Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 90 |
| ensemblid | ENSG00000115170.16 |
| hgncid | 171 |
| symbol | ACVR1 |
| name | activin A receptor type 1 |
| refseq_nuc | NM_001111067.4 |
| refseq_prot | NP_001104537.1 |
| ensembl_nuc | ENST00000434821.7 |
| ensembl_prot | ENSP00000405004.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 157736446 |
| end | 157876330 |
| strand | - |
| ver | v1.2 |
| region | chr2:157736446-157876330 |
| region5000 | chr2:157731446-157881330 |
| regionname0 | ACVR1_chr2_157736446_157876330 |
| regionname5000 | ACVR1_chr2_157731446_157881330 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 1527 | 71 | 5 | 11 | 40 | 5 | 9 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 | ||
| a0001c0002 | 0/0 | 1527 | 67 | 44 | 5 | 7 | 1 | 10 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 | ||
| a0001c0003 | 1/0 | 1527 | 16 | 14 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 | ||
| a0001c0004 | 0/0 | 1527 | 7 | 7 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 | ||
| a0001c0005 | 0/0 | 1527 | 7 | 2 | 2 | 3 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 | ||
| a0001c0006 | 0/0 | 1527 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | ATGGT others(1522): Show |
chr2 | 157731446 | 157881330 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3332 | 22 | 3 | 2 | 14 | 0 | 3 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0002 | 0/1 | 3332 | 39 | 2 | 6 | 23 | 3 | 4 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0004 | 0/0 | 3338 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0007 | 0/0 | 3332 | 2 | 0 | 0 | 0 | 2 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0010 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0012 | 0/0 | 3342 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3337): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0013 | 0/0 | 3338 | 2 | 0 | 1 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0014 | 0/0 | 3332 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0001t0016 | 0/0 | 3332 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0001 | 0/0 | 3332 | 33 | 24 | 2 | 1 | 1 | 5 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0002 | 0/0 | 3332 | 8 | 0 | 1 | 4 | 0 | 3 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0003 | 0/0 | 3332 | 11 | 10 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0004 | 0/0 | 3338 | 4 | 3 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0005 | 0/0 | 3332 | 3 | 1 | 0 | 0 | 0 | 2 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0007 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0010 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0011 | 0/0 | 3332 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0015 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0017 | 0/0 | 3332 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0018 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0002t0020 | 0/0 | 3338 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0001 | 0/0 | 3332 | 9 | 9 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0002 | 1/0 | 3332 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0003 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0004 | 0/0 | 3338 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0005 | 0/0 | 3332 | 2 | 1 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0003t0019 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0004t0008 | 0/0 | 3332 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0004t0009 | 0/0 | 3332 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0004t0021 | 0/0 | 3338 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0005t0001 | 0/0 | 3332 | 4 | 1 | 1 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0005t0003 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0005t0004 | 0/0 | 3338 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3333): Show |
chr2 | 157731446 | 157881330 |
| a0001c0005t0005 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| a0001c0006t0006 | 0/0 | 3332 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | GCTCT others(3327): Show |
chr2 | 157731446 | 157881330 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0141 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0004g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0007g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0007g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0010g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0012g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0012g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0013g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0013g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0014g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0001t0016g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0002g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0003g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0004g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0004g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0004g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0004g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0005g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0005g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0005g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0007g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0010g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0011g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0011g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0015g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0017g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0018g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0002t0020g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0002g0018 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0003g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0004g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0004g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0005g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0003t0019g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0008g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0008g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0008g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0009g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0009g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0009g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0004t0021g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0003g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0004g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0005t0005g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| a0001c0006t0006g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0080 | EUR | GBR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00099 | hp2 | a0001 | c0002 | t0001 | g0089 | EUR | GBR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0068 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0129 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0151 | EAS | CHS | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00735 | hp1 | a0001 | c0001 | t0004 | g0164 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0049 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01074 | hp1 | a0001 | c0002 | t0010 | g0008 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0072 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01168 | hp1 | a0001 | c0005 | t0001 | g0064 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01168 | hp2 | a0001 | c0001 | t0010 | g0003 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01169 | hp1 | a0001 | c0005 | t0005 | g0004 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01169 | hp2 | a0001 | c0002 | t0002 | g0147 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01243 | hp1 | a0001 | c0001 | t0002 | g0055 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01243 | hp2 | a0001 | c0002 | t0001 | g0142 | AMR | PUR | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0041 | AMR | CLM | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0052 | AMR | CLM | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0048 | AMR | CLM | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01261 | hp2 | a0001 | c0002 | t0003 | g0159 | AMR | CLM | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01884 | hp2 | a0001 | c0002 | t0005 | g0002 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01891 | hp1 | a0001 | c0002 | t0007 | g0063 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01891 | hp2 | a0001 | c0002 | t0001 | g0134 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PEL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG01978 | hp2 | a0001 | c0002 | t0001 | g0090 | AMR | PEL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02004 | hp1 | a0001 | c0001 | t0013 | g0166 | AMR | PEL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0067 | AMR | PEL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02040 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02055 | hp1 | a0001 | c0003 | t0005 | g0005 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02055 | hp2 | a0001 | c0002 | t0011 | g0009 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02074 | hp1 | a0001 | c0001 | t0002 | g0050 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02074 | hp2 | a0001 | c0005 | t0001 | g0123 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0120 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0113 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0039 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0119 | EAS | KHV | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02145 | hp1 | a0001 | c0002 | t0003 | g0017 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02145 | hp2 | a0001 | c0002 | t0001 | g0027 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | CDX | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02155 | hp2 | a0001 | c0002 | t0002 | g0132 | EAS | CDX | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | CDX | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0118 | EAS | CDX | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02257 | hp1 | a0001 | c0004 | t0008 | g0110 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02257 | hp2 | a0001 | c0002 | t0003 | g0155 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0019 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02258 | hp2 | a0001 | c0002 | t0011 | g0010 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02451 | hp1 | a0001 | c0003 | t0001 | g0021 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02451 | hp2 | a0001 | c0002 | t0003 | g0158 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02622 | hp1 | a0001 | c0002 | t0001 | g0026 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02622 | hp2 | a0001 | c0002 | t0001 | g0024 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02647 | hp1 | a0001 | c0002 | t0020 | g0163 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02698 | hp1 | a0001 | c0002 | t0005 | g0006 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02698 | hp2 | a0001 | c0002 | t0001 | g0091 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02717 | hp1 | a0001 | c0002 | t0001 | g0101 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02717 | hp2 | a0001 | c0002 | t0001 | g0032 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02809 | hp1 | a0001 | c0002 | t0001 | g0100 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0035 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02895 | hp1 | a0001 | c0003 | t0001 | g0023 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02895 | hp2 | a0001 | c0002 | t0001 | g0149 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02897 | hp1 | a0001 | c0002 | t0003 | g0096 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02897 | hp2 | a0001 | c0002 | t0001 | g0150 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02922 | hp1 | a0001 | c0004 | t0021 | g0171 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02922 | hp2 | a0001 | c0003 | t0001 | g0136 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02965 | hp1 | a0001 | c0002 | t0001 | g0034 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02965 | hp2 | a0001 | c0003 | t0004 | g0168 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02970 | hp1 | a0001 | c0002 | t0018 | g0148 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02970 | hp2 | a0001 | c0002 | t0003 | g0130 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02976 | hp1 | a0001 | c0002 | t0001 | g0025 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0037 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03041 | hp1 | a0001 | c0003 | t0001 | g0104 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03041 | hp2 | a0001 | c0002 | t0001 | g0098 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03098 | hp1 | a0001 | c0004 | t0008 | g0030 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03098 | hp2 | a0001 | c0006 | t0006 | g0022 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03130 | hp1 | a0001 | c0002 | t0001 | g0099 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03130 | hp2 | a0001 | c0003 | t0019 | g0143 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03195 | hp1 | a0001 | c0006 | t0006 | g0121 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03195 | hp2 | a0001 | c0002 | t0004 | g0169 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03209 | hp1 | a0001 | c0002 | t0001 | g0038 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03209 | hp2 | a0001 | c0004 | t0009 | g0161 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0070 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03225 | hp2 | a0001 | c0002 | t0001 | g0107 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03453 | hp1 | a0001 | c0002 | t0004 | g0173 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03453 | hp2 | a0001 | c0002 | t0003 | g0135 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03486 | hp1 | a0001 | c0003 | t0001 | g0139 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03486 | hp2 | a0001 | c0003 | t0004 | g0167 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03491 | hp1 | a0001 | c0002 | t0002 | g0084 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0058 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03492 | hp1 | a0001 | c0001 | t0016 | g0152 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03492 | hp2 | a0001 | c0002 | t0002 | g0085 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03516 | hp1 | a0001 | c0004 | t0009 | g0083 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03516 | hp2 | a0001 | c0005 | t0003 | g0138 | AFR | ESN | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03540 | hp1 | a0001 | c0004 | t0008 | g0111 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03540 | hp2 | a0001 | c0002 | t0001 | g0036 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03579 | hp1 | a0001 | c0003 | t0001 | g0071 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03579 | hp2 | a0001 | c0002 | t0003 | g0094 | AFR | MSL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0045 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03654 | hp2 | a0001 | c0002 | t0005 | g0001 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0154 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03704 | hp2 | a0001 | c0002 | t0001 | g0066 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0062 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03710 | hp2 | a0001 | c0002 | t0001 | g0059 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | BEB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | BEB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0028 | SAS | BEB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG03927 | hp2 | a0001 | c0001 | t0013 | g0165 | SAS | BEB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG04228 | hp1 | a0001 | c0003 | t0005 | g0007 | SAS | STU | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0040 | SAS | STU | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18906 | hp1 | a0001 | c0002 | t0004 | g0170 | AFR | YRI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18906 | hp2 | a0001 | c0004 | t0009 | g0162 | AFR | YRI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0069 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18942 | hp2 | a0001 | c0001 | t0014 | g0087 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0153 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18950 | hp1 | a0001 | c0001 | t0002 | g0128 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18951 | hp1 | a0001 | c0002 | t0017 | g0122 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18954 | hp2 | a0001 | c0001 | t0002 | g0074 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18956 | hp2 | a0001 | c0001 | t0012 | g0012 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18960 | hp1 | a0001 | c0005 | t0001 | g0073 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18960 | hp2 | a0001 | c0001 | t0012 | g0011 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18963 | hp1 | a0001 | c0002 | t0002 | g0077 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18965 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18965 | hp2 | a0001 | c0002 | t0001 | g0124 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18978 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18978 | hp2 | a0001 | c0002 | t0004 | g0172 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18980 | hp1 | a0001 | c0001 | t0002 | g0081 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA18981 | hp2 | a0001 | c0002 | t0002 | g0061 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19030 | hp1 | a0001 | c0002 | t0015 | g0095 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19030 | hp2 | a0001 | c0002 | t0001 | g0146 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19043 | hp1 | a0001 | c0002 | t0003 | g0015 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0125 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0126 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19074 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19075 | hp1 | a0001 | c0002 | t0002 | g0044 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19075 | hp2 | a0001 | c0005 | t0004 | g0174 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | YRI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA19240 | hp2 | a0001 | c0006 | t0006 | g0103 | AFR | YRI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20129 | hp1 | a0001 | c0003 | t0001 | g0016 | AFR | ASW | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20129 | hp2 | a0001 | c0006 | t0006 | g0102 | AFR | ASW | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0078 | EUR | TSI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20752 | hp2 | a0001 | c0001 | t0007 | g0075 | EUR | TSI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0076 | EUR | TSI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20805 | hp2 | a0001 | c0001 | t0007 | g0112 | EUR | TSI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0060 | SAS | GIH | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20905 | hp2 | a0001 | c0001 | t0002 | g0086 | SAS | GIH | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02109 | hp1 | a0001 | c0006 | t0006 | g0160 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02109 | hp2 | a0001 | c0003 | t0001 | g0014 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0029 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02486 | hp2 | a0001 | c0002 | t0001 | g0145 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02559 | hp1 | a0001 | c0003 | t0003 | g0144 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0031 | AFR | ACB | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG06807 | hp1 | a0001 | c0002 | t0003 | g0133 | AFR | USA | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| HG06807 | hp2 | a0001 | c0006 | t0006 | g0140 | AFR | USA | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20300 | hp1 | a0001 | c0002 | t0001 | g0033 | AFR | USA | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA20300 | hp2 | a0001 | c0002 | t0003 | g0156 | AFR | USA | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0131 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| NA21309 | hp2 | a0001 | c0005 | t0001 | g0157 | AFR | LWK | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0141 | REF | REF | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| homoSapiens | grch38p0 | a0001 | c0003 | t0002 | g0018 | REF | REF | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157737548 | A | G | 1 | a0001c0004 | 7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
synonymous_variant | LOW | c.1513T>C | p.Leu505Leu | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 2230/3332 | 1513/1530 | 505/509 | chr2 | 157737548 | |||
| chr2:157761013 | G | A | 1 | a0001c0006 | 6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
synonymous_variant | LOW | c.1131C>T | p.Gly377Gly | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/11 | 1848/3332 | 1131/1530 | 377/509 | chr2 | 157761013 | |||
| chr2:157770468 | C | T | 4 | a0001c0001 a0001c0002 a0001c0004 others(1): Show |
150 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
synonymous_variant | LOW | c.690G>A | p.Glu230Glu | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/11 | 1407/3332 | 690/1530 | 230/509 | chr2 | 157770468 | |||
| chr2:157780398 | G | A | 2 | a0001c0001 a0001c0005 |
77 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(74): Show |
synonymous_variant | LOW | c.270C>T | p.Ala90Ala | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/11 | 987/3332 | 270/1530 | 90/509 | chr2 | 157780398 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157736740 | T | A | 3 | a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*791A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 791 | chr2 | 157736740 | ||||||
| chr2:157736845 | A | G | 24 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(21): Show |
115 | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(112): Show |
3_prime_UTR_variant | MODIFIER | c.*686T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 686 | chr2 | 157736845 | ||||||
| chr2:157737217 | T | G | 1 | a0001c0002t0017 | 1 | NA18951.hp1 | 3_prime_UTR_variant | MODIFIER | c.*314A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 314 | chr2 | 157737217 | ||||||
| chr2:157737250 | C | A | 1 | a0001c0002t0018 | 1 | HG02970.hp1 | 3_prime_UTR_variant | MODIFIER | c.*281G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 281 | chr2 | 157737250 | ||||||
| chr2:157737348 | C | T | 1 | a0001c0001t0016 | 1 | HG03492.hp1 | 3_prime_UTR_variant | MODIFIER | c.*183G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 183 | chr2 | 157737348 | ||||||
| chr2:157737393 | C | T | 2 | a0001c0001t0007 a0001c0002t0007 |
3 | HG01891.hp1 NA20752.hp2 NA20805.hp2 |
3_prime_UTR_variant | MODIFIER | c.*138G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 138 | chr2 | 157737393 | ||||||
| chr2:157737486 | C | A | 1 | a0001c0006t0006 | 6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*45G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 11/11 | 45 | chr2 | 157737486 | ||||||
| chr2:157818390 | T | C | 1 | a0001c0003t0019 | 1 | HG03130.hp2 | 5_prime_UTR_variant | MODIFIER | c.-13A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18897 | chr2 | 157818390 | ||||||
| chr2:157818430 | G | A | 7 | a0001c0002t0003 a0001c0002t0015 a0001c0002t0020 others(4): Show |
19 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-53C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18937 | chr2 | 157818430 | ||||||
| chr2:157818457 | C | G | 1 | a0001c0002t0015 | 1 | NA19030.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-80G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | chr2 | 157818457 | |||||||
| chr2:157818468 | G | T | 1 | a0001c0001t0014 | 1 | NA18942.hp2 | 5_prime_UTR_variant | MODIFIER | c.-91C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18975 | chr2 | 157818468 | ||||||
| chr2:157875868 | C | CGCGGCGC others(3): Show |
1 | a0001c0001t0012 | 2 | NA18956.hp2 NA18960.hp2 |
5_prime_UTR_variant | MODIFIER | c.-265_-256dupCCCGCG others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76376 | chr2 | 157875868 | ||||||
| chr2:157876031 | G | T | 1 | a0001c0002t0011 | 2 | HG02055.hp2 HG02258.hp2 |
5_prime_UTR_variant | MODIFIER | c.-418C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76538 | chr2 | 157876031 | ||||||
| chr2:157876051 | G | T | 5 | a0001c0001t0010 a0001c0002t0005 a0001c0002t0010 others(2): Show |
8 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-438C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76558 | chr2 | 157876051 | ||||||
| chr2:157876303 | T | TGCGGCG | 7 | a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 others(4): Show |
12 | HG00735.hp1 HG02004.hp1 HG02647.hp1 others(9): Show |
5_prime_UTR_variant | MODIFIER | c.-696_-691dupCGCCGC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76811 | chr2 | 157876303 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157737758 | C | T | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1396-93G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 10/10 | chr2 | 157737758 | |||||||
| chr2:157737803 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1396-138G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 10/10 | chr2 | 157737803 | |||||||
| chr2:157737896 | T | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1396-231A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 10/10 | chr2 | 157737896 | |||||||
| chr2:157738033 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1396-368C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 10/10 | chr2 | 157738033 | |||||||
| chr2:157738291 | T | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1395+149A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 10/10 | chr2 | 157738291 | |||||||
| chr2:157739036 | T | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1265-466A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739036 | |||||||
| chr2:157739051 | C | T | 93 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(90): Show |
93 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.1265-481G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739051 | |||||||
| chr2:157739114 | G | A | 2 | a0001c0001t0002g0080 a0001c0001t0013g0165 |
2 | HG00099.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.1265-544C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739114 | |||||||
| chr2:157739279 | C | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-709G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739279 | |||||||
| chr2:157739537 | G | A | 2 | a0001c0002t0001g0032 a0001c0002t0001g0107 |
2 | HG02717.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1265-967C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739537 | |||||||
| chr2:157739632 | G | GAC | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-1063_1265-106 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739632 | |||||||
| chr2:157739655 | T | A | 1 | a0001c0003t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1265-1085A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739655 | |||||||
| chr2:157739685 | G | T | 28 | a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0004g0164 others(25): Show |
28 | HG00735.hp1 HG02040.hp1 HG02145.hp1 others(25): Show |
intron_variant | MODIFIER | c.1265-1115C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739685 | |||||||
