243.hp1 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.887-491dupA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375190 | |||||
| chr2:46375190
|
CA | C | 40 | a0001c0001t0001g0073a0001c0001t0001g0293a0001c0001t0001g0294others(37): Show | 41 | HG01255.hp1 HG01261.hp1 HG02071.hp2 others(38): Show |
intron_variant | MODIFIER | c.887-491delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | 46375190 | |||||
| chr2:46375191
|
A | C | 22 | a0001c0001t0008g0001a0001c0001t0008g0045a0001c0001t0008g0229others(19): Show | 23 | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.887-499A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375191 | ||||||
| chr2:46375199
|
A | C | 5 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012others(2): Show | 5 | HG01175.hp1 HG02055.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.887-491A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375199 | ||||||
| chr2:46375200
|
C | A | 6 | a0001c0001t0001g0300a0002c0002t0001g0052a0002c0002t0001g0182others(3): Show | 6 | HG01074.hp2 HG01175.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.887-490C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375200 | ||||||
| chr2:46375269
|
C | CAG | 146 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(143): Show | 152 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.887-421_887-420ins others(2): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375269 | ||||||
| chr2:46375278
|
G | A | 2 | a0004c0007t0013g0055a0004c0007t0013g0172 | 2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.887-412G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375278 | ||||||
| chr2:46375484
|
C | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.887-206C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375484 | ||||||
| chr2:46375503
|
A | G | 1 | a0001c0001t0001g0262 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.887-187A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375503 | ||||||
| chr2:46375536
|
C | T | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.887-154C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375536 | ||||||
| chr2:46375539
|
C | A | 53 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(50): Show | 57 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
intron_variant | MODIFIER | c.887-151C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375539 | ||||||
| chr2:46375573
|
C | T | 1 | a0001c0001t0001g0173 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.887-117C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375573 | ||||||
| chr2:46375583
|
T | C | 56 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(53): Show | 60 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show |
intron_variant | MODIFIER | c.887-107T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375583 | ||||||
| chr2:46375614
|
C | T | 3 | a0001c0001t0001g0148a0001c0001t0001g0282a0001c0001t0003g0249 | 3 | NA18953.hp1 NA18957.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.887-76C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375614 | ||||||
| chr2:46375623
|
C | A | 1 | a0001c0001t0007g0219 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.887-67C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375623 | ||||||
| chr2:46375627
|
T | C | 2 | a0001c0001t0007g0219a0005c0008t0042g0023 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.887-63T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 7/15 | chr2 | 46375627 | ||||||
| chr2:46375939
|
C | T | 16 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0057others(13): Show | 16 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.1034+102C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46375939 | ||||||
| chr2:46375949
|
A | G | 4 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012others(1): Show | 4 | HG02055.hp2 HG02630.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.1034+112A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46375949 | ||||||
| chr2:46376026
|
A | G | 54 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(51): Show | 58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1034+189A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376026 | ||||||
| chr2:46376050
|
C | T | 1 | a0001c0001t0001g0103 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1034+213C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376050 | ||||||
| chr2:46376051
|
G | A | 1 | a0001c0001t0024g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1034+214G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376051 | ||||||
| chr2:46376118
|
A | C | 6 | a0001c0001t0001g0134a0001c0001t0007g0219a0002c0002t0001g0152others(3): Show | 6 | HG01255.hp1 HG02257.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1034+281A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376118 | ||||||
| chr2:46376121
|
C | T | 54 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(51): Show | 58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1034+284C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376121 | ||||||
| chr2:46376171
|
GA | G | 58 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(55): Show | 62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.1034+344delA | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | 46376171 | |||||
| chr2:46376299
|
A | G | 54 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(51): Show | 58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1035-240A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376299 | ||||||
| chr2:46376374
|
A | G | 3 | a0001c0001t0001g0050a0001c0001t0023g0139a0002c0002t0005g0016 | 3 | HG02717.hp1 HG02965.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1035-165A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376374 | ||||||
| chr2:46376377