| chr2:157739917 | G | A | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-1347C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739917 | |||||||
| chr2:157739939 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-1369G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739939 | |||||||
| chr2:157739942 | T | C | 2 | a0001c0002t0003g0159 a0001c0002t0005g0002 |
2 | HG01261.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.1265-1372A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157739942 | |||||||
| chr2:157740140 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-1570T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740140 | |||||||
| chr2:157740174 | G | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-1604C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740174 | |||||||
| chr2:157740184 | CA | C | 91 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(88): Show |
91 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(88): Show |
intron_variant | MODIFIER | c.1265-1615delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740184 | |||||||
| chr2:157740753 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-2183T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740753 | |||||||
| chr2:157740784 | G | A | 1 | a0001c0001t0014g0087 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1265-2214C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740784 | |||||||
| chr2:157740899 | C | T | 3 | a0001c0001t0002g0074 a0001c0001t0002g0126 a0001c0002t0002g0044 |
3 | NA18954.hp2 NA19074.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1265-2329G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157740899 | |||||||
| chr2:157741150 | T | G | 1 | a0001c0001t0002g0120 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1265-2580A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741150 | |||||||
| chr2:157741345 | G | C | 1 | a0001c0002t0001g0028 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1265-2775C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741345 | |||||||
| chr2:157741366 | G | A | 2 | a0001c0002t0001g0032 a0001c0002t0001g0107 |
2 | HG02717.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1265-2796C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741366 | |||||||
| chr2:157741609 | C | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-3039G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741609 | |||||||
| chr2:157741630 | GA | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-3061delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741630 | |||||||
| chr2:157741832 | T | C | 1 | a0001c0002t0011g0009 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1265-3262A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741832 | |||||||
| chr2:157741901 | G | C | 1 | a0001c0002t0001g0028 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1265-3331C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157741901 | |||||||
| chr2:157742114 | G | A | 1 | a0001c0001t0001g0051 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1265-3544C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157742114 | |||||||
| chr2:157742348 | T | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-3778A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157742348 | |||||||
| chr2:157742430 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-3860T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157742430 | |||||||
| chr2:157742733 | T | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1265-4163A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157742733 | |||||||
| chr2:157742754 | T | C | 5 | a0001c0004t0008g0030 a0001c0004t0009g0083 a0001c0004t0009g0161 others(2): Show |
5 | HG02922.hp1 HG03098.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.1265-4184A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157742754 | |||||||
| chr2:157743422 | G | A | 4 | a0001c0002t0001g0031 a0001c0002t0001g0100 a0001c0002t0004g0169 others(1): Show |
4 | HG02559.hp2 HG02809.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1265-4852C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157743422 | |||||||
| chr2:157743518 | T | C | 2 | a0001c0002t0001g0059 a0001c0002t0001g0060 |
2 | HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1265-4948A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157743518 | |||||||
| chr2:157743610 | C | T | 8 | a0001c0002t0001g0036 a0001c0002t0001g0099 a0001c0002t0003g0015 others(5): Show |
8 | HG02145.hp1 HG02897.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1265-5040G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157743610 | |||||||
| chr2:157743754 | A | C | 8 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(5): Show |
8 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1265-5184T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157743754 | |||||||
| chr2:157744136 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-5566G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744136 | |||||||
| chr2:157744258 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-5688G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744258 | |||||||
| chr2:157744343 | G | T | 1 | a0001c0003t0005g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1265-5773C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744343 | |||||||
| chr2:157744390 | A | C | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1265-5820T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744390 | |||||||
| chr2:157744543 | A | C | 1 | a0001c0001t0002g0039 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1265-5973T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744543 | |||||||
| chr2:157744768 | G | A | 1 | a0001c0003t0001g0023 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1265-6198C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157744768 | |||||||
| chr2:157745029 | C | T | 2 | a0001c0001t0002g0043 a0001c0001t0002g0097 |
2 | NA18965.hp1 NA18978.hp1 |
intron_variant | MODIFIER | c.1265-6459G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157745029 | |||||||
| chr2:157745294 | AC | A | 5 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.1265-6725delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157745294 | |||||||
| chr2:157745619 | C | T | 3 | a0001c0003t0001g0023 a0001c0003t0004g0167 a0001c0005t0001g0157 |
3 | HG02895.hp1 HG03486.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1265-7049G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157745619 | |||||||
| chr2:157745726 | C | T | 1 | a0001c0001t0002g0113 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1265-7156G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157745726 | |||||||
| chr2:157745924 | C | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1265-7354G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157745924 | |||||||
| chr2:157746031 | T | C | 1 | a0001c0002t0003g0015 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1265-7461A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746031 | |||||||
| chr2:157746196 | G | A | 8 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(5): Show |
8 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.1265-7626C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746196 | |||||||
| chr2:157746287 | G | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1265-7717C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746287 | |||||||
| chr2:157746366 | CAG | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-7798_1265-779 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746366 | |||||||
| chr2:157746454 | G | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1265-7884C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746454 | |||||||
| chr2:157746498 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-7928T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746498 | |||||||
| chr2:157746644 | C | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1265-8074G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746644 | |||||||
| chr2:157746775 | T | G | 1 | a0001c0001t0002g0153 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1265-8205A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746775 | |||||||
| chr2:157746804 | G | A | 93 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(90): Show |
93 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.1265-8234C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746804 | |||||||
| chr2:157746830 | A | C | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1265-8260T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746830 | |||||||
| chr2:157746886 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-8316G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746886 | |||||||
| chr2:157746984 | TA | T | 13 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(10): Show |
13 | HG02109.hp1 HG02257.hp1 HG02922.hp1 others(10): Show |
intron_variant | MODIFIER | c.1265-8415delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157746984 | |||||||
| chr2:157747044 | T | A | 93 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(90): Show |
93 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.1265-8474A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747044 | |||||||
| chr2:157747376 | T | C | 1 | a0001c0004t0008g0110 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1265-8806A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747376 | |||||||
| chr2:157747544 | T | C | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1265-8974A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747544 | |||||||
| chr2:157747616 | A | C | 2 | a0001c0003t0001g0023 a0001c0005t0001g0157 |
2 | HG02895.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1265-9046T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747616 | |||||||
| chr2:157747637 | T | C | 1 | a0001c0003t0004g0167 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1265-9067A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747637 | |||||||
| chr2:157747752 | T | TG | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1265-9183dupC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747752 | |||||||
| chr2:157747754 | T | G | 9 | a0001c0002t0002g0061 a0001c0002t0002g0077 a0001c0004t0008g0030 others(6): Show |
9 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.1265-9184A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747754 | |||||||
| chr2:157747814 | C | CA | 34 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 others(31): Show |
34 | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(31): Show |
intron_variant | MODIFIER | c.1265-9245dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157747814 | |||||||
| chr2:157748479 | G | A | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1265-9909C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157748479 | |||||||
| chr2:157748631 | T | TA | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1265-10062dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157748631 | |||||||
| chr2:157749011 | T | C | 8 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(5): Show |
8 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1265-10441A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749011 | |||||||
| chr2:157749257 | C | T | 51 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(48): Show |
51 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.1265-10687G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749257 | |||||||
| chr2:157749301 | G | A | 1 | a0001c0001t0002g0058 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1265-10731C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749301 | |||||||
| chr2:157749436 | G | A | 1 | a0001c0003t0001g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1265-10866C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749436 | |||||||
| chr2:157749632 | C | T | 89 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(86): Show |
89 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(86): Show |
intron_variant | MODIFIER | c.1265-11062G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749632 | |||||||
| chr2:157749634 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1265-11064C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749634 | |||||||
| chr2:157749702 | G | A | 2 | a0001c0001t0002g0043 a0001c0001t0002g0097 |
2 | NA18965.hp1 NA18978.hp1 |
intron_variant | MODIFIER | c.1265-11132C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749702 | |||||||
| chr2:157749714 | C | A | 3 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1265-11144G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749714 | |||||||
| chr2:157749778 | G | A | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+11102C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749778 | |||||||
| chr2:157749845 | T | C | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1264+11035A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749845 | |||||||
| chr2:157749976 | T | C | 97 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(94): Show |
97 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(94): Show |
intron_variant | MODIFIER | c.1264+10904A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157749976 | |||||||
| chr2:157750032 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10848G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750032 | |||||||
| chr2:157750086 | C | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1264+10794G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750086 | |||||||
| chr2:157750262 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1264+10618C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750262 | |||||||
| chr2:157750269 | T | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10611A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750269 | |||||||
| chr2:157750568 | C | T | 1 | a0001c0003t0003g0144 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1264+10312G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750568 | |||||||
| chr2:157750647 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10233G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750647 | |||||||
| chr2:157750770 | C | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10110G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750770 | |||||||
| chr2:157750777 | A | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10103T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750777 | |||||||
| chr2:157750827 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+10053T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750827 | |||||||
| chr2:157750829 | T | C | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1264+10051A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750829 | |||||||
| chr2:157750897 | TA | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1264+9982delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750897 | |||||||
| chr2:157750945 | G | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+9935C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157750945 | |||||||
| chr2:157751063 | G | A | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+9817C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751063 | |||||||
| chr2:157751079 | G | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1264+9801C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751079 | |||||||
| chr2:157751303 | G | A | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+9577C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751303 | |||||||
| chr2:157751326 | C | A | 2 | a0001c0001t0002g0046 a0001c0001t0002g0065 |
2 | NA18950.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.1264+9554G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751326 | |||||||
| chr2:157751348 | C | T | 2 | a0001c0001t0002g0046 a0001c0001t0002g0065 |
2 | NA18950.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.1264+9532G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751348 | |||||||
| chr2:157751692 | ACTTCC | A | 2 | a0001c0001t0002g0129 a0001c0001t0012g0011 |
2 | HG00438.hp1 NA18960.hp2 |
intron_variant | MODIFIER | c.1264+9183_1264+918 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751692 | |||||||
| chr2:157751858 | TTCTC | T | 2 | a0001c0002t0018g0148 a0001c0002t0020g0163 |
2 | HG02647.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.1264+9018_1264+902 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751858 | |||||||
| chr2:157751878 | C | T | 1 | a0001c0002t0018g0148 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1264+9002G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751878 | |||||||
| chr2:157751885 | T | G | 2 | a0001c0002t0001g0124 a0001c0002t0004g0172 |
2 | NA18965.hp2 NA18978.hp2 |
intron_variant | MODIFIER | c.1264+8995A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157751885 | |||||||
| chr2:157752034 | G | T | 6 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 others(3): Show |
6 | HG02647.hp2 HG02895.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1264+8846C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157752034 | |||||||
| chr2:157752493 | A | C | 1 | a0001c0001t0001g0056 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1264+8387T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157752493 | |||||||
| chr2:157752694 | G | A | 1 | a0001c0001t0002g0092 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1264+8186C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157752694 | |||||||
| chr2:157752929 | T | C | 2 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1264+7951A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157752929 | |||||||
| chr2:157753110 | G | T | 1 | a0001c0001t0016g0152 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1264+7770C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753110 | |||||||
| chr2:157753261 | G | A | 1 | a0001c0001t0002g0120 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1264+7619C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753261 | |||||||
| chr2:157753265 | C | T | 3 | a0001c0002t0001g0026 a0001c0002t0001g0034 a0001c0002t0001g0035 |
3 | HG02622.hp1 HG02809.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1264+7615G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753265 | |||||||
| chr2:157753279 | C | T | 1 | a0001c0002t0018g0148 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1264+7601G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753279 | |||||||
| chr2:157753295 | C | A | 1 | a0001c0002t0001g0029 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1264+7585G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753295 | |||||||
| chr2:157753384 | T | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+7496A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753384 | |||||||
| chr2:157753937 | G | A | 1 | a0001c0001t0002g0039 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1264+6943C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157753937 | |||||||
| chr2:157754203 | T | C | 5 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(2): Show |
5 | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.1264+6677A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754203 | |||||||
| chr2:157754293 | A | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+6587T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754293 | |||||||
| chr2:157754511 | G | A | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1264+6369C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754511 | |||||||
| chr2:157754561 | A | C | 2 | a0001c0002t0001g0059 a0001c0002t0001g0060 |
2 | HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1264+6319T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754561 | |||||||
| chr2:157754754 | T | C | 9 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1264+6126A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754754 | |||||||
| chr2:157754756 | C | T | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1264+6124G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754756 | |||||||
| chr2:157754803 | C | G | 1 | a0001c0002t0004g0172 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.1264+6077G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754803 | |||||||
| chr2:157754819 | CA | C | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1264+6060delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157754819 | |||||||
| chr2:157755003 | A | G | 2 | a0001c0001t0002g0046 a0001c0001t0002g0065 |
2 | NA18950.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.1264+5877T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755003 | |||||||
| chr2:157755257 | C | A | 1 | a0001c0001t0013g0166 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1264+5623G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755257 | |||||||
| chr2:157755523 | A | AATACC | 13 | a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0062 others(10): Show |
13 | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.1264+5352_1264+535 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755523 | |||||||
| chr2:157755523 | A | AATACCAT others(3): Show |
1 | a0001c0001t0001g0114 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1264+5347_1264+535 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755523 | |||||||
| chr2:157755523 | AATACC | A | 16 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0002t0001g0024 others(13): Show |
16 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.1264+5352_1264+535 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755523 | |||||||
| chr2:157755523 | AATACCAT others(3): Show |
A | 68 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(65): Show |
68 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(65): Show |
intron_variant | MODIFIER | c.1264+5347_1264+535 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755523 | |||||||
| chr2:157755523 | AATACCAT others(8): Show |
A | 14 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(11): Show |
14 | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.1264+5342_1264+535 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755523 | |||||||
| chr2:157755544 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5336T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755544 | |||||||
| chr2:157755549 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5331T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755549 | |||||||
| chr2:157755554 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5326T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755554 | |||||||
| chr2:157755559 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5321T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755559 | |||||||
| chr2:157755564 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5316T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755564 | |||||||
| chr2:157755574 | A | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5306T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755574 | |||||||
| chr2:157755578 | A | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5302T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755578 | |||||||
| chr2:157755711 | A | G | 1 | a0001c0001t0002g0043 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.1264+5169T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755711 | |||||||
| chr2:157755750 | T | G | 11 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.1264+5130A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755750 | |||||||
| chr2:157755810 | G | A | 14 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(11): Show |
14 | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.1264+5070C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755810 | |||||||
| chr2:157755823 | G | A | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+5057C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755823 | |||||||
| chr2:157755846 | T | C | 13 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(10): Show |
13 | HG02109.hp1 HG02257.hp1 HG02922.hp1 others(10): Show |
intron_variant | MODIFIER | c.1264+5034A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755846 | |||||||
| chr2:157755970 | C | T | 111 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(108): Show |
111 | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(108): Show |
intron_variant | MODIFIER | c.1264+4910G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157755970 | |||||||
| chr2:157756266 | C | G | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+4614G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756266 | |||||||
| chr2:157756349 | A | G | 1 | a0001c0001t0002g0070 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1264+4531T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756349 | |||||||
| chr2:157756491 | C | T | 13 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(10): Show |
13 | HG02109.hp1 HG02257.hp1 HG02922.hp1 others(10): Show |
intron_variant | MODIFIER | c.1264+4389G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756491 | |||||||
| chr2:157756624 | A | G | 24 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(21): Show |
24 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1264+4256T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756624 | |||||||
| chr2:157756930 | A | C | 9 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1264+3950T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756930 | |||||||
| chr2:157756965 | A | G | 3 | a0001c0001t0002g0074 a0001c0001t0002g0126 a0001c0002t0002g0044 |
3 | NA18954.hp2 NA19074.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1264+3915T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756965 | |||||||
| chr2:157756973 | T | TTA | 9 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1264+3905_1264+390 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756973 | |||||||
| chr2:157756973 | T | TTATA | 3 | a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0001g0157 |
3 | HG03041.hp1 HG03486.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1264+3903_1264+390 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756973 | |||||||
| chr2:157756976 | TATATATA others(8): Show |
T | 8 | a0001c0002t0001g0036 a0001c0002t0001g0099 a0001c0002t0003g0015 others(5): Show |
8 | HG02145.hp1 HG02897.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1264+3889_1264+390 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756976 | |||||||
| chr2:157756991 | G | A | 2 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1264+3889C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157756991 | |||||||
| chr2:157757010 | T | G | 1 | a0001c0001t0002g0076 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1264+3870A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757010 | |||||||
| chr2:157757021 | G | GAT | 8 | a0001c0001t0001g0114 a0001c0001t0002g0039 a0001c0001t0012g0012 others(5): Show |
8 | HG02132.hp2 HG02647.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1264+3857_1264+385 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757021 | |||||||
| chr2:157757021 | G | GATAT | 7 | a0001c0001t0004g0164 a0001c0003t0001g0104 a0001c0003t0003g0144 others(4): Show |
7 | HG00735.hp1 HG02559.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+3855_1264+385 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757021 | |||||||
| chr2:157757021 | G | GATATATA others(1): Show |
3 | a0001c0005t0001g0064 a0001c0005t0001g0123 a0001c0005t0005g0004 |
3 | HG01168.hp1 HG01169.hp1 HG02074.hp2 |
intron_variant | MODIFIER | c.1264+3851_1264+385 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757021 | |||||||
| chr2:157757021 | G | GATATATA others(5): Show |
1 | a0001c0003t0005g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1264+3847_1264+385 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757021 | |||||||
| chr2:157757029 | T | TATATATA others(6): Show |
7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+3850_1264+385 others(17): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757029 | |||||||
| chr2:157757039 | TATATAA | T | 3 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1264+3835_1264+384 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757039 | |||||||
| chr2:157757041 | TATAA | T | 4 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0002t0001g0124 others(1): Show |
4 | NA18965.hp2 NA18978.hp2 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1264+3835_1264+383 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757041 | |||||||
| chr2:157757043 | TAA | T | 58 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0051 others(55): Show |
58 | HG00438.hp2 HG01255.hp1 HG01891.hp2 others(55): Show |
intron_variant | MODIFIER | c.1264+3835_1264+383 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757043 | |||||||
| chr2:157757045 | A | T | 42 | a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0114 others(39): Show |
42 | HG00099.hp2 HG00735.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.1264+3835T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757045 | |||||||
| chr2:157757182 | T | C | 5 | a0001c0004t0008g0030 a0001c0004t0009g0083 a0001c0004t0009g0161 others(2): Show |
5 | HG02922.hp1 HG03098.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.1264+3698A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757182 | |||||||
| chr2:157757379 | A | C | 1 | a0001c0001t0001g0051 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1264+3501T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757379 | |||||||
| chr2:157757445 | A | AT | 8 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(5): Show |
8 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1264+3434dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757445 | |||||||
| chr2:157757694 | G | A | 2 | a0001c0001t0002g0067 a0001c0001t0002g0153 |
2 | HG02004.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.1264+3186C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757694 | |||||||
| chr2:157757922 | G | T | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+2958C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757922 | |||||||
| chr2:157757965 | T | C | 2 | a0001c0002t0002g0061 a0001c0002t0002g0077 |
2 | NA18963.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.1264+2915A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157757965 | |||||||
| chr2:157758219 | T | C | 1 | a0001c0001t0007g0075 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1264+2661A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758219 | |||||||
| chr2:157758351 | T | A | 6 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 others(3): Show |
6 | HG02647.hp2 HG02895.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1264+2529A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758351 | |||||||
| chr2:157758364 | C | A | 8 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(5): Show |
8 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.1264+2516G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758364 | |||||||
| chr2:157758420 | G | T | 7 | a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0005t0001g0064 others(4): Show |
7 | HG01168.hp1 HG01169.hp1 HG02074.hp2 others(4): Show |
intron_variant | MODIFIER | c.1264+2460C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758420 | |||||||
| chr2:157758789 | A | G | 1 | a0001c0001t0002g0118 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1264+2091T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758789 | |||||||
| chr2:157758887 | G | A | 7 | a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0005t0001g0064 others(4): Show |
7 | HG01168.hp1 HG01169.hp1 HG02074.hp2 others(4): Show |
intron_variant | MODIFIER | c.1264+1993C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758887 | |||||||
| chr2:157758947 | T | G | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1264+1933A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157758947 | |||||||
| chr2:157759010 | G | A | 1 | a0001c0002t0003g0015 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1264+1870C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759010 | |||||||
| chr2:157759173 | T | C | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1264+1707A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759173 | |||||||
| chr2:157759247 | C | G | 7 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1264+1633G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759247 | |||||||
| chr2:157759454 | G | A | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1264+1426C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759454 | |||||||
| chr2:157759487 | A | C | 2 | a0001c0003t0001g0104 a0001c0003t0004g0167 |
2 | HG03041.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1264+1393T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759487 | |||||||
| chr2:157759603 | A | G | 8 | a0001c0001t0001g0114 a0001c0003t0001g0136 a0001c0003t0005g0007 others(5): Show |
8 | HG01168.hp1 HG01169.hp1 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.1264+1277T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759603 | |||||||
| chr2:157759852 | T | C | 1 | a0001c0001t0002g0118 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1264+1028A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759852 | |||||||
| chr2:157759970 | C | T | 7 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 others(4): Show |
7 | HG02647.hp2 HG02895.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1264+910G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157759970 | |||||||
| chr2:157760178 | A | G | 1 | a0001c0001t0002g0067 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1264+702T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157760178 | |||||||
| chr2:157760260 | G | A | 1 | a0001c0001t0002g0080 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1264+620C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157760260 | |||||||
| chr2:157760529 | A | G | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1264+351T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157760529 | |||||||
| chr2:157760769 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1264+111G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | 157760769 | |||||||
| chr2:157761302 | A | G | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1067-225T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761302 | |||||||
| chr2:157761491 | C | A | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1067-414G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761491 | |||||||
| chr2:157761686 | T | C | 8 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(5): Show |
8 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.1067-609A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761686 | |||||||
| chr2:157761687 | T | C | 7 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1067-610A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761687 | |||||||
| chr2:157761769 | G | A | 2 | a0001c0006t0006g0102 a0001c0006t0006g0103 |
2 | NA19240.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1067-692C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761769 | |||||||
| chr2:157761791 | G | A | 1 | a0001c0001t0002g0113 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1067-714C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761791 | |||||||
| chr2:157761887 | T | C | 2 | a0001c0002t0002g0084 a0001c0002t0002g0085 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1067-810A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157761887 | |||||||
| chr2:157762105 | C | T | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1067-1028G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157762105 | |||||||
| chr2:157762204 | T | C | 8 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(5): Show |
8 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1067-1127A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157762204 | |||||||
| chr2:157762207 | A | G | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1067-1130T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157762207 | |||||||
| chr2:157762515 | A | G | 1 | a0001c0003t0004g0167 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1067-1438T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157762515 | |||||||
| chr2:157763060 | T | C | 4 | a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0005t0001g0064 others(1): Show |
4 | HG01168.hp1 HG01169.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1067-1983A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763060 | |||||||
| chr2:157763123 | T | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1067-2046A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763123 | |||||||
| chr2:157763303 | T | C | 1 | a0001c0001t0002g0081 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1067-2226A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763303 | |||||||
| chr2:157763404 | C | T | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1067-2327G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763404 | |||||||
| chr2:157763600 | A | G | 2 | a0001c0002t0002g0084 a0001c0002t0002g0085 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1066+2321T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763600 | |||||||
| chr2:157763645 | C | T | 1 | a0001c0001t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1066+2276G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763645 | |||||||
| chr2:157763758 | A | G | 8 | a0001c0001t0001g0114 a0001c0003t0001g0136 a0001c0003t0005g0007 others(5): Show |
8 | HG01168.hp1 HG01169.hp1 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.1066+2163T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157763758 | |||||||
| chr2:157764110 | A | C | 3 | a0001c0001t0002g0048 a0001c0002t0007g0063 a0001c0002t0010g0008 |
3 | HG01074.hp1 HG01261.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.1066+1811T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764110 | |||||||
| chr2:157764141 | G | A | 3 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1066+1780C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764141 | |||||||
| chr2:157764194 | T | A | 91 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
91 | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.1066+1727A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764194 | |||||||
| chr2:157764338 | A | G | 4 | a0001c0003t0001g0014 a0001c0003t0001g0019 a0001c0003t0001g0021 others(1): Show |
4 | HG02109.hp2 HG02258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1066+1583T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764338 | |||||||
| chr2:157764363 | C | CT | 6 | a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0002g0092 others(3): Show |
6 | HG00558.hp1 HG00558.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066+1557dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764363 | |||||||
| chr2:157764363 | CT | C | 13 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(10): Show |
13 | HG02109.hp1 HG02257.hp1 HG02922.hp1 others(10): Show |
intron_variant | MODIFIER | c.1066+1557delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764363 | |||||||
| chr2:157764369 | T | C | 1 | a0001c0001t0002g0129 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1066+1552A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764369 | |||||||
| chr2:157764580 | T | C | 2 | a0001c0003t0001g0023 a0001c0005t0001g0157 |
2 | HG02895.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1066+1341A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764580 | |||||||
| chr2:157764844 | G | T | 34 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 others(31): Show |
34 | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(31): Show |
intron_variant | MODIFIER | c.1066+1077C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764844 | |||||||
| chr2:157764863 | T | C | 2 | a0001c0004t0008g0110 a0001c0004t0008g0111 |
2 | HG02257.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1066+1058A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764863 | |||||||
| chr2:157764926 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1066+995G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157764926 | |||||||
| chr2:157765257 | C | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066+664G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157765257 | |||||||
| chr2:157765383 | A | T | 7 | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0004g0167 others(4): Show |
7 | HG01168.hp1 HG01169.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1066+538T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157765383 | |||||||
| chr2:157765480 | ACT | A | 2 | a0001c0001t0002g0080 a0001c0001t0013g0165 |
2 | HG00099.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.1066+439_1066+440d others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157765480 | |||||||
| chr2:157765567 | GA | G | 7 | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0004g0167 others(4): Show |
7 | HG01168.hp1 HG01169.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1066+353delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157765567 | |||||||
| chr2:157765760 | T | G | 2 | a0001c0001t0001g0109 a0001c0001t0001g0127 |
2 | HG00408.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.1066+161A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | 157765760 | |||||||
| chr2:157766468 | C | G | 9 | a0001c0002t0001g0036 a0001c0002t0001g0099 a0001c0002t0003g0015 others(6): Show |
9 | HG02145.hp1 HG02897.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.791-272G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157766468 | |||||||
| chr2:157766477 | C | A | 1 | a0001c0001t0002g0076 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.791-281G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157766477 | |||||||
| chr2:157766965 | A | G | 1 | a0001c0002t0001g0066 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.791-769T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157766965 | |||||||
| chr2:157767033 | CTT | C | 16 | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 others(13): Show |
16 | HG01168.hp1 HG01169.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.791-839_791-838del others(2): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767033 | |||||||
| chr2:157767094 | C | T | 1 | a0001c0001t0001g0114 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.791-898G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767094 | |||||||
| chr2:157767115 | A | T | 91 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
91 | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.791-919T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767115 | |||||||
| chr2:157767191 | C | A | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.791-995G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767191 | |||||||
| chr2:157767235 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.791-1039C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767235 | |||||||
| chr2:157767272 | G | A | 50 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(47): Show |
50 | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.791-1076C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767272 | |||||||
| chr2:157767426 | T | C | 1 | a0001c0003t0004g0167 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.791-1230A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767426 | |||||||
| chr2:157767656 | C | T | 5 | a0001c0004t0008g0030 a0001c0004t0009g0083 a0001c0004t0009g0161 others(2): Show |
5 | HG02922.hp1 HG03098.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.791-1460G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767656 | |||||||
| chr2:157767792 | T | C | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.791-1596A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767792 | |||||||
| chr2:157767810 | T | G | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.791-1614A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767810 | |||||||
| chr2:157767876 | T | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.791-1680A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767876 | |||||||
| chr2:157767877 | C | T | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.791-1681G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767877 | |||||||
| chr2:157767889 | C | T | 16 | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 others(13): Show |
16 | HG01168.hp1 HG01169.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.791-1693G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157767889 | |||||||
| chr2:157768149 | T | A | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.791-1953A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768149 | |||||||
| chr2:157768219 | A | G | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.791-2023T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768219 | |||||||
| chr2:157768237 | A | T | 6 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.791-2041T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768237 | |||||||
| chr2:157768292 | T | C | 10 | a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0004g0164 others(7): Show |
10 | HG00735.hp1 HG02040.hp1 HG02698.hp1 others(7): Show |
intron_variant | MODIFIER | c.790+2076A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768292 | |||||||
| chr2:157768431 | T | C | 9 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.790+1937A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768431 | |||||||
| chr2:157768806 | A | T | 1 | a0001c0002t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.790+1562T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157768806 | |||||||
| chr2:157769000 | G | A | 1 | a0001c0001t0004g0164 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.790+1368C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157769000 | |||||||
| chr2:157769010 | G | A | 9 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.790+1358C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157769010 | |||||||
| chr2:157769494 | C | T | 3 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.790+874G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157769494 | |||||||
| chr2:157769504 | G | C | 1 | a0001c0004t0008g0111 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.790+864C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157769504 | |||||||
| chr2:157770299 | G | A | 3 | a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.790+69C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | 157770299 | |||||||
| chr2:157770934 | C | T | 1 | a0001c0006t0006g0140 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.644-420G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157770934 | |||||||
| chr2:157771054 | C | T | 16 | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 others(13): Show |
16 | HG01168.hp1 HG01169.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.644-540G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771054 | |||||||
| chr2:157771071 | A | G | 11 | a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0033 others(8): Show |
11 | HG02486.hp1 HG02622.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.644-557T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771071 | |||||||
| chr2:157771542 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.644-1028C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771542 | |||||||
| chr2:157771557 | C | T | 1 | a0001c0004t0009g0083 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.644-1043G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771557 | |||||||
| chr2:157771706 | A | C | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.644-1192T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771706 | |||||||
| chr2:157771887 | C | A | 8 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(5): Show |
8 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.644-1373G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771887 | |||||||
| chr2:157771959 | C | G | 1 | a0001c0001t0002g0065 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.644-1445G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157771959 | |||||||
| chr2:157772050 | A | T | 2 | a0001c0001t0002g0049 a0001c0001t0002g0070 |
2 | HG00735.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.644-1536T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772050 | |||||||
| chr2:157772156 | T | C | 8 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(5): Show |
8 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.644-1642A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772156 | |||||||
| chr2:157772237 | A | C | 5 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.644-1723T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772237 | |||||||
| chr2:157772237 | A | G | 144 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(141): Show |
intron_variant | MODIFIER | c.644-1723T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772237 | |||||||
| chr2:157772325 | C | T | 5 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+1763G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772325 | |||||||
| chr2:157772435 | T | G | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.643+1653A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772435 | |||||||
| chr2:157772473 | A | G | 1 | a0001c0004t0021g0171 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.643+1615T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772473 | |||||||
| chr2:157772522 | G | A | 1 | a0001c0002t0001g0146 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.643+1566C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772522 | |||||||
| chr2:157772553 | C | T | 146 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(143): Show |
146 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.643+1535G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772553 | |||||||
| chr2:157772576 | G | T | 1 | a0001c0001t0002g0070 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.643+1512C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772576 | |||||||
| chr2:157772645 | A | C | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.643+1443T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157772645 | |||||||
| chr2:157773275 | C | T | 5 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+813G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773275 | |||||||
| chr2:157773276 | A | T | 148 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(145): Show |
148 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.643+812T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773276 | |||||||
| chr2:157773323 | C | CA | 5 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+764dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773323 | |||||||
| chr2:157773353 | G | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.643+735C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773353 | |||||||
| chr2:157773427 | A | G | 5 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+661T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773427 | |||||||
| chr2:157773795 | C | T | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.643+293G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773795 | |||||||
| chr2:157773881 | G | C | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.643+207C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773881 | |||||||
| chr2:157773907 | A | T | 9 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.643+181T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773907 | |||||||
| chr2:157773922 | A | C | 5 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+166T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773922 | |||||||
| chr2:157773954 | T | C | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.643+134A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773954 | |||||||
| chr2:157773966 | C | G | 3 | a0001c0002t0001g0145 a0001c0002t0003g0159 a0001c0002t0005g0002 |
3 | HG01261.hp2 HG01884.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.643+122G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773966 | |||||||
| chr2:157773984 | A | G | 1 | a0001c0001t0002g0072 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.643+104T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157773984 | |||||||
| chr2:157774081 | G | A | 2 | a0001c0003t0003g0144 a0001c0005t0003g0138 |
2 | HG02559.hp1 HG03516.hp2 |
splice_region_variant&intron_variant | LOW | c.643+7C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | 157774081 | |||||||
| chr2:157774237 | C | A | 1 | a0001c0003t0001g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.544-50G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774237 | |||||||
| chr2:157774299 | G | A | 16 | a0001c0003t0001g0023 a0001c0003t0001g0104 a0001c0003t0004g0167 others(13): Show |
16 | HG02109.hp1 HG02257.hp1 HG02895.hp1 others(13): Show |
intron_variant | MODIFIER | c.544-112C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774299 | |||||||
| chr2:157774500 | G | A | 6 | a0001c0003t0001g0019 a0001c0006t0006g0022 a0001c0006t0006g0102 others(3): Show |
6 | HG02109.hp1 HG02258.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.544-313C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774500 | |||||||
| chr2:157774523 | C | A | 4 | a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0004g0164 others(1): Show |
4 | HG00735.hp1 HG02040.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.544-336G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774523 | |||||||
| chr2:157774545 | G | A | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.544-358C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774545 | |||||||
| chr2:157774683 | C | T | 4 | a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0005t0001g0064 others(1): Show |
4 | HG01168.hp1 HG01169.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.544-496G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774683 | |||||||
| chr2:157774730 | C | T | 1 | a0001c0001t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.544-543G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774730 | |||||||
| chr2:157774753 | A | T | 2 | a0001c0004t0008g0110 a0001c0004t0008g0111 |
2 | HG02257.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.544-566T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774753 | |||||||
| chr2:157774860 | T | C | 15 | a0001c0001t0002g0070 a0001c0002t0001g0024 a0001c0002t0001g0025 others(12): Show |
15 | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.544-673A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774860 | |||||||
| chr2:157774891 | TG | T | 66 | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0047 others(63): Show |
66 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.544-705delC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157774891 | |||||||
| chr2:157775079 | T | C | 27 | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 others(24): Show |
27 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(24): Show |