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1035-162G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376377 | ||||||
| chr2:46376412
|
C | T | 3 | a0004c0007t0013g0055a0004c0007t0013g0172a0005c0008t0042g0023 | 3 | HG02886.hp1 HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1035-127C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376412 | ||||||
| chr2:46376445
|
G | A | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1035-94G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376445 | ||||||
| chr2:46376461
|
A | G | 1 | a0001c0001t0001g0209 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.1035-78A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376461 | ||||||
| chr2:46376493
|
T | G | 1 | a0001c0001t0001g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1035-46T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376493 | ||||||
| chr2:46376501
|
A | C | 3 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012 | 3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1035-38A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376501 | ||||||
| chr2:46376522
|
T | C | 1 | a0001c0001t0001g0265 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1035-17T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376522 | ||||||
| chr2:46376524
|
T | C | 2 | a0001c0005t0001g0071a0001c0005t0018g0183 | 2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.1035-15T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376524 | ||||||
| chr2:46376532
|
C | G | 75 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(72): Show | 80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
splice_region_variant&intron_variant | LOW | c.1035-7C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 8/15 | chr2 | 46376532 | ||||||
| chr2:46376791
|
C | T | 11 | a0002c0002t0001g0152a0002c0002t0004g0040a0003c0003t0006g0043others(8): Show | 11 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1249+38C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376791 | ||||||
| chr2:46376851
|
C | A | 3 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294 | 3 | HG02818.hp2 HG02970.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1249+98C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376851 | ||||||
| chr2:46376904
|
C | T | 51 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(48): Show | 55 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
intron_variant | MODIFIER | c.1249+151C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376904 | ||||||
| chr2:46376962
|
G | C | 1 | a0001c0001t0001g0217 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1249+209G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46376962 | ||||||
| chr2:46377024
|
C | T | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1249+271C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377024 | ||||||
| chr2:46377111
|
G | A | 1 | a0001c0001t0001g0089 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1249+358G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377111 | ||||||
| chr2:46377249
|
C | A | 1 | a0001c0001t0007g0219 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1249+496C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377249 | ||||||
| chr2:46377300
|
G | A | 2 | a0004c0007t0013g0055a0004c0007t0013g0172 | 2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1249+547G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377300 | ||||||
| chr2:46377373
|
C | T | 50 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(47): Show | 54 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(51): Show |
intron_variant | MODIFIER | c.1250-521C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377373 | ||||||
| chr2:46377454
|
G | T | 53 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(50): Show | 57 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
intron_variant | MODIFIER | c.1250-440G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377454 | ||||||
| chr2:46377465
|
G | A | 1 | a0002c0002t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1250-429G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377465 | ||||||
| chr2:46377486
|
A | G | 1 | a0001c0001t0017g0225 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1250-408A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377486 | ||||||
| chr2:46377493
|
A | C | 2 | a0001c0001t0028g0260a0002c0015t0031g0193 | 2 | HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1250-401A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377493 | ||||||
| chr2:46377542
|
T | C | 6 | a0001c0001t0001g0318a0002c0002t0001g0158a0002c0002t0001g0272others(3): Show | 6 | HG02683.hp2 NA18952.hp2 NA18973.hp1 others(3): Show |
intron_variant | MODIFIER | c.1250-352T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377542 | ||||||
| chr2:46377567
|
A | G | 43 | a0001c0001t0001g0318a0001c0016t0005g0030a0002c0002t0001g0005others(40): Show | 44 | HG00408.hp1 HG02071.hp2 HG02145.hp2 others(41): Show |
intron_variant | MODIFIER | c.1250-327A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377567 | ||||||
| chr2:46377689
|
C | G | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1250-205C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377689 | ||||||
| chr2:46377718
|
T | C | 39 | a0001c0001t0001g0318a0001c0016t0005g0030a0002c0002t0001g0005others(36): Show | 40 | HG00408.hp1 HG02071.hp2 HG02145.hp2 others(37): Show |
intron_variant | MODIFIER | c.1250-176T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377718 | ||||||
| chr2:46377770
|
G | T | 1 | a0001c0001t0001g0308 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1250-124G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377770 | ||||||
| chr2:46377851
|