intron_variant | MODIFIER | c.544-892A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157775079 | |||||||
| chr2:157775396 | G | T | 1 | a0001c0004t0009g0083 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.544-1209C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157775396 | |||||||
| chr2:157776025 | G | A | 4 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0045 others(1): Show |
4 | HG02647.hp1 HG03654.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.544-1838C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776025 | |||||||
| chr2:157776046 | G | A | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.544-1859C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776046 | |||||||
| chr2:157776468 | C | CA | 147 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(144): Show |
147 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.543+1662dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776468 | |||||||
| chr2:157776815 | C | G | 1 | a0001c0004t0008g0111 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.543+1316G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776815 | |||||||
| chr2:157776899 | A | C | 145 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(142): Show |
145 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.543+1232T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776899 | |||||||
| chr2:157777293 | G | A | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.543+838C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777293 | |||||||
| chr2:157777369 | T | A | 71 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(68): Show |
71 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.543+762A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777369 | |||||||
| chr2:157777603 | G | C | 1 | a0001c0002t0001g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.543+528C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777603 | |||||||
| chr2:157777723 | A | G | 12 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(9): Show |
12 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.543+408T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777723 | |||||||
| chr2:157777740 | T | C | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.543+391A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777740 | |||||||
| chr2:157777777 | G | A | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.543+354C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777777 | |||||||
| chr2:157777867 | TTTACCCC others(43): Show |
T | 1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.543+214_543+263del others(50): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777867 | |||||||
| chr2:157777923 | C | CTTATTAT others(43): Show |
1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.543+207_543+208ins others(50): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777923 | |||||||
| chr2:157778539 | A | G | 116 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(113): Show |
116 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.332-197T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157778539 | |||||||
| chr2:157778997 | T | C | 3 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0158 |
3 | HG02451.hp2 HG03453.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.332-655A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157778997 | |||||||
| chr2:157779161 | CA | C | 39 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0099 others(36): Show |
39 | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(36): Show |
intron_variant | MODIFIER | c.332-820delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779161 | |||||||
| chr2:157779293 | A | C | 1 | a0001c0001t0002g0092 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.332-951T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779293 | |||||||
| chr2:157779372 | C | T | 136 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(133): Show |
136 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.331+965G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779372 | |||||||
| chr2:157779653 | G | A | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.331+684C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779653 | |||||||
| chr2:157779656 | A | G | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.331+681T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779656 | |||||||
| chr2:157779808 | C | T | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.331+529G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779808 | |||||||
| chr2:157779829 | A | G | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.331+508T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779829 | |||||||
| chr2:157779998 | T | C | 137 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(134): Show |
137 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): Show |
intron_variant | MODIFIER | c.331+339A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779998 | |||||||
| chr2:157780624 | GA | G | 16 | a0001c0001t0012g0012 a0001c0002t0001g0028 a0001c0002t0001g0031 others(13): Show |
16 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.68-25delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780624 | |||||||
| chr2:157780625 | A | G | 118 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(115): Show |
118 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(115): Show |
intron_variant | MODIFIER | c.68-25T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780625 | |||||||
| chr2:157780626 | A | G | 16 | a0001c0001t0012g0012 a0001c0002t0001g0031 a0001c0002t0001g0099 others(13): Show |
16 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.68-26T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780626 | |||||||
| chr2:157780806 | A | G | 1 | a0001c0002t0002g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.68-206T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780806 | |||||||
| chr2:157780835 | CA | C | 3 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0045 |
3 | HG03654.hp1 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.68-236delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780835 | |||||||
| chr2:157780837 | T | C | 25 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0099 others(22): Show |
25 | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.68-237A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780837 | |||||||
| chr2:157780921 | G | A | 12 | a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0011g0009 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.68-321C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780921 | |||||||
| chr2:157780933 | A | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-333T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780933 | |||||||
| chr2:157780972 | G | A | 1 | a0001c0002t0001g0066 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.68-372C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157780972 | |||||||
| chr2:157781248 | C | T | 7 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(4): Show |
7 | HG02145.hp2 HG02622.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.68-648G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781248 | |||||||
| chr2:157781284 | G | T | 20 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(17): Show |
20 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.68-684C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781284 | |||||||
| chr2:157781319 | G | A | 1 | a0001c0002t0001g0066 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.68-719C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781319 | |||||||
| chr2:157781671 | G | C | 1 | a0001c0002t0001g0032 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.68-1071C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781671 | |||||||
| chr2:157781755 | T | C | 83 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(80): Show |
83 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(80): Show |
intron_variant | MODIFIER | c.68-1155A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781755 | |||||||
| chr2:157781929 | A | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-1329T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781929 | |||||||
| chr2:157781963 | C | T | 29 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 others(26): Show |
29 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(26): Show |
intron_variant | MODIFIER | c.68-1363G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781963 | |||||||
| chr2:157781981 | A | G | 1 | a0001c0002t0001g0124 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.68-1381T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781981 | |||||||
| chr2:157782033 | T | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-1433A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782033 | |||||||
| chr2:157782520 | T | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-1920A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782520 | |||||||
| chr2:157782728 | T | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-2128A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782728 | |||||||
| chr2:157782754 | T | C | 10 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(7): Show |
10 | HG01261.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.68-2154A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782754 | |||||||
| chr2:157782839 | C | T | 1 | a0001c0002t0001g0033 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.68-2239G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782839 | |||||||
| chr2:157782936 | A | G | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-2336T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782936 | |||||||
| chr2:157783047 | A | G | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.68-2447T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783047 | |||||||
| chr2:157783066 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.68-2466C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783066 | |||||||
| chr2:157783300 | C | T | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.68-2700G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783300 | |||||||
| chr2:157783309 | T | C | 1 | a0001c0002t0003g0159 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.68-2709A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783309 | |||||||
| chr2:157783347 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.68-2747A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783347 | |||||||
| chr2:157783573 | T | G | 3 | a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0005t0001g0157 |
3 | HG02486.hp2 NA19043.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.68-2973A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783573 | |||||||
| chr2:157783591 | A | G | 7 | a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 others(4): Show |
7 | HG02055.hp1 HG02717.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.68-2991T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783591 | |||||||
| chr2:157783672 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.68-3072C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783672 | |||||||
| chr2:157783787 | T | G | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-3187A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783787 | |||||||
| chr2:157783788 | C | A | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-3188G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783788 | |||||||
| chr2:157783920 | C | A | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-3320G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783920 | |||||||
| chr2:157783924 | C | G | 1 | a0001c0003t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.68-3324G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783924 | |||||||
| chr2:157783948 | C | T | 1 | a0001c0002t0001g0107 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.68-3348G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783948 | |||||||
| chr2:157784367 | G | A | 1 | a0001c0002t0003g0015 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.68-3767C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784367 | |||||||
| chr2:157784452 | T | G | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.68-3852A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784452 | |||||||
| chr2:157784459 | T | G | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.68-3859A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784459 | |||||||
| chr2:157784551 | C | T | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.68-3951G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784551 | |||||||
| chr2:157784788 | G | C | 134 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(131): Show |
134 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
intron_variant | MODIFIER | c.68-4188C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784788 | |||||||
| chr2:157784812 | G | A | 1 | a0001c0001t0002g0076 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.68-4212C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157784812 | |||||||
| chr2:157785115 | A | G | 1 | a0001c0001t0001g0088 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.68-4515T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785115 | |||||||
| chr2:157785357 | T | C | 1 | a0001c0002t0010g0008 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.68-4757A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785357 | |||||||
| chr2:157785477 | G | T | 1 | a0001c0002t0001g0028 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.68-4877C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785477 | |||||||
| chr2:157785524 | G | A | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-4924C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785524 | |||||||
| chr2:157785584 | A | G | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-4984T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785584 | |||||||
| chr2:157785819 | T | C | 1 | a0001c0002t0001g0089 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.68-5219A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785819 | |||||||
| chr2:157785973 | T | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-5373A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157785973 | |||||||
| chr2:157786005 | C | T | 9 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.68-5405G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157786005 | |||||||
| chr2:157786092 | C | T | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.68-5492G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157786092 | |||||||
| chr2:157786190 | C | T | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-5590G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157786190 | |||||||
| chr2:157786525 | C | A | 5 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(2): Show |
5 | HG00735.hp1 HG02922.hp2 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-5925G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157786525 | |||||||
| chr2:157786908 | C | A | 6 | a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 others(3): Show |
6 | HG02717.hp1 HG02976.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.68-6308G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157786908 | |||||||
| chr2:157787084 | C | G | 1 | a0001c0002t0002g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.68-6484G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787084 | |||||||
| chr2:157787133 | T | A | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-6533A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787133 | |||||||
| chr2:157787280 | AC | A | 4 | a0001c0002t0001g0036 a0001c0002t0004g0169 a0001c0002t0004g0170 others(1): Show |
4 | HG02970.hp1 HG03195.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-6681delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787280 | |||||||
| chr2:157787456 | C | A | 2 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.68-6856G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787456 | |||||||
| chr2:157787538 | A | G | 76 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(73): Show |
76 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.68-6938T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787538 | |||||||
| chr2:157787555 | T | C | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.68-6955A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787555 | |||||||
| chr2:157787611 | G | T | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.68-7011C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787611 | |||||||
| chr2:157787691 | C | T | 136 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(133): Show |
136 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.68-7091G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787691 | |||||||
| chr2:157787894 | C | T | 1 | a0001c0001t0002g0105 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.68-7294G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157787894 | |||||||
| chr2:157788153 | C | T | 6 | a0001c0003t0001g0019 a0001c0004t0008g0030 a0001c0006t0006g0102 others(3): Show |
6 | HG02109.hp1 HG02258.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.68-7553G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788153 | |||||||
| chr2:157788216 | C | T | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.68-7616G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788216 | |||||||
| chr2:157788220 | C | G | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.68-7620G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788220 | |||||||
| chr2:157788227 | C | A | 1 | a0001c0005t0003g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.68-7627G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788227 | |||||||
| chr2:157788297 | CA | C | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-7698delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788297 | |||||||
| chr2:157788303 | A | C | 1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.68-7703T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788303 | |||||||
| chr2:157788607 | A | C | 91 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
91 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.68-8007T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788607 | |||||||
| chr2:157788704 | A | G | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.68-8104T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788704 | |||||||
| chr2:157788789 | A | G | 9 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.68-8189T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788789 | |||||||
| chr2:157788809 | AGGGTAAA others(6): Show |
A | 8 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show |
8 | HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.68-8222_68-8210del others(13): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788809 | |||||||
| chr2:157788902 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.68-8302G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788902 | |||||||
| chr2:157789026 | A | G | 13 | a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0088 others(10): Show |
13 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(10): Show |
intron_variant | MODIFIER | c.68-8426T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789026 | |||||||
| chr2:157789088 | G | A | 7 | a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-8488C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789088 | |||||||
| chr2:157789194 | TCCAGGTG | T | 3 | a0001c0002t0003g0015 a0001c0002t0003g0130 a0001c0002t0003g0156 |
3 | HG02970.hp2 NA19043.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.68-8601_68-8595del others(7): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789194 | |||||||
| chr2:157789211 | C | T | 1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.68-8611G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789211 | |||||||
| chr2:157789217 | G | C | 2 | a0001c0002t0001g0032 a0001c0002t0005g0002 |
2 | HG01884.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.68-8617C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789217 | |||||||
| chr2:157789316 | T | C | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.68-8716A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789316 | |||||||
| chr2:157789913 | A | G | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.68-9313T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789913 | |||||||
| chr2:157790184 | G | A | 121 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(118): Show |
121 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(118): Show |
intron_variant | MODIFIER | c.67+9243C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790184 | |||||||
| chr2:157790226 | G | A | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.67+9201C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790226 | |||||||
| chr2:157790235 | G | A | 7 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(4): Show |
7 | HG00735.hp1 HG02922.hp2 HG03516.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+9192C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790235 | |||||||
| chr2:157790274 | G | T | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.67+9153C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790274 | |||||||
| chr2:157790837 | C | T | 11 | a0001c0002t0001g0031 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.67+8590G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790837 | |||||||
| chr2:157790966 | C | T | 5 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(2): Show |
5 | HG00735.hp1 HG02922.hp2 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+8461G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790966 | |||||||
| chr2:157791113 | G | A | 2 | a0001c0005t0001g0157 a0001c0005t0003g0138 |
2 | HG03516.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.67+8314C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157791113 | |||||||
| chr2:157791420 | C | A | 2 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.67+8007G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157791420 | |||||||
| chr2:157791656 | G | A | 1 | a0001c0002t0017g0122 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.67+7771C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157791656 | |||||||
| chr2:157791747 | G | A | 1 | a0001c0004t0008g0030 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.67+7680C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157791747 | |||||||
| chr2:157791916 | T | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.67+7511A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157791916 | |||||||
| chr2:157792162 | A | G | 1 | a0001c0002t0015g0095 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.67+7265T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792162 | |||||||
| chr2:157792242 | T | C | 8 | a0001c0001t0001g0020 a0001c0002t0001g0031 a0001c0003t0001g0019 others(5): Show |
8 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.67+7185A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792242 | |||||||
| chr2:157792280 | G | A | 1 | a0001c0001t0002g0153 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.67+7147C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792280 | |||||||
| chr2:157792284 | C | G | 21 | a0001c0001t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0031 others(18): Show |
21 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.67+7143G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792284 | |||||||
| chr2:157792367 | A | G | 167 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(164): Show |
167 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(164): Show |
intron_variant | MODIFIER | c.67+7060T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792367 | |||||||
| chr2:157792457 | G | T | 1 | a0001c0001t0002g0080 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.67+6970C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792457 | |||||||
| chr2:157792572 | A | G | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.67+6855T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792572 | |||||||
| chr2:157792697 | A | T | 1 | a0001c0002t0001g0033 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.67+6730T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792697 | |||||||
| chr2:157792927 | T | C | 2 | a0001c0005t0001g0064 a0001c0005t0005g0004 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.67+6500A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157792927 | |||||||
| chr2:157793116 | C | G | 2 | a0001c0002t0002g0084 a0001c0002t0002g0085 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.67+6311G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157793116 | |||||||
| chr2:157793277 | T | C | 7 | a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 others(4): Show |
7 | HG02055.hp1 HG02717.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+6150A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157793277 | |||||||
| chr2:157793369 | G | T | 2 | a0001c0001t0001g0020 a0001c0005t0001g0157 |
2 | HG02647.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.67+6058C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157793369 | |||||||
| chr2:157793913 | A | C | 3 | a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0003t0019g0143 |
3 | HG02486.hp2 HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.67+5514T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157793913 | |||||||
| chr2:157794020 | G | T | 34 | a0001c0001t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0032 others(31): Show |
34 | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(31): Show |
intron_variant | MODIFIER | c.67+5407C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157794020 | |||||||
| chr2:157794256 | T | C | 2 | a0001c0002t0001g0059 a0001c0002t0001g0060 |
2 | HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.67+5171A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157794256 | |||||||
| chr2:157794341 | A | G | 1 | a0001c0001t0002g0068 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.67+5086T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157794341 | |||||||
| chr2:157794615 | T | C | 1 | a0001c0003t0001g0023 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.67+4812A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157794615 | |||||||
| chr2:157794885 | C | CA | 13 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(10): Show |
13 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.67+4541dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157794885 | |||||||
| chr2:157795180 | C | T | 1 | a0001c0001t0002g0086 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.67+4247G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795180 | |||||||
| chr2:157795284 | G | T | 170 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(167): Show |
170 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(167): Show |
intron_variant | MODIFIER | c.67+4143C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795284 | |||||||
| chr2:157795377 | A | AAC | 4 | a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0005g0006 others(1): Show |
4 | HG01074.hp1 HG02647.hp2 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+4048_67+4049dup others(2): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | A | AACAC | 5 | a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0149 others(2): Show |
5 | HG01891.hp2 HG02809.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.67+4046_67+4049dup others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AAC | A | 14 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0037 others(11): Show |
14 | HG02145.hp2 HG02976.hp2 HG03098.hp2 others(11): Show |
intron_variant | MODIFIER | c.67+4048_67+4049del others(2): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACAC | A | 35 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0131 others(32): Show |
35 | HG01169.hp2 HG01255.hp1 HG01255.hp2 others(32): Show |
intron_variant | MODIFIER | c.67+4046_67+4049del others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACAC | A | 19 | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 others(16): Show |
19 | HG00099.hp2 HG01243.hp2 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.67+4044_67+4049del others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACACA others(1): Show |
A | 54 | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0079 others(51): Show |
54 | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.67+4042_67+4049del others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACACA others(3): Show |
A | 4 | a0001c0001t0001g0115 a0001c0002t0001g0029 a0001c0002t0001g0125 others(1): Show |
4 | HG02486.hp1 HG02486.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+4040_67+4049del others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACACA others(5): Show |
A | 17 | a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0002g0058 others(14): Show |
17 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(14): Show |
intron_variant | MODIFIER | c.67+4038_67+4049del others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACACA others(7): Show |
A | 1 | a0001c0003t0003g0144 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.67+4036_67+4049del others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795377 | AACACACA others(13): Show |
A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.67+4030_67+4049del others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795377 | |||||||
| chr2:157795417 | CACACACA others(4): Show |
C | 1 | a0001c0001t0001g0108 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+3999_67+4009del others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795417 | |||||||
| chr2:157795419 | CACACACA others(2): Show |
C | 2 | a0001c0001t0002g0081 a0001c0001t0002g0118 |
2 | HG02165.hp2 NA18980.hp1 |
intron_variant | MODIFIER | c.67+3999_67+4007del others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795419 | |||||||
| chr2:157795419 | CACACACA others(3): Show |
C | 1 | a0001c0001t0001g0116 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.67+3998_67+4007del others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795419 | |||||||
| chr2:157795546 | A | G | 1 | a0001c0002t0005g0002 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.67+3881T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795546 | |||||||
| chr2:157795768 | A | C | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+3659T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795768 | |||||||
| chr2:157795796 | G | A | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.67+3631C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157795796 | |||||||
| chr2:157796221 | C | CA | 79 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(76): Show |
79 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.67+3205dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157796221 | |||||||
| chr2:157796459 | T | C | 21 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(18): Show |
21 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.67+2968A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157796459 | |||||||
| chr2:157796601 | T | C | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.67+2826A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157796601 | |||||||
| chr2:157797049 | G | A | 1 | a0001c0001t0002g0117 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.67+2378C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157797049 | |||||||
| chr2:157797465 | T | C | 3 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 |
3 | HG00735.hp1 NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.67+1962A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157797465 | |||||||
| chr2:157797604 | A | G | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.67+1823T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157797604 | |||||||
| chr2:157797779 | A | C | 134 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(131): Show |
134 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(131): Show |
intron_variant | MODIFIER | c.67+1648T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157797779 | |||||||
| chr2:157797854 | G | A | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.67+1573C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157797854 | |||||||
| chr2:157798025 | G | A | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.67+1402C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798025 | |||||||
| chr2:157798206 | C | CA | 21 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(18): Show |
21 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.67+1220dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798206 | |||||||
| chr2:157798411 | G | A | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+1016C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798411 | |||||||
| chr2:157798478 | C | T | 1 | a0001c0001t0002g0117 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.67+949G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798478 | |||||||
| chr2:157798634 | C | A | 3 | a0001c0002t0001g0124 a0001c0002t0002g0132 a0001c0002t0004g0172 |
3 | HG02155.hp2 NA18965.hp2 NA18978.hp2 |
intron_variant | MODIFIER | c.67+793G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798634 | |||||||
| chr2:157798690 | A | G | 139 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.67+737T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798690 | |||||||
| chr2:157798934 | T | G | 2 | a0001c0002t0001g0032 a0001c0002t0005g0002 |
2 | HG01884.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.67+493A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798934 | |||||||
| chr2:157798940 | G | A | 40 | a0001c0001t0002g0078 a0001c0002t0001g0031 a0001c0002t0001g0032 others(37): Show |
40 | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(37): Show |
intron_variant | MODIFIER | c.67+487C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798940 | |||||||
| chr2:157798958 | G | A | 2 | a0001c0001t0002g0128 a0001c0001t0002g0151 |
2 | HG00558.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.67+469C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157798958 | |||||||
| chr2:157799017 | C | G | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+410G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157799017 | |||||||
| chr2:157799235 | A | T | 4 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0045 others(1): Show |
4 | HG02647.hp1 HG03654.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+192T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157799235 | |||||||
| chr2:157799371 | C | CA | 30 | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0131 others(27): Show |
30 | HG00735.hp1 HG02055.hp1 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.67+55dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157799371 | |||||||
| chr2:157799371 | C | CAA | 108 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(105): Show |
108 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(105): Show |
intron_variant | MODIFIER | c.67+54_67+55dupTT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157799371 | |||||||
| chr2:157800488 | TA | T | 115 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(112): Show |
115 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.-7-989delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157800488 | |||||||
| chr2:157800912 | A | C | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-7-1412T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157800912 | |||||||
| chr2:157800921 | T | C | 18 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(15): Show |
18 | HG00735.hp1 HG02055.hp1 HG02486.hp1 others(15): Show |
intron_variant | MODIFIER | c.-7-1421A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157800921 | |||||||
| chr2:157801389 | C | T | 1 | a0001c0005t0003g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-7-1889G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157801389 | |||||||
| chr2:157801632 | G | C | 8 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show |
8 | HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-7-2132C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157801632 | |||||||
| chr2:157801636 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-7-2136A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157801636 | |||||||
| chr2:157801638 | C | G | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-7-2138G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157801638 | |||||||
| chr2:157802108 | G | A | 1 | a0001c0001t0002g0043 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-7-2608C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802108 | |||||||
| chr2:157802309 | G | A | 1 | a0001c0001t0002g0068 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-7-2809C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802309 | |||||||
| chr2:157802315 | G | A | 28 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0003g0015 others(25): Show |
28 | HG01261.hp2 HG01884.hp2 HG02109.hp1 others(25): Show |
intron_variant | MODIFIER | c.-7-2815C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802315 | |||||||
| chr2:157802329 | A | T | 9 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.-7-2829T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802329 | |||||||
| chr2:157802462 | C | T | 3 | a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0139 |
3 | HG02109.hp2 HG02451.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-7-2962G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802462 | |||||||
| chr2:157802841 | A | G | 1 | a0001c0002t0001g0107 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-7-3341T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157802841 | |||||||
| chr2:157803158 | A | G | 21 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(18): Show |
21 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.-7-3658T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803158 | |||||||
| chr2:157803266 | C | A | 1 | a0001c0003t0001g0023 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-7-3766G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803266 | |||||||
| chr2:157803539 | A | G | 1 | a0001c0001t0002g0078 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-7-4039T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803539 | |||||||
| chr2:157803604 | T | A | 1 | a0001c0003t0005g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-7-4104A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803604 | |||||||
| chr2:157803788 | T | C | 5 | a0001c0001t0001g0114 a0001c0001t0002g0119 a0001c0005t0001g0073 others(2): Show |
5 | HG02074.hp2 HG02135.hp2 NA18946.hp1 others(2): Show |
intron_variant | MODIFIER | c.-7-4288A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803788 | |||||||
| chr2:157803909 | A | AT | 27 | a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0037 others(24): Show |
27 | HG01261.hp2 HG02055.hp1 HG02145.hp1 others(24): Show |
intron_variant | MODIFIER | c.-7-4410dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803909 | |||||||
| chr2:157803909 | AT | A | 12 | a0001c0001t0001g0057 a0001c0001t0001g0114 a0001c0001t0002g0068 others(9): Show |
12 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(9): Show |
intron_variant | MODIFIER | c.-7-4410delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157803909 | |||||||
| chr2:157804553 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-7-5053A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157804553 | |||||||
| chr2:157804575 | A | G | 2 | a0001c0002t0002g0061 a0001c0002t0002g0077 |
2 | NA18963.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.-7-5075T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157804575 | |||||||
| chr2:157804696 | C | A | 5 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(2): Show |
5 | HG00735.hp1 HG02922.hp2 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.-7-5196G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157804696 | |||||||
| chr2:157804732 | T | C | 2 | a0001c0001t0002g0053 a0001c0001t0002g0069 |
2 | NA18942.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.-7-5232A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157804732 | |||||||
| chr2:157804739 | T | C | 1 | a0001c0002t0001g0031 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-7-5239A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157804739 | |||||||
| chr2:157805277 | C | T | 28 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0003g0015 others(25): Show |
28 | HG01261.hp2 HG01884.hp2 HG02109.hp1 others(25): Show |
intron_variant | MODIFIER | c.-7-5777G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805277 | |||||||
| chr2:157805380 | T | C | 5 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(2): Show |
5 | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.-7-5880A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805380 | |||||||
| chr2:157805616 | T | C | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-7-6116A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805616 | |||||||
| chr2:157805801 | G | T | 2 | a0001c0002t0001g0032 a0001c0002t0005g0002 |
2 | HG01884.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-7-6301C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805801 | |||||||
| chr2:157805810 | TTTCTTTT others(3): Show |
T | 1 | a0001c0002t0002g0061 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.-7-6320_-7-6311del others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805810 | |||||||
| chr2:157805813 | CTTTTTTC others(3): Show |
C | 74 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(71): Show |
74 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.-7-6323_-7-6314del others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805813 | |||||||
| chr2:157805813 | CTTTTTTC others(4): Show |
C | 1 | a0001c0001t0010g0003 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-7-6324_-7-6314del others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805813 | |||||||
| chr2:157805820 | C | CT | 31 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(28): Show |
31 | HG00735.hp1 HG01261.hp2 HG01891.hp2 others(28): Show |
intron_variant | MODIFIER | c.-7-6321dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805820 | |||||||
| chr2:157805824 | T | C | 1 | a0001c0002t0002g0061 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.-7-6324A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157805824 | |||||||
| chr2:157806124 | C | T | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-7-6624G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806124 | |||||||
| chr2:157806213 | T | C | 1 | a0001c0004t0021g0171 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-7-6713A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806213 | |||||||
| chr2:157806229 | C | T | 3 | a0001c0002t0003g0015 a0001c0002t0003g0130 a0001c0002t0003g0156 |
3 | HG02970.hp2 NA19043.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-7-6729G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806229 | |||||||
| chr2:157806289 | C | T | 1 | a0001c0001t0002g0076 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-7-6789G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806289 | |||||||
| chr2:157806293 | C | G | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7-6793G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806293 | |||||||
| chr2:157806297 | C | G | 1 | a0001c0002t0005g0006 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-7-6797G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806297 | |||||||
| chr2:157806413 | C | T | 1 | a0001c0001t0007g0112 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-7-6913G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806413 | |||||||
| chr2:157806443 | C | T | 1 | a0001c0003t0004g0167 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-7-6943G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806443 | |||||||
| chr2:157806765 | C | T | 2 | a0001c0001t0002g0013 a0001c0001t0010g0003 |
2 | HG01168.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.-7-7265G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157806765 | |||||||
| chr2:157807128 | G | A | 12 | a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0034 others(9): Show |
12 | HG02055.hp1 HG02486.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.-7-7628C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807128 | |||||||
| chr2:157807341 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-7-7841C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807341 | |||||||
| chr2:157807372 | T | C | 1 | a0001c0001t0002g0078 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-7-7872A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807372 | |||||||
| chr2:157807563 | A | AT | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-7-8064dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807563 | |||||||
| chr2:157807576 | T | TA | 2 | a0001c0001t0001g0047 a0001c0001t0001g0106 |
2 | NA18981.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.-7-8077dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807576 | |||||||
| chr2:157807638 | T | C | 3 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 |
3 | HG00735.hp1 NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-7-8138A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807638 | |||||||
| chr2:157807854 | T | TG | 31 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(28): Show |
31 | HG01074.hp1 HG01261.hp2 HG02155.hp2 others(28): Show |
intron_variant | MODIFIER | c.-7-8355dupC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807854 | |||||||
| chr2:157807854 | T | TGG | 22 | a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0002g0043 others(19): Show |
22 | HG00735.hp1 HG02055.hp1 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.-7-8356_-7-8355dup others(2): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807854 | |||||||
| chr2:157807854 | T | TGGG | 42 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(39): Show |
42 | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.-7-8357_-7-8355dup others(3): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807854 | |||||||
| chr2:157807854 | T | TGGGG | 34 | a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0106 others(31): Show |
34 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(31): Show |
intron_variant | MODIFIER | c.-7-8358_-7-8355dup others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807854 | |||||||
| chr2:157807866 | T | G | 1 | a0001c0002t0001g0099 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-7-8366A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807866 | |||||||
| chr2:157807999 | C | T | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-7-8499G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157807999 | |||||||
| chr2:157808684 | A | G | 78 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(75): Show |
78 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.-7-9184T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808684 | |||||||
| chr2:157808879 | T | A | 1 | a0001c0001t0001g0093 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-7-9379A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808879 | |||||||
| chr2:157808879 | T | TA | 76 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(73): Show |
76 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.-7-9380dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808879 | |||||||
| chr2:157808879 | TA | T | 7 | a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0002t0002g0044 others(4): Show |
7 | HG02257.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7-9380delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808879 | |||||||
| chr2:157808892 | A | C | 8 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show |
8 | HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-7-9392T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808892 | |||||||
| chr2:157809283 | G | A | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-8+9102C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157809283 | |||||||
| chr2:157809459 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-8+8926A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157809459 | |||||||
| chr2:157810012 | G | T | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8+8373C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810012 | |||||||
| chr2:157810019 | T | A | 10 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-8+8366A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810019 | |||||||
| chr2:157810059 | C | G | 40 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(37): Show |
40 | HG01261.hp2 HG01884.hp2 HG02055.hp1 others(37): Show |
intron_variant | MODIFIER | c.-8+8326G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810059 | |||||||
| chr2:157810264 | C | T | 1 | a0001c0001t0012g0012 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-8+8121G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810264 | |||||||
| chr2:157810291 | A | G | 1 | a0001c0001t0002g0069 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-8+8094T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810291 | |||||||
| chr2:157810421 | C | A | 1 | a0001c0001t0002g0058 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-8+7964G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810421 | |||||||
| chr2:157810623 | C | A | 7 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8+7762G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810623 | |||||||
| chr2:157810659 | T | C | 1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.-8+7726A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810659 | |||||||
| chr2:157810705 | T | C | 86 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(83): Show |
86 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(83): Show |
intron_variant | MODIFIER | c.-8+7680A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810705 | |||||||
| chr2:157810728 | T | C | 5 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(2): Show |
5 | HG02145.hp2 HG02622.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8+7657A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157810728 | |||||||
| chr2:157811093 | T | C | 1 | a0001c0003t0003g0144 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-8+7292A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811093 | |||||||
| chr2:157811160 | CT | C | 80 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(77): Show |
80 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.-8+7224delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811160 | |||||||
| chr2:157811803 | CAACAAA | C | 22 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(19): Show |
22 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.-8+6576_-8+6581del others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811803 | |||||||
| chr2:157811812 | G | A | 22 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(19): Show |
22 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.-8+6573C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811812 | |||||||
| chr2:157811933 | A | G | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.-8+6452T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811933 | |||||||
| chr2:157811942 | T | C | 51 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(48): Show |
51 | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(48): Show |
intron_variant | MODIFIER | c.-8+6443A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811942 | |||||||
| chr2:157812112 | G | T | 83 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(80): Show |
83 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(80): Show |
intron_variant | MODIFIER | c.-8+6273C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157812112 | |||||||
| chr2:157812282 | G | A | 1 | a0001c0001t0001g0106 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.-8+6103C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157812282 | |||||||
| chr2:157812414 | C | T | 2 | a0001c0006t0006g0102 a0001c0006t0006g0103 |
2 | NA19240.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-8+5971G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157812414 | |||||||
| chr2:157812905 | G | C | 82 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(79): Show |
82 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.-8+5480C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157812905 | |||||||
| chr2:157812916 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.-8+5469A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157812916 | |||||||
| chr2:157813062 | A | T | 1 | a0001c0002t0001g0142 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-8+5323T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813062 | |||||||
| chr2:157813191 | GA | G | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-8+5193delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813191 | |||||||
| chr2:157813271 | C | T | 7 | a0001c0001t0002g0129 a0001c0002t0001g0066 a0001c0002t0001g0124 others(4): Show |
7 | HG00438.hp1 HG01074.hp1 HG02155.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8+5114G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813271 | |||||||
| chr2:157813272 | G | A | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-8+5113C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813272 | |||||||
| chr2:157813604 | A | G | 1 | a0001c0001t0002g0092 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-8+4781T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813604 | |||||||
| chr2:157813922 | C | A | 1 | a0001c0002t0011g0010 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-8+4463G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813922 | |||||||
| chr2:157813935 | A | G | 24 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0029 others(21): Show |
24 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.-8+4450T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157813935 | |||||||
| chr2:157814000 | A | G | 11 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(8): Show |
11 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.-8+4385T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814000 | |||||||
| chr2:157814028 | G | A | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-8+4357C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814028 | |||||||
| chr2:157814056 | A | G | 4 | a0001c0002t0001g0024 a0001c0002t0001g0107 a0001c0002t0001g0125 others(1): Show |
4 | HG02486.hp2 HG02622.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-8+4329T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814056 | |||||||
| chr2:157814193 | T | C | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-8+4192A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814193 | |||||||
| chr2:157814417 | C | T | 5 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0107 others(2): Show |