C | T | 1 | a0002c0002t0001g0158 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1250-43C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377851 | ||||||
| chr2:46377872
|
T | C | 3 | a0001c0001t0017g0225a0001c0001t0017g0302a0001c0001t0041g0026 | 3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.1250-22T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377872 | ||||||
| chr2:46377874
|
C | A | 1 | a0001c0001t0004g0180 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1250-20C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377874 | ||||||
| chr2:46377874
|
C | T | 3 | a0001c0001t0017g0225a0001c0001t0017g0302a0001c0001t0041g0026 | 3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.1250-20C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 9/15 | chr2 | 46377874 | ||||||
| chr2:46378148
|
A | G | 34 | a0001c0001t0001g0050a0001c0001t0008g0001a0001c0001t0008g0045others(31): Show | 35 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.1443+61A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378148 | ||||||
| chr2:46378438
|
C | T | 10 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0053others(7): Show | 10 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1444-219C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378438 | ||||||
| chr2:46378520
|
A | G | 144 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(141): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show |
intron_variant | MODIFIER | c.1444-137A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378520 | ||||||
| chr2:46378577
|
G | T | 1 | a0002c0002t0001g0005 | 2 | NA18951.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.1444-80G>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378577 | ||||||
| chr2:46378614
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1444-43G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 10/15 | chr2 | 46378614 | ||||||
| chr2:46378796
|
T | G | 15 | a0002c0002t0001g0005a0002c0002t0001g0058a0002c0002t0001g0115others(12): Show | 16 | HG00408.hp1 HG02071.hp2 NA18951.hp2 others(13): Show |
intron_variant | MODIFIER | c.1554+29T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378796 | ||||||
| chr2:46378815
|
G | C | 54 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(51): Show | 58 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.1554+48G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378815 | ||||||
| chr2:46378896
|
G | A | 1 | a0001c0001t0028g0260 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1554+129G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378896 | ||||||
| chr2:46378959
|
A | G | 4 | a0002c0002t0004g0040a0002c0002t0019g0017a0002c0002t0019g0027others(1): Show | 4 | HG02257.hp2 HG02630.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.1554+192A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46378959 | ||||||
| chr2:46379215
|
T | C | 2 | a0001c0001t0007g0219a0005c0008t0042g0023 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1554+448T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379215 | ||||||
| chr2:46379218
|
A | G | 1 | a0001c0001t0002g0261 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1554+451A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379218 | ||||||
| chr2:46379267
|
C | T | 1 | a0001c0001t0002g0097 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1554+500C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379267 | ||||||
| chr2:46379282
|
C | T | 1 | a0002c0002t0015g0297 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1554+515C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379282 | ||||||
| chr2:46379307
|
C | T | 1 | a0001c0001t0008g0001 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1554+540C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379307 | ||||||
| chr2:46379332
|
ACCATTAA others(44): Show |
A | 1 | a0001c0001t0001g0049 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1554+566_1554+616d others(53): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379332 | ||||||
| chr2:46379358
|
C | G | 3 | a0001c0001t0001g0079a0001c0001t0001g0237a0001c0001t0001g0266 | 3 | NA19056.hp2 NA19062.hp1 NA19076.hp2 |
intron_variant | MODIFIER | c.1554+591C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379358 | ||||||
| chr2:46379534
|
C | A | 3 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0060 | 3 | HG00140.hp1 HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1555-693C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379534 | ||||||
| chr2:46379617
|
G | A | 12 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0053others(9): Show | 12 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1555-610G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379617 | ||||||
| chr2:46379634
|
CCTGCT | C | 70 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(67): Show | 74 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.1555-592_1555-588d others(7): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379634 | ||||||
| chr2:46379643
|
ATCAT | A | 70 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(67): Show | 74 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.1555-583_1555-580d others(6): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379643 | ||||||
| chr2:46379649
|
C | T | 55 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(52): Show | 59 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(56): Show |
intron_variant | MODIFIER | c.1555-578C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379649 | ||||||
| chr2:46379883
|
C | T | 1 | a0001c0001t0001g0131 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1555-344C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379883 | ||||||
| chr2:46379942
|
A | G | 21 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0053others(18): Show | 21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.1555-285A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46379942 | ||||||