5 | HG02486.hp2 HG02622.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8+3968G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814417 | |||||||
| chr2:157814606 | T | C | 1 | a0001c0002t0001g0098 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-8+3779A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814606 | |||||||
| chr2:157814614 | G | A | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-8+3771C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814614 | |||||||
| chr2:157814697 | T | C | 3 | a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0116 |
3 | HG02165.hp1 NA18956.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.-8+3688A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814697 | |||||||
| chr2:157814786 | T | C | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.-8+3599A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814786 | |||||||
| chr2:157814806 | C | T | 10 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(7): Show |
10 | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-8+3579G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157814806 | |||||||
| chr2:157815188 | C | T | 52 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 others(49): Show |
52 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(49): Show |
intron_variant | MODIFIER | c.-8+3197G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157815188 | |||||||
| chr2:157815195 | T | C | 2 | a0001c0002t0001g0037 a0001c0002t0001g0038 |
2 | HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-8+3190A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157815195 | |||||||
| chr2:157815213 | ATATATGC others(8): Show |
A | 2 | a0001c0002t0007g0063 a0001c0003t0019g0143 |
2 | HG01891.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-8+3157_-8+3171del others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157815213 | |||||||
| chr2:157816171 | C | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-8+2214G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816171 | |||||||
| chr2:157816271 | T | C | 5 | a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0018g0148 others(2): Show |
5 | HG02922.hp2 HG02970.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8+2114A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816271 | |||||||
| chr2:157816385 | A | G | 6 | a0001c0001t0001g0057 a0001c0001t0002g0068 a0001c0001t0002g0097 others(3): Show |
6 | HG00408.hp2 HG00438.hp2 NA18960.hp1 others(3): Show |
intron_variant | MODIFIER | c.-8+2000T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816385 | |||||||
| chr2:157816437 | C | CA | 5 | a0001c0002t0001g0036 a0001c0002t0001g0142 a0001c0003t0001g0071 others(2): Show |
5 | HG01243.hp2 HG02055.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8+1947dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816437 | |||||||
| chr2:157816437 | CA | C | 54 | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0029 others(51): Show |
54 | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(51): Show |
intron_variant | MODIFIER | c.-8+1947delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816437 | |||||||
| chr2:157816541 | G | A | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-8+1844C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816541 | |||||||
| chr2:157816559 | T | G | 1 | a0001c0005t0004g0174 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.-8+1826A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816559 | |||||||
| chr2:157816603 | GTAA | G | 43 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0098 others(40): Show |
43 | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(40): Show |
intron_variant | MODIFIER | c.-8+1779_-8+1781del others(3): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816603 | |||||||
| chr2:157816707 | C | T | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-8+1678G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816707 | |||||||
| chr2:157816951 | G | C | 1 | a0001c0001t0004g0164 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-8+1434C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157816951 | |||||||
| chr2:157817673 | A | T | 22 | a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 others(19): Show |
22 | HG00099.hp2 HG01243.hp2 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.-8+712T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157817673 | |||||||
| chr2:157817816 | T | C | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-8+569A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157817816 | |||||||
| chr2:157817861 | C | T | 21 | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(18): Show |
21 | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.-8+524G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157817861 | |||||||
| chr2:157817895 | A | G | 157 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(154): Show |
157 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(154): Show |
intron_variant | MODIFIER | c.-8+490T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157817895 | |||||||
| chr2:157818001 | C | CA | 77 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(74): Show |
77 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.-8+383dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157818001 | |||||||
| chr2:157818061 | G | C | 19 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.-8+324C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157818061 | |||||||
| chr2:157818178 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-8+207C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157818178 | |||||||
| chr2:157818663 | G | C | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-182-104C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818663 | |||||||
| chr2:157818751 | G | A | 132 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show |
132 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.-182-192C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818751 | |||||||
| chr2:157818796 | C | T | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-182-237G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818796 | |||||||
| chr2:157818800 | C | T | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-182-241G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818800 | |||||||
| chr2:157818801 | G | C | 1 | a0001c0002t0003g0096 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-182-242C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818801 | |||||||
| chr2:157818844 | C | T | 3 | a0001c0001t0001g0020 a0001c0002t0001g0125 a0001c0002t0001g0145 |
3 | HG02486.hp2 HG02647.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-182-285G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818844 | |||||||
| chr2:157818905 | C | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-346G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818905 | |||||||
| chr2:157818939 | G | A | 18 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(15): Show |
18 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.-182-380C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818939 | |||||||
| chr2:157818941 | A | G | 10 | a0001c0001t0002g0154 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.-182-382T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818941 | |||||||
| chr2:157818951 | G | A | 1 | a0001c0002t0001g0032 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-182-392C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818951 | |||||||
| chr2:157818974 | A | G | 1 | a0001c0001t0001g0042 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.-182-415T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157818974 | |||||||
| chr2:157819056 | T | C | 140 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.-182-497A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819056 | |||||||
| chr2:157819077 | C | CA | 10 | a0001c0001t0002g0129 a0001c0001t0007g0112 a0001c0002t0001g0024 others(7): Show |
10 | HG00438.hp1 HG02622.hp2 HG02965.hp2 others(7): Show |
intron_variant | MODIFIER | c.-182-519dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819077 | |||||||
| chr2:157819077 | CA | C | 34 | a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0056 others(31): Show |
34 | HG00558.hp2 HG00735.hp1 HG01255.hp2 others(31): Show |
intron_variant | MODIFIER | c.-182-519delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819077 | |||||||
| chr2:157819077 | CAA | C | 85 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(82): Show |
85 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(82): Show |
intron_variant | MODIFIER | c.-182-520_-182-519d others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819077 | |||||||
| chr2:157819099 | A | C | 1 | a0001c0002t0010g0008 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-182-540T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819099 | |||||||
| chr2:157819190 | C | T | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-631G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819190 | |||||||
| chr2:157819220 | T | C | 5 | a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0018g0148 others(2): Show |
5 | HG02922.hp2 HG02970.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-661A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819220 | |||||||
| chr2:157819334 | G | A | 1 | a0001c0001t0002g0062 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-182-775C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819334 | |||||||
| chr2:157819373 | G | A | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-814C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819373 | |||||||
| chr2:157819496 | CA | C | 6 | a0001c0001t0012g0012 a0001c0002t0001g0025 a0001c0002t0001g0037 others(3): Show |
6 | HG02074.hp2 HG02976.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-182-938delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819496 | |||||||
| chr2:157819496 | CAA | C | 131 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(128): Show |
131 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.-182-939_-182-938d others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819496 | |||||||
| chr2:157819557 | G | A | 10 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(7): Show |
10 | HG02055.hp1 HG02809.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.-182-998C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819557 | |||||||
| chr2:157819743 | G | A | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-182-1184C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819743 | |||||||
| chr2:157819747 | AG | A | 54 | a0001c0001t0002g0154 a0001c0002t0001g0029 a0001c0002t0001g0031 others(51): Show |
54 | HG01261.hp2 HG01891.hp2 HG02055.hp1 others(51): Show |
intron_variant | MODIFIER | c.-182-1189delC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819747 | |||||||
| chr2:157819937 | T | C | 25 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0033 others(22): Show |
25 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(22): Show |
intron_variant | MODIFIER | c.-182-1378A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819937 | |||||||
| chr2:157819972 | C | T | 1 | a0001c0005t0003g0138 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-182-1413G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157819972 | |||||||
| chr2:157820438 | C | G | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-182-1879G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820438 | |||||||
| chr2:157820443 | G | C | 2 | a0001c0001t0002g0046 a0001c0001t0002g0065 |
2 | NA18950.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-182-1884C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820443 | |||||||
| chr2:157820487 | C | G | 1 | a0001c0005t0001g0073 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.-182-1928G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820487 | |||||||
| chr2:157820553 | T | A | 1 | a0001c0002t0002g0044 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.-182-1994A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820553 | |||||||
| chr2:157820574 | CT | C | 6 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0002g0154 others(3): Show |
6 | HG02486.hp1 HG03704.hp1 NA19075.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-2016delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820574 | |||||||
| chr2:157820876 | G | A | 6 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.-182-2317C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820876 | |||||||
| chr2:157820951 | T | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-2392A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820951 | |||||||
| chr2:157820987 | T | C | 74 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(71): Show |
74 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.-182-2428A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157820987 | |||||||
| chr2:157821015 | A | C | 10 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(7): Show |
10 | HG02055.hp1 HG02809.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.-182-2456T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157821015 | |||||||
| chr2:157821067 | C | G | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-2508G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157821067 | |||||||
| chr2:157821317 | A | G | 10 | a0001c0001t0002g0154 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.-182-2758T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157821317 | |||||||
| chr2:157821388 | G | C | 1 | a0001c0001t0002g0065 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.-182-2829C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157821388 | |||||||
| chr2:157822427 | C | G | 138 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(135): Show |
138 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(135): Show |
intron_variant | MODIFIER | c.-182-3868G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157822427 | |||||||
| chr2:157822719 | G | C | 6 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(3): Show |
6 | HG02258.hp1 HG02559.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-4160C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157822719 | |||||||
| chr2:157822848 | A | G | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-182-4289T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157822848 | |||||||
| chr2:157823003 | G | A | 13 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0002t0001g0033 others(10): Show |
13 | HG02055.hp1 HG02109.hp1 HG02809.hp2 others(10): Show |
intron_variant | MODIFIER | c.-182-4444C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823003 | |||||||
| chr2:157823097 | C | T | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-4538G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823097 | |||||||
| chr2:157823603 | G | T | 2 | a0001c0002t0001g0037 a0001c0002t0001g0038 |
2 | HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-182-5044C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823603 | |||||||
| chr2:157823695 | AAT | A | 11 | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show |
11 | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show |
intron_variant | MODIFIER | c.-182-5138_-182-513 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823695 | |||||||
| chr2:157823877 | A | T | 1 | a0001c0001t0002g0062 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-182-5318T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823877 | |||||||
| chr2:157823985 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-5426A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157823985 | |||||||
| chr2:157824019 | A | G | 6 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(3): Show |
6 | HG01261.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-182-5460T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824019 | |||||||
| chr2:157824511 | A | G | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-5952T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824511 | |||||||
| chr2:157824569 | T | C | 11 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(8): Show |
11 | HG02055.hp1 HG02809.hp2 HG02965.hp1 others(8): Show |
intron_variant | MODIFIER | c.-182-6010A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824569 | |||||||
| chr2:157824570 | C | A | 11 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(8): Show |
11 | HG02055.hp1 HG02809.hp2 HG02965.hp1 others(8): Show |
intron_variant | MODIFIER | c.-182-6011G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824570 | |||||||
| chr2:157824596 | A | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-6037T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824596 | |||||||
| chr2:157824698 | C | A | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-182-6139G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824698 | |||||||
| chr2:157824776 | C | G | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-6217G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824776 | |||||||
| chr2:157824780 | G | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-6221C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824780 | |||||||
| chr2:157824899 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-6340C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157824899 | |||||||
| chr2:157825129 | A | T | 12 | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(9): Show |
12 | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(9): Show |
intron_variant | MODIFIER | c.-182-6570T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825129 | |||||||
| chr2:157825429 | G | A | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-182-6870C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825429 | |||||||
| chr2:157825434 | C | T | 12 | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(9): Show |
12 | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(9): Show |
intron_variant | MODIFIER | c.-182-6875G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825434 | |||||||
| chr2:157825435 | G | A | 12 | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(9): Show |
12 | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(9): Show |
intron_variant | MODIFIER | c.-182-6876C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825435 | |||||||
| chr2:157825601 | G | C | 2 | a0001c0002t0001g0125 a0001c0002t0001g0145 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-182-7042C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825601 | |||||||
| chr2:157825862 | C | T | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-182-7303G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825862 | |||||||
| chr2:157825958 | G | A | 3 | a0001c0001t0001g0020 a0001c0002t0001g0125 a0001c0002t0001g0145 |
3 | HG02486.hp2 HG02647.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-182-7399C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157825958 | |||||||
| chr2:157826190 | T | C | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-182-7631A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826190 | |||||||
| chr2:157826342 | T | C | 1 | a0001c0002t0005g0002 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-182-7783A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826342 | |||||||
| chr2:157826632 | C | A | 1 | a0001c0006t0006g0160 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-182-8073G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826632 | |||||||
| chr2:157826648 | T | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-8089A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826648 | |||||||
| chr2:157826651 | CAAAAA | C | 6 | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(3): Show |
6 | HG02258.hp1 HG02559.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-8097_-182-809 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826651 | |||||||
| chr2:157826697 | G | GAAGGA | 3 | a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0004g0173 |
3 | HG01891.hp2 HG02717.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-182-8143_-182-813 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | G | GAAGGAAA others(3): Show |
1 | a0001c0002t0001g0145 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-182-8148_-182-813 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | G | GAAGGAAA others(8): Show |
1 | a0001c0002t0001g0100 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-182-8153_-182-813 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGA | G | 7 | a0001c0001t0002g0068 a0001c0001t0004g0164 a0001c0002t0001g0032 others(4): Show |
7 | HG00408.hp2 HG00735.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.-182-8143_-182-813 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(3): Show |
G | 7 | a0001c0001t0001g0114 a0001c0001t0002g0046 a0001c0001t0002g0069 others(4): Show |
7 | HG01884.hp2 HG02257.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.-182-8148_-182-813 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(8): Show |
G | 29 | a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0109 others(26): Show |
29 | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.-182-8153_-182-813 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(13): Show |
G | 32 | a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0054 others(29): Show |
32 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(29): Show |
intron_variant | MODIFIER | c.-182-8158_-182-813 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(18): Show |
G | 26 | a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0079 others(23): Show |
26 | HG01074.hp1 HG01243.hp2 HG01261.hp1 others(23): Show |
intron_variant | MODIFIER | c.-182-8163_-182-813 others(29): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(23): Show |
G | 17 | a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0002g0050 others(14): Show |
17 | HG01169.hp1 HG01243.hp1 HG02040.hp1 others(14): Show |
intron_variant | MODIFIER | c.-182-8168_-182-813 others(34): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(28): Show |
G | 8 | a0001c0001t0001g0020 a0001c0001t0002g0129 a0001c0001t0002g0154 others(5): Show |
8 | HG00438.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-182-8173_-182-813 others(39): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(33): Show |
G | 6 | a0001c0001t0002g0076 a0001c0002t0001g0124 a0001c0002t0002g0084 others(3): Show |
6 | HG03491.hp1 HG03492.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-8178_-182-813 others(44): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(38): Show |
G | 8 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0004g0169 others(5): Show |
8 | HG02622.hp1 HG02922.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-8183_-182-813 others(49): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826697 | GAAGGAAA others(53): Show |
G | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-182-8198_-182-813 others(64): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826697 | |||||||
| chr2:157826743 | AAGGAAAG others(31): Show |
A | 1 | a0001c0002t0001g0029 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-182-8222_-182-818 others(42): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826743 | |||||||
| chr2:157826747 | AAAGGAAA others(32): Show |
A | 5 | a0001c0002t0003g0094 a0001c0002t0003g0130 a0001c0002t0003g0158 others(2): Show |
5 | HG02451.hp2 HG02647.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-182-8227_-182-818 others(43): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826747 | |||||||
| chr2:157826752 | AAAGGAAA others(27): Show |
A | 11 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0096 others(8): Show |
11 | HG01261.hp2 HG02145.hp1 HG02897.hp1 others(8): Show |
intron_variant | MODIFIER | c.-182-8227_-182-819 others(38): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826752 | |||||||
| chr2:157826757 | AAAGGAAA others(22): Show |
A | 3 | a0001c0002t0003g0155 a0001c0003t0003g0144 a0001c0004t0009g0161 |
3 | HG02257.hp2 HG02559.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-182-8227_-182-819 others(33): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826757 | |||||||
| chr2:157826784 | A | AGGAAAG | 11 | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show |
11 | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show |
intron_variant | MODIFIER | c.-182-8231_-182-822 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826784 | |||||||
| chr2:157826784 | A | G | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-8225T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826784 | |||||||
| chr2:157826796 | GGGAAAA | G | 19 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.-182-8243_-182-823 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826796 | |||||||
| chr2:157826802 | A | G | 1 | a0001c0002t0018g0148 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-182-8243T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826802 | |||||||
| chr2:157826821 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-8262C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826821 | |||||||
| chr2:157826824 | G | A | 1 | a0001c0002t0018g0148 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-182-8265C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826824 | |||||||
| chr2:157826864 | G | GGGAAA | 46 | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0131 others(43): Show |
46 | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(43): Show |
intron_variant | MODIFIER | c.-182-8310_-182-830 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826864 | |||||||
| chr2:157826864 | G | GGGAAAGG others(3): Show |
6 | a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0023 others(3): Show |
6 | HG02055.hp2 HG02258.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-8315_-182-830 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826864 | |||||||
| chr2:157826864 | G | GGGAAAGG others(13): Show |
1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-8325_-182-830 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826864 | |||||||
| chr2:157826864 | GGGAAA | G | 3 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0005g0006 |
3 | HG02698.hp1 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.-182-8310_-182-830 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826864 | |||||||
| chr2:157826908 | AAAGG | A | 3 | a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0007g0075 |
3 | HG01884.hp1 NA20752.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-182-8353_-182-835 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157826908 | |||||||
| chr2:157827194 | A | T | 1 | a0001c0001t0001g0082 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-182-8635T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827194 | |||||||
| chr2:157827247 | T | C | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-8688A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827247 | |||||||
| chr2:157827482 | T | C | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-182-8923A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827482 | |||||||
| chr2:157827706 | T | C | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-182-9147A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827706 | |||||||
| chr2:157827867 | C | G | 1 | a0001c0002t0005g0002 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-182-9308G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827867 | |||||||
| chr2:157827939 | T | A | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-182-9380A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827939 | |||||||