| chr2:46380099
|
G | C | 3 | a0002c0002t0004g0040a0002c0002t0019g0017a0002c0002t0019g0027 | 3 | HG02257.hp2 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1555-128G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 11/15 | chr2 | 46380099 | ||||||
| chr2:46380723
|
T | TG | 3 | a0001c0001t0017g0225a0001c0001t0017g0302a0001c0001t0041g0026 | 3 | HG01243.hp2 HG02647.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.2045+8dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | 46380723 | |||||
| chr2:46380752
|
C | T | 1 | a0003c0003t0006g0069 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2045+35C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380752 | ||||||
| chr2:46380961
|
C | A | 2 | a0001c0001t0011g0136a0001c0001t0011g0138 | 2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2045+244C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380961 | ||||||
| chr2:46380973
|
C | T | 1 | a0002c0015t0031g0193 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2045+256C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46380973 | ||||||
| chr2:46381012
|
A | G | 1 | a0001c0001t0001g0163 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2045+295A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381012 | ||||||
| chr2:46381194
|
C | A | 93 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(90): Show | 98 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(95): Show |
intron_variant | MODIFIER | c.2046-402C>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381194 | ||||||
| chr2:46381403
|
C | G | 58 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(55): Show | 62 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
intron_variant | MODIFIER | c.2046-193C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381403 | ||||||
| chr2:46381540
|
A | C | 1 | a0001c0001t0001g0245 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2046-56A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381540 | ||||||
| chr2:46381577
|
G | A | 1 | a0001c0001t0024g0065 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2046-19G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 12/15 | chr2 | 46381577 | ||||||
| chr2:46381755
|
CCATAGCC others(54): Show |
C | 1 | a0001c0001t0001g0268 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2172+97_2173-96del others(61): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | 46381755 | |||||
| chr2:46381857
|
G | C | 1 | a0001c0016t0005g0030 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2173-118G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381857 | ||||||
| chr2:46381906
|
C | G | 28 | a0002c0002t0001g0005a0002c0002t0001g0058a0002c0002t0001g0101others(25): Show | 29 | HG00408.hp1 HG02071.hp2 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.2173-69C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381906 | ||||||
| chr2:46381948
|
C | T | 6 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294others(3): Show | 7 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.2173-27C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 13/15 | chr2 | 46381948 | ||||||
| chr2:46382139
|
C | T | 2 | a0002c0002t0001g0152a0002c0002t0005g0016 | 2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2287+50C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382139 | ||||||
| chr2:46382212
|
T | G | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2287+123T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382212 | ||||||
| chr2:46382236
|
C | T | 1 | a0001c0001t0002g0077 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2287+147C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382236 | ||||||
| chr2:46382264
|
C | T | 5 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294others(2): Show | 5 | HG02818.hp2 HG02970.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2288-161C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382264 | ||||||
| chr2:46382307
|
T | TG | 7 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294others(4): Show | 8 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2288-116dupG | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | 46382307 | |||||
| chr2:46382399
|
G | A | 21 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0053others(18): Show | 21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.2288-26G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 14/15 | chr2 | 46382399 | ||||||
| chr2:46382625
|
C | G | 3 | a0002c0002t0001g0052a0002c0002t0001g0182a0002c0002t0005g0012 | 3 | HG02055.hp2 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2461+27C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382625 | ||||||
| chr2:46382818
|
A | G | 123 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(120): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.2461+220A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382818 | ||||||
| chr2:46382822
|
A | T | 7 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294others(4): Show | 8 | HG01109.hp2 HG02818.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2461+224A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382822 | ||||||
| chr2:46382827
|
A | T | 61 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(58): Show | 65 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
intron_variant | MODIFIER | c.2461+229A>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382827 | ||||||
| chr2:46382832
|
A | C | 52 | a0001c0001t0001g0145a0001c0001t0001g0265a0001c0001t0001g0294others(49): Show | 54 | HG00408.hp1 HG01109.hp2 HG01255.hp1 others(51): Show |
intron_variant | MODIFIER | c.2461+234A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382832 | ||||||
| chr2:46382832
|
A | G | 1 | a0001c0001t0001g0283 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2461+234A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382832 | ||||||
| chr2:46382993
|
T | C | 1 | a0005c0008t0042g0023 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2461+395T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46382993 | ||||||
| chr2:46383004
|
AAGAGAAA others(8): Show |
A | 5 | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0001g0118others(2): Show | 5 | HG01071.hp2 HG01928.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.2461+412_2461+426d others(17): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | 46383004 | |||||
| chr2:46383036
|
C | G | 134 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(131): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.2461+438C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383036 | ||||||
| chr2:46383049
|
G | A | 4 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0060others(1): Show | 4 | HG00140.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+451G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383049 | ||||||
| chr2:46383050
|
G | A | 1 | a0001c0001t0004g0146 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2461+452G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383050 | ||||||
| chr2:46383073
|
A | C | 63 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(60): Show | 67 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
intron_variant | MODIFIER | c.2461+475A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383073 | ||||||
| chr2:46383081
|
C | T | 1 | a0001c0001t0023g0139 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2461+483C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383081 | ||||||
| chr2:46383131
|
C | T | 2 | a0001c0001t0010g0003a0001c0001t0044g0213 | 3 | HG00280.hp1 HG01074.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.2461+533C>T | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383131 | ||||||
| chr2:46383180
|
G | A | 1 | a0001c0001t0004g0264 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2461+582G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383180 | ||||||
| chr2:46383270
|
C | G | 29 | a0001c0001t0001g0050a0001c0001t0023g0139a0001c0005t0001g0071others(26): Show | 29 | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.2461+672C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383270 | ||||||
| chr2:46383272
|
T | A | 1 | a0002c0002t0043g0037 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2461+674T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383272 | ||||||
| chr2:46383340
|
A | G | 83 | a0001c0001t0001g0050a0001c0001t0001g0086a0001c0001t0001g0120others(80): Show | 85 | HG00099.hp2 HG00408.hp1 HG01081.hp2 others(82): Show |
intron_variant | MODIFIER | c.2461+742A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383340 | ||||||
| chr2:46383341
|
A | G | 1 | a0001c0016t0005g0030 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2461+743A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383341 | ||||||
| chr2:46383385
|
T | C | 21 | a0003c0003t0006g0043a0003c0003t0006g0047a0003c0003t0006g0053others(18): Show | 21 | HG01081.hp2 HG01109.hp1 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.2461+787T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383385 | ||||||
| chr2:46383419
|
G | C | 1 | a0003c0003t0009g0319 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2461+821G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383419 | ||||||
| chr2:46383466
|
T | G | 81 | a0001c0001t0001g0050a0001c0001t0001g0145a0001c0001t0001g0265others(78): Show | 83 | HG00099.hp2 HG00408.hp1 HG01081.hp2 others(80): Show |
intron_variant | MODIFIER | c.2461+868T>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383466 | ||||||
| chr2:46383541
|
A | C | 138 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(135): Show | 143 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(140): Show |
intron_variant | MODIFIER | c.2461+943A>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383541 | ||||||
| chr2:46383643
|
T | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0113others(2): Show | 5 | HG02056.hp2 NA18953.hp2 NA18954.hp1 others(2): Show |
intron_variant | MODIFIER | c.2462-866T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383643 | ||||||
| chr2:46383649
|
G | A | 1 | a0001c0001t0001g0167 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2462-860G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383649 | ||||||
| chr2:46383777
|
T | C | 3 | a0002c0002t0015g0189a0002c0002t0020g0018a0002c0002t0020g0031 | 3 | HG02451.hp1 HG03098.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2462-732T>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46383777 | ||||||
| chr2:46384177
|
A | G | 2 | a0002c0002t0001g0152a0002c0002t0005g0016 | 2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2462-332A>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384177 | ||||||
| chr2:46384300
|
C | G | 1 | a0001c0001t0001g0093 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2462-209C>G | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384300 | ||||||
| chr2:46384332
|
G | A | 102 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(99): Show | 107 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(104): Show |
intron_variant | MODIFIER | c.2462-177G>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384332 | ||||||
| chr2:46384379
|
G | C | 2 | a0002c0002t0001g0152a0002c0002t0005g0016 | 2 | HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2462-130G>C | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384379 | ||||||
| chr2:46384409
|
T | A | 1 | a0002c0015t0031g0193 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2462-100T>A | EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 15/15 | chr2 | 46384409 |