| chr2:157827978 | T | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-9419A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157827978 | |||||||
| chr2:157828045 | A | C | 19 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.-182-9486T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828045 | |||||||
| chr2:157828088 | C | T | 3 | a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0003g0138 |
3 | HG03041.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-182-9529G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828088 | |||||||
| chr2:157828319 | G | C | 5 | a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0018g0148 others(2): Show |
5 | HG02922.hp2 HG02970.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-9760C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828319 | |||||||
| chr2:157828394 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-9835C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828394 | |||||||
| chr2:157828449 | C | CA | 21 | a0001c0001t0002g0154 a0001c0001t0012g0011 a0001c0002t0001g0029 others(18): Show |
21 | HG01169.hp2 HG02109.hp1 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.-182-9891dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828449 | |||||||
| chr2:157828449 | C | CAA | 97 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(94): Show |
97 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(94): Show |
intron_variant | MODIFIER | c.-182-9892_-182-989 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828449 | |||||||
| chr2:157828449 | C | CAAA | 5 | a0001c0001t0001g0047 a0001c0001t0002g0076 a0001c0002t0003g0017 others(2): Show |
5 | HG02145.hp1 HG03516.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-9893_-182-989 others(7): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828449 | |||||||
| chr2:157828598 | A | T | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-10039T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828598 | |||||||
| chr2:157828603 | T | C | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-10044A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828603 | |||||||
| chr2:157828661 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-10102C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828661 | |||||||
| chr2:157828725 | C | T | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-182-10166G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828725 | |||||||
| chr2:157828736 | T | A | 1 | a0001c0001t0012g0011 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.-182-10177A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828736 | |||||||
| chr2:157828758 | G | GT | 5 | a0001c0001t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0038 others(2): Show |
5 | HG02486.hp2 HG02647.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-10200dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828758 | |||||||
| chr2:157828762 | TTTTG | T | 42 | a0001c0001t0002g0154 a0001c0002t0001g0029 a0001c0002t0001g0031 others(39): Show |
42 | HG01261.hp2 HG01891.hp2 HG02145.hp1 others(39): Show |
intron_variant | MODIFIER | c.-182-10207_-182-10 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828762 | |||||||
| chr2:157828825 | G | T | 78 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(75): Show |
78 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.-182-10266C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828825 | |||||||
| chr2:157828828 | A | G | 128 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(125): Show |
128 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(125): Show |
intron_variant | MODIFIER | c.-182-10269T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828828 | |||||||
| chr2:157828836 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-182-10277C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828836 | |||||||
| chr2:157829389 | C | A | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-10830G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829389 | |||||||
| chr2:157829473 | T | C | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-10914A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829473 | |||||||
| chr2:157829569 | C | T | 2 | a0001c0003t0001g0136 a0001c0003t0005g0007 |
2 | HG02922.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-182-11010G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829569 | |||||||
| chr2:157829596 | C | T | 1 | a0001c0001t0002g0086 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-182-11037G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829596 | |||||||
| chr2:157829682 | T | C | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-11123A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829682 | |||||||
| chr2:157829711 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-11152G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829711 | |||||||
| chr2:157829870 | T | C | 2 | a0001c0002t0001g0033 a0001c0003t0019g0143 |
2 | HG03130.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-182-11311A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157829870 | |||||||
| chr2:157830077 | G | T | 2 | a0001c0001t0002g0067 a0001c0001t0002g0153 |
2 | HG02004.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.-182-11518C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830077 | |||||||
| chr2:157830132 | T | C | 2 | a0001c0001t0007g0112 a0001c0002t0002g0147 |
2 | HG01169.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.-182-11573A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830132 | |||||||
| chr2:157830146 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-11587C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830146 | |||||||
| chr2:157830392 | TC | T | 7 | a0001c0001t0001g0106 a0001c0001t0002g0117 a0001c0001t0012g0012 others(4): Show |
7 | HG02040.hp2 HG03654.hp1 HG03710.hp2 others(4): Show |
intron_variant | MODIFIER | c.-182-11834delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830392 | |||||||
| chr2:157830478 | G | T | 9 | a0001c0001t0002g0154 a0001c0002t0001g0098 a0001c0002t0001g0099 others(6): Show |
9 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.-182-11919C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830478 | |||||||
| chr2:157830507 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-182-11948C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830507 | |||||||
| chr2:157830575 | C | T | 19 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.-182-12016G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830575 | |||||||
| chr2:157830733 | CA | C | 123 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(120): Show |
123 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.-182-12175delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830733 | |||||||
| chr2:157830733 | CAAA | C | 5 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(2): Show |
5 | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-12177_-182-12 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830733 | |||||||
| chr2:157830756 | A | AT | 3 | a0001c0001t0001g0127 a0001c0001t0002g0119 a0001c0005t0001g0123 |
3 | HG00408.hp1 HG02074.hp2 HG02135.hp2 |
intron_variant | MODIFIER | c.-182-12198dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830756 | |||||||
| chr2:157830968 | G | A | 1 | a0001c0002t0001g0034 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-182-12409C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830968 | |||||||
| chr2:157831304 | T | C | 2 | a0001c0002t0001g0029 a0001c0005t0001g0157 |
2 | HG02486.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-182-12745A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831304 | |||||||
| chr2:157831426 | T | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0131 |
2 | NA19240.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-182-12867A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831426 | |||||||
| chr2:157831545 | T | C | 13 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(10): Show |
13 | HG01261.hp2 HG02055.hp2 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.-182-12986A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831545 | |||||||
| chr2:157831578 | G | A | 3 | a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0003g0138 |
3 | HG03041.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-182-13019C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831578 | |||||||
| chr2:157831804 | T | C | 8 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show |
8 | HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-13245A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831804 | |||||||
| chr2:157831902 | T | C | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-182-13343A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157831902 | |||||||
| chr2:157832206 | G | A | 4 | a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 others(1): Show |
4 | HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-13647C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832206 | |||||||
| chr2:157832257 | C | T | 9 | a0001c0001t0002g0154 a0001c0002t0001g0098 a0001c0002t0001g0099 others(6): Show |
9 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.-182-13698G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832257 | |||||||
| chr2:157832635 | TG | T | 3 | a0001c0002t0001g0032 a0001c0002t0005g0002 a0001c0002t0007g0063 |
3 | HG01884.hp2 HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-182-14077delC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832635 | |||||||
| chr2:157832744 | A | G | 12 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(9): Show |
12 | HG02055.hp1 HG02109.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.-182-14185T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832744 | |||||||
| chr2:157832855 | G | T | 3 | a0001c0001t0001g0020 a0001c0002t0001g0125 a0001c0002t0001g0145 |
3 | HG02486.hp2 HG02647.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-182-14296C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832855 | |||||||
| chr2:157832979 | T | C | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-14420A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157832979 | |||||||
| chr2:157833071 | A | C | 1 | a0001c0001t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-182-14512T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833071 | |||||||
| chr2:157833077 | T | C | 8 | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show |
8 | HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-14518A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833077 | |||||||
| chr2:157833492 | G | A | 1 | a0001c0001t0001g0082 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-182-14933C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833492 | |||||||
| chr2:157833565 | A | G | 1 | a0001c0002t0001g0090 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-182-15006T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833565 | |||||||
| chr2:157833581 | G | A | 1 | a0001c0002t0015g0095 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-182-15022C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833581 | |||||||
| chr2:157833610 | A | C | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 |
3 | HG02135.hp1 NA18946.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.-182-15051T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833610 | |||||||
| chr2:157833764 | T | C | 1 | a0001c0002t0017g0122 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.-182-15205A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833764 | |||||||
| chr2:157833821 | G | A | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-15262C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833821 | |||||||
| chr2:157833901 | T | C | 1 | a0001c0002t0015g0095 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-182-15342A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157833901 | |||||||
| chr2:157834004 | A | G | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-182-15445T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834004 | |||||||
| chr2:157834051 | T | C | 89 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(86): Show |
89 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(86): Show |
intron_variant | MODIFIER | c.-182-15492A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834051 | |||||||
| chr2:157834137 | G | A | 6 | a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0018g0148 others(3): Show |
6 | HG02922.hp2 HG02970.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-15578C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834137 | |||||||
| chr2:157834229 | T | C | 5 | a0001c0001t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0038 others(2): Show |
5 | HG02486.hp2 HG02647.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-182-15670A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834229 | |||||||
| chr2:157834238 | C | T | 3 | a0001c0002t0001g0036 a0001c0003t0001g0071 a0001c0003t0005g0005 |
3 | HG02055.hp1 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-182-15679G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834238 | |||||||
| chr2:157834481 | T | C | 23 | a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 others(20): Show |
23 | HG00099.hp2 HG00408.hp1 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.-182-15922A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834481 | |||||||
| chr2:157834827 | G | A | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-182-16268C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834827 | |||||||
| chr2:157834948 | G | A | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-182-16389C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157834948 | |||||||
| chr2:157835195 | T | C | 2 | a0001c0001t0002g0076 a0001c0001t0007g0075 |
2 | NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.-182-16636A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835195 | |||||||
| chr2:157835414 | A | G | 87 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(84): Show |
87 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.-182-16855T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835414 | |||||||
| chr2:157835698 | A | G | 8 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(5): Show |
8 | HG01891.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-17139T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835698 | |||||||
| chr2:157835709 | T | C | 21 | a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 others(18): Show |
21 | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.-182-17150A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835709 | |||||||
| chr2:157835770 | G | C | 1 | a0001c0002t0017g0122 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.-182-17211C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835770 | |||||||
| chr2:157835775 | G | T | 1 | a0001c0001t0007g0112 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-182-17216C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835775 | |||||||
| chr2:157835932 | A | G | 1 | a0001c0002t0020g0163 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-182-17373T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157835932 | |||||||
| chr2:157836360 | G | C | 1 | a0001c0001t0002g0052 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-182-17801C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157836360 | |||||||
| chr2:157836570 | T | C | 74 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(71): Show |
74 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.-182-18011A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157836570 | |||||||
| chr2:157836936 | T | C | 7 | a0001c0002t0003g0015 a0001c0002t0003g0094 a0001c0002t0003g0096 others(4): Show |
7 | HG02559.hp1 HG02897.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-182-18377A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157836936 | |||||||
| chr2:157836943 | A | G | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-182-18384T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157836943 | |||||||
| chr2:157837027 | C | T | 1 | a0001c0002t0001g0029 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-182-18468G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837027 | |||||||
| chr2:157837407 | G | A | 3 | a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0006t0006g0140 |
3 | HG02257.hp1 HG03540.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-182-18848C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837407 | |||||||
| chr2:157837609 | C | T | 75 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(72): Show |
75 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(72): Show |
intron_variant | MODIFIER | c.-182-19050G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837609 | |||||||
| chr2:157837671 | C | T | 1 | a0001c0001t0002g0105 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-182-19112G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837671 | |||||||
| chr2:157837868 | G | A | 66 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0002g0068 others(63): Show |
66 | HG00099.hp1 HG00408.hp2 HG01074.hp1 others(63): Show |
intron_variant | MODIFIER | c.-182-19309C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837868 | |||||||
| chr2:157837927 | A | T | 1 | a0001c0001t0002g0074 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-182-19368T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157837927 | |||||||
| chr2:157838084 | C | CT | 15 | a0001c0001t0001g0088 a0001c0001t0002g0120 a0001c0002t0001g0029 others(12): Show |
15 | HG02080.hp1 HG02165.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.-182-19526dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838084 | |||||||
| chr2:157838088 | TC | T | 7 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 others(4): Show |
7 | HG02145.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.-182-19530delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838088 | |||||||
| chr2:157838089 | C | T | 1 | a0001c0001t0002g0117 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.-182-19530G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838089 | |||||||
| chr2:157838291 | T | G | 3 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0014g0087 |
3 | HG02165.hp1 NA18942.hp2 NA18981.hp1 |
intron_variant | MODIFIER | c.-182-19732A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838291 | |||||||
| chr2:157838306 | T | G | 139 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.-182-19747A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838306 | |||||||
| chr2:157838782 | G | T | 1 | a0001c0001t0001g0054 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-182-20223C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838782 | |||||||
| chr2:157838790 | A | G | 1 | a0001c0002t0001g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-182-20231T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838790 | |||||||
| chr2:157838960 | C | T | 1 | a0001c0003t0001g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-182-20401G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157838960 | |||||||
| chr2:157839120 | TC | T | 5 | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0056 others(2): Show |
5 | HG01243.hp2 HG01255.hp2 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.-182-20562delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839120 | |||||||
| chr2:157839261 | C | T | 1 | a0001c0001t0002g0086 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-182-20702G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839261 | |||||||
| chr2:157839347 | G | A | 6 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(3): Show |
6 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.-182-20788C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839347 | |||||||
| chr2:157839570 | A | C | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-182-21011T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839570 | |||||||
| chr2:157839762 | C | T | 1 | a0001c0003t0003g0144 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-182-21203G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839762 | |||||||
| chr2:157839954 | C | G | 1 | a0001c0002t0002g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-182-21395G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839954 | |||||||
| chr2:157839976 | T | G | 20 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(17): Show |
20 | HG00099.hp2 HG00735.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.-182-21417A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157839976 | |||||||
| chr2:157840015 | G | C | 23 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(20): Show |
23 | HG00099.hp2 HG00735.hp1 HG01261.hp2 others(20): Show |
intron_variant | MODIFIER | c.-182-21456C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840015 | |||||||
| chr2:157840017 | G | T | 3 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0045 |
3 | HG03654.hp1 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.-182-21458C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840017 | |||||||
| chr2:157840027 | A | T | 5 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(2): Show |
5 | HG02717.hp1 HG02809.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-182-21468T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840027 | |||||||
| chr2:157840075 | C | G | 5 | a0001c0002t0001g0024 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02559.hp1 HG02622.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-182-21516G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840075 | |||||||
| chr2:157840355 | A | C | 8 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(5): Show |
8 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-21796T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840355 | |||||||
| chr2:157840401 | G | A | 1 | a0001c0002t0003g0135 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-182-21842C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840401 | |||||||
| chr2:157840521 | CAA | C | 8 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(5): Show |
8 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.-182-21964_-182-21 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840521 | |||||||
| chr2:157840670 | C | T | 3 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 |
3 | HG02145.hp2 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.-182-22111G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840670 | |||||||
| chr2:157840749 | G | A | 1 | a0001c0003t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-182-22190C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840749 | |||||||
| chr2:157840867 | G | T | 2 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | NA18956.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.-182-22308C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840867 | |||||||
| chr2:157840983 | C | T | 1 | a0001c0002t0001g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-182-22424G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840983 | |||||||
| chr2:157840988 | C | T | 16 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(13): Show |
16 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.-182-22429G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157840988 | |||||||
| chr2:157841067 | G | A | 1 | a0001c0001t0002g0069 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-182-22508C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841067 | |||||||
| chr2:157841131 | C | A | 4 | a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0015g0095 others(1): Show |
4 | HG02559.hp1 HG02897.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-22572G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841131 | |||||||
| chr2:157841218 | G | GA | 27 | a0001c0001t0002g0086 a0001c0001t0002g0154 a0001c0001t0004g0164 others(24): Show |
27 | HG00735.hp1 HG02004.hp1 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.-182-22660dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841218 | |||||||
| chr2:157841608 | G | A | 4 | a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 others(1): Show |
4 | HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-23049C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841608 | |||||||
| chr2:157841740 | T | C | 58 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(55): Show |
58 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(55): Show |
intron_variant | MODIFIER | c.-182-23181A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841740 | |||||||
| chr2:157841772 | C | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-182-23213G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841772 | |||||||
| chr2:157841795 | A | G | 168 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(165): Show |
168 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(165): Show |
intron_variant | MODIFIER | c.-182-23236T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841795 | |||||||
| chr2:157841918 | T | G | 4 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0145 others(1): Show |
4 | HG02486.hp2 HG02895.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-23359A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157841918 | |||||||
| chr2:157842004 | G | A | 1 | a0001c0005t0001g0073 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.-182-23445C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842004 | |||||||
| chr2:157842023 | T | C | 1 | a0001c0001t0001g0114 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.-182-23464A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842023 | |||||||
| chr2:157842026 | C | CA | 125 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(122): Show |
125 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-182-23468dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842026 | |||||||
| chr2:157842026 | C | CAA | 13 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show |
13 | HG00735.hp1 HG02004.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-182-23469_-182-23 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842026 | |||||||
| chr2:157842151 | A | G | 4 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0145 others(1): Show |
4 | HG02486.hp2 HG02895.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-23592T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842151 | |||||||
| chr2:157842279 | A | G | 1 | a0001c0002t0011g0009 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-182-23720T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842279 | |||||||
| chr2:157842498 | A | G | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-182-23939T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842498 | |||||||
| chr2:157842562 | G | A | 1 | a0001c0001t0007g0075 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-182-24003C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842562 | |||||||
| chr2:157842902 | C | T | 5 | a0001c0002t0001g0024 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02559.hp1 HG02622.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-182-24343G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842902 | |||||||
| chr2:157843275 | G | T | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-182-24716C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157843275 | |||||||
| chr2:157843355 | C | T | 4 | a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 others(1): Show |
4 | HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-24796G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157843355 | |||||||
| chr2:157843469 | CATA | C | 12 | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0056 others(9): Show |
12 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.-182-24913_-182-24 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157843469 | |||||||
| chr2:157843588 | C | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-182-25029G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157843588 | |||||||
| chr2:157843921 | C | T | 1 | a0001c0001t0002g0105 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-182-25362G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157843921 | |||||||
| chr2:157844308 | C | T | 1 | a0001c0001t0002g0058 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-182-25749G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157844308 | |||||||
| chr2:157844454 | T | C | 4 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0145 others(1): Show |
4 | HG02486.hp2 HG02895.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-25895A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157844454 | |||||||
| chr2:157844549 | T | C | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-182-25990A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157844549 | |||||||
| chr2:157844745 | A | C | 1 | a0001c0002t0011g0009 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-182-26186T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157844745 | |||||||
| chr2:157845051 | G | A | 2 | a0001c0002t0003g0155 a0001c0003t0001g0136 |
2 | HG02257.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-182-26492C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157845051 | |||||||
| chr2:157845590 | T | TGTGGTAA others(27): Show |
4 | a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 others(1): Show |
4 | HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.-182-27065_-182-27 others(40): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157845590 | |||||||
| chr2:157845681 | G | A | 1 | a0001c0004t0009g0161 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-182-27122C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157845681 | |||||||
| chr2:157845949 | T | C | 1 | a0001c0002t0001g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-182-27390A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157845949 | |||||||
| chr2:157846051 | G | A | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-182-27492C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157846051 | |||||||
| chr2:157846304 | T | C | 1 | a0001c0002t0001g0142 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-182-27745A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157846304 | |||||||
| chr2:157846531 | T | G | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-182-27972A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157846531 | |||||||
| chr2:157847016 | A | C | 1 | a0001c0003t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-182-28457T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847016 | |||||||
| chr2:157847146 | T | C | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-182-28587A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847146 | |||||||
| chr2:157847201 | G | A | 6 | a0001c0001t0002g0080 a0001c0002t0001g0145 a0001c0002t0003g0094 others(3): Show |
6 | HG00099.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+28595C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847201 | |||||||
| chr2:157847552 | C | G | 1 | a0001c0002t0001g0033 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-183+28244G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847552 | |||||||
| chr2:157847562 | C | A | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0129 |
3 | HG00438.hp1 HG02135.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.-183+28234G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847562 | |||||||
| chr2:157847604 | G | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+28192C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847604 | |||||||
| chr2:157847682 | C | T | 4 | a0001c0001t0001g0020 a0001c0002t0003g0155 a0001c0002t0018g0148 others(1): Show |
4 | HG02257.hp2 HG02647.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+28114G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847682 | |||||||
| chr2:157847786 | T | C | 15 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(12): Show |
15 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.-183+28010A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847786 | |||||||
| chr2:157847933 | AC | A | 4 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(1): Show |
4 | HG02145.hp2 HG02622.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+27862delG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157847933 | |||||||
| chr2:157848027 | C | G | 5 | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+27769G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848027 | |||||||
| chr2:157848102 | C | G | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG03098.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+27694G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848102 | |||||||
| chr2:157848315 | GAC | G | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG03098.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+27479_-183+27 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848315 | |||||||
| chr2:157848398 | G | C | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-183+27398C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848398 | |||||||
| chr2:157848432 | C | A | 5 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(2): Show |
5 | HG00735.hp1 HG02004.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+27364G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848432 | |||||||
| chr2:157848454 | G | A | 1 | a0001c0001t0002g0013 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-183+27342C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848454 | |||||||
| chr2:157848605 | G | A | 11 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(8): Show |
11 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.-183+27191C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848605 | |||||||
| chr2:157848650 | T | C | 2 | a0001c0002t0003g0155 a0001c0003t0001g0136 |
2 | HG02257.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-183+27146A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848650 | |||||||
| chr2:157848782 | T | C | 1 | a0001c0001t0013g0165 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-183+27014A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157848782 | |||||||
| chr2:157849021 | T | C | 1 | a0001c0001t0002g0086 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-183+26775A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157849021 | |||||||
| chr2:157849115 | T | C | 1 | a0001c0001t0002g0055 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-183+26681A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157849115 | |||||||
| chr2:157849155 | A | C | 11 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(8): Show |
11 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.-183+26641T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157849155 | |||||||
| chr2:157849312 | T | C | 13 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0056 others(10): Show |
13 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.-183+26484A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157849312 | |||||||
| chr2:157849433 | C | T | 166 | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(163): Show |
166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): Show |
intron_variant | MODIFIER | c.-183+26363G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157849433 | |||||||
| chr2:157850274 | A | G | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+25522T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850274 | |||||||
| chr2:157850283 | G | C | 2 | a0001c0002t0002g0084 a0001c0002t0002g0085 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.-183+25513C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850283 | |||||||
| chr2:157850388 | C | CA | 5 | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+25407dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850388 | |||||||
| chr2:157850550 | G | A | 3 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0003t0001g0023 |
3 | HG02895.hp1 HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+25246C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850550 | |||||||
| chr2:157850655 | A | G | 3 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0003t0001g0023 |
3 | HG02895.hp1 HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+25141T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850655 | |||||||
| chr2:157850912 | G | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+24884C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157850912 | |||||||
| chr2:157851247 | G | C | 5 | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+24549C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851247 | |||||||
| chr2:157851485 | C | T | 1 | a0001c0003t0001g0104 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-183+24311G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851485 | |||||||
| chr2:157851844 | G | A | 4 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(1): Show |
4 | HG01243.hp2 HG01255.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+23952C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851844 | |||||||
| chr2:157851855 | AAAC | A | 2 | a0001c0001t0001g0115 a0001c0001t0002g0050 |
2 | HG02074.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.-183+23938_-183+23 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851855 | |||||||
| chr2:157851855 | AAACACAC | A | 2 | a0001c0001t0002g0129 a0001c0003t0005g0007 |
2 | HG00438.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.-183+23934_-183+23 others(13): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851855 | |||||||
| chr2:157851886 | CACACACA others(10): Show |
C | 5 | a0001c0001t0001g0082 a0001c0002t0001g0107 a0001c0004t0008g0110 others(2): Show |
5 | HG02257.hp1 HG03225.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+23893_-183+23 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851886 | |||||||
| chr2:157851890 | CACACACA others(6): Show |
C | 1 | a0001c0002t0001g0142 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-183+23893_-183+23 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851890 | |||||||
| chr2:157851894 | CACACACA others(2): Show |
C | 51 | a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0106 others(48): Show |
51 | HG00735.hp1 HG01074.hp1 HG01074.hp2 others(48): Show |
intron_variant | MODIFIER | c.-183+23893_-183+23 others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851894 | |||||||
| chr2:157851896 | CACACACA | C | 16 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0056 others(13): Show |
16 | HG01255.hp2 HG01884.hp1 HG01978.hp1 others(13): Show |
intron_variant | MODIFIER | c.-183+23893_-183+23 others(13): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851896 | |||||||
| chr2:157851898 | CACACA | C | 49 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 others(46): Show |
49 | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(46): Show |
intron_variant | MODIFIER | c.-183+23893_-183+23 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851898 | |||||||
| chr2:157851900 | CACA | C | 20 | a0001c0001t0001g0041 a0001c0001t0001g0079 a0001c0001t0001g0127 others(17): Show |
20 | HG00408.hp1 HG00408.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.-183+23893_-183+23 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851900 | |||||||
| chr2:157851901 | A | AC | 2 | a0001c0002t0003g0133 a0001c0002t0003g0135 |
2 | HG03453.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.-183+23894dupG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851901 | |||||||
| chr2:157851902 | CA | C | 14 | a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0002g0050 others(11): Show |
14 | HG00438.hp1 HG01261.hp2 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.-183+23893delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851902 | |||||||
| chr2:157851905 | A | C | 11 | a0001c0001t0002g0078 a0001c0001t0007g0075 a0001c0002t0003g0017 others(8): Show |
11 | HG02109.hp2 HG02145.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.-183+23891T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851905 | |||||||
| chr2:157851906 | C | A | 11 | a0001c0001t0002g0078 a0001c0001t0007g0075 a0001c0002t0003g0017 others(8): Show |
11 | HG02109.hp2 HG02145.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.-183+23890G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851906 | |||||||
| chr2:157851906 | C | CCA | 5 | a0001c0002t0001g0145 a0001c0002t0015g0095 a0001c0003t0001g0023 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+23889_-183+23 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851906 | |||||||
| chr2:157851907 | A | C | 16 | a0001c0001t0002g0078 a0001c0001t0007g0075 a0001c0002t0001g0145 others(13): Show |
16 | HG02109.hp2 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.-183+23889T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851907 | |||||||
| chr2:157851912 | A | C | 3 | a0001c0002t0001g0145 a0001c0002t0015g0095 a0001c0003t0003g0144 |
3 | HG02486.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-183+23884T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851912 | |||||||
| chr2:157851915 | C | A | 1 | a0001c0001t0002g0092 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-183+23881G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851915 | |||||||
| chr2:157852043 | T | C | 5 | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+23753A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852043 | |||||||
| chr2:157852097 | A | C | 1 | a0001c0001t0002g0049 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-183+23699T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852097 | |||||||
| chr2:157852298 | G | A | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-183+23498C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852298 | |||||||
| chr2:157852325 | C | A | 58 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(55): Show |
58 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(55): Show |
intron_variant | MODIFIER | c.-183+23471G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852325 | |||||||
| chr2:157852388 | T | C | 4 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(1): Show |
4 | HG02717.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+23408A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852388 | |||||||
| chr2:157852410 | C | T | 1 | a0001c0005t0001g0073 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.-183+23386G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852410 | |||||||
| chr2:157852422 | G | C | 5 | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0096 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+23374C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852422 | |||||||
| chr2:157852452 | A | G | 39 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(36): Show |
39 | HG00099.hp2 HG01261.hp2 HG01978.hp2 others(36): Show |
intron_variant | MODIFIER | c.-183+23344T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852452 | |||||||
| chr2:157852486 | G | A | 1 | a0001c0002t0007g0063 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-183+23310C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852486 | |||||||
| chr2:157852498 | C | CA | 24 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(21): Show |
24 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.-183+23297dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852498 | |||||||
| chr2:157852498 | CAAAAAAA others(2): Show |
C | 7 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+23289_-183+23 others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852498 | |||||||
| chr2:157852512 | AG | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+23283delC | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852512 | |||||||
| chr2:157852670 | A | T | 2 | a0001c0001t0001g0020 a0001c0002t0018g0148 |
2 | HG02647.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.-183+23126T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852670 | |||||||
| chr2:157852738 | C | T | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-183+23058G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852738 | |||||||
| chr2:157852953 | G | T | 17 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(14): Show |
17 | HG02055.hp2 HG02109.hp1 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.-183+22843C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852953 | |||||||
| chr2:157852982 | A | G | 10 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0056 others(7): Show |
10 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.-183+22814T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157852982 | |||||||
| chr2:157853027 | G | A | 1 | a0001c0003t0005g0005 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-183+22769C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853027 | |||||||
| chr2:157853037 | C | T | 1 | a0001c0001t0013g0166 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-183+22759G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853037 | |||||||
| chr2:157853053 | A | G | 21 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(18): Show |
21 | HG00099.hp2 HG01261.hp2 HG01978.hp2 others(18): Show |
intron_variant | MODIFIER | c.-183+22743T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853053 | |||||||
| chr2:157853093 | T | C | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+22703A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853093 | |||||||
| chr2:157853129 | T | C | 21 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(18): Show |
21 | HG00099.hp2 HG01261.hp2 HG01978.hp2 others(18): Show |
intron_variant | MODIFIER | c.-183+22667A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853129 | |||||||
| chr2:157853166 | A | G | 63 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0056 others(60): Show |
63 | HG00099.hp2 HG00735.hp1 HG01243.hp2 others(60): Show |
intron_variant | MODIFIER | c.-183+22630T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853166 | |||||||
| chr2:157853522 | G | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+22274C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853522 | |||||||
| chr2:157853709 | T | C | 1 | a0001c0001t0002g0120 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-183+22087A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853709 | |||||||
| chr2:157853810 | T | C | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+21986A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157853810 | |||||||
| chr2:157854041 | G | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+21755C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854041 | |||||||
| chr2:157854070 | T | A | 1 | a0001c0003t0001g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-183+21726A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854070 | |||||||
| chr2:157854190 | C | T | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+21606G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854190 | |||||||
| chr2:157854199 | T | TAAA | 36 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0108 others(33): Show |
36 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(33): Show |
intron_variant | MODIFIER | c.-183+21594_-183+21 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854199 | |||||||
| chr2:157854199 | TA | T | 33 | a0001c0001t0001g0020 a0001c0001t0002g0069 a0001c0001t0002g0074 others(30): Show |
33 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(30): Show |
intron_variant | MODIFIER | c.-183+21596delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854199 | |||||||
| chr2:157854199 | TAA | T | 13 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show |
13 | HG00735.hp1 HG02004.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.-183+21595_-183+21 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854199 | |||||||
| chr2:157854375 | T | C | 1 | a0001c0006t0006g0160 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-183+21421A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854375 | |||||||
| chr2:157854425 | GAA | G | 4 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(1): Show |
4 | HG01243.hp2 HG01255.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+21369_-183+21 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854425 | |||||||
| chr2:157854722 | C | CA | 12 | a0001c0001t0001g0116 a0001c0001t0010g0003 a0001c0002t0001g0025 others(9): Show |
12 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.-183+21073dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854722 | |||||||
| chr2:157854931 | CAGG | C | 6 | a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0004t0009g0083 others(3): Show |
6 | HG01261.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+20862_-183+20 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157854931 | |||||||
| chr2:157855029 | C | T | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+20767G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855029 | |||||||
| chr2:157855268 | AAGTGTGT others(4): Show |
A | 1 | a0001c0002t0002g0147 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-183+20517_-183+20 others(17): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855268 | |||||||
| chr2:157855269 | A | AGT | 4 | a0001c0001t0002g0049 a0001c0001t0012g0012 a0001c0003t0001g0014 others(1): Show |
4 | HG00735.hp2 HG02109.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+20525_-183+20 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | A | T | 1 | a0001c0001t0001g0054 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-183+20527T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGT | A | 16 | a0001c0001t0001g0127 a0001c0001t0002g0046 a0001c0001t0002g0058 others(13): Show |
16 | HG00408.hp1 HG00558.hp2 HG01978.hp2 others(13): Show |
intron_variant | MODIFIER | c.-183+20525_-183+20 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTG | A | 8 | a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 others(5): Show |
8 | HG02109.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.-183+20524_-183+20 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGT | A | 13 | a0001c0001t0002g0062 a0001c0002t0001g0100 a0001c0002t0001g0101 others(10): Show |
13 | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.-183+20523_-183+20 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGT | A | 7 | a0001c0001t0001g0057 a0001c0001t0002g0128 a0001c0002t0001g0089 others(4): Show |
7 | HG00099.hp2 HG00438.hp2 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.-183+20521_-183+20 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGTG others(1): Show |
A | 10 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0129 others(7): Show |
10 | HG00438.hp1 HG02970.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.-183+20519_-183+20 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGTG others(3): Show |
A | 16 | a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 others(13): Show |
16 | HG02040.hp2 HG02074.hp2 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.-183+20517_-183+20 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGTG others(5): Show |
A | 4 | a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0154 others(1): Show |
4 | HG03704.hp1 NA18965.hp2 NA18978.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+20515_-183+20 others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGTG others(7): Show |
A | 4 | a0001c0001t0001g0106 a0001c0002t0003g0094 a0001c0002t0003g0096 others(1): Show |
4 | HG02897.hp1 HG03579.hp2 NA18981.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+20513_-183+20 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855269 | AGTGTGTG others(9): Show |
A | 2 | a0001c0002t0001g0145 a0001c0003t0003g0144 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-183+20511_-183+20 others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855269 | |||||||
| chr2:157855271 | T | A | 1 | a0001c0002t0011g0009 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-183+20525A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855271 | |||||||
| chr2:157855273 | T | A | 8 | a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 others(5): Show |
8 | HG02109.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.-183+20523A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855273 | |||||||
| chr2:157855275 | T | A | 1 | a0001c0002t0001g0035 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-183+20521A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855275 | |||||||
| chr2:157855296 | GTGTGTGT others(7): Show |
G | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-183+20486_-183+20 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855296 | |||||||
| chr2:157855298 | GTGTGTGT others(5): Show |
G | 8 | a0001c0001t0001g0056 a0001c0001t0002g0052 a0001c0002t0001g0134 others(5): Show |
8 | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+20486_-183+20 others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855298 | |||||||
| chr2:157855300 | G | A | 1 | a0001c0001t0001g0051 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-183+20496C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855300 | |||||||
| chr2:157855300 | G | GTATATAT others(1): Show |
2 | a0001c0002t0001g0038 a0001c0003t0001g0023 |
2 | HG02895.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+20495_-183+20 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855300 | |||||||
| chr2:157855300 | GTGTGTGT others(3): Show |
G | 4 | a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0026 others(1): Show |
4 | HG02145.hp2 HG02622.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+20486_-183+20 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855300 | |||||||
| chr2:157855302 | G | A | 5 | a0001c0001t0002g0129 a0001c0002t0001g0037 a0001c0002t0001g0038 others(2): Show |
5 | HG00438.hp1 HG02895.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+20494C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855302 | |||||||
| chr2:157855304 | G | A | 23 | a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 others(20): Show |
23 | HG00438.hp1 HG01169.hp2 HG02135.hp1 others(20): Show |
intron_variant | MODIFIER | c.-183+20492C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855304 | |||||||
| chr2:157855306 | G | A | 58 | a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 others(55): Show |
58 | HG00438.hp1 HG01168.hp2 HG01169.hp1 others(55): Show |
intron_variant | MODIFIER | c.-183+20490C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855306 | |||||||
| chr2:157855308 | G | A | 100 | a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0082 others(97): Show |
100 | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(97): Show |
intron_variant | MODIFIER | c.-183+20488C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855308 | |||||||
| chr2:157855308 | G | GTATATA | 2 | a0001c0002t0004g0172 a0001c0006t0006g0022 |
2 | HG03098.hp2 NA18978.hp2 |
intron_variant | MODIFIER | c.-183+20482_-183+20 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855308 | |||||||
| chr2:157855308 | G | GTGTGTAT others(9): Show |
1 | a0001c0002t0001g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-183+20487_-183+20 others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855308 | |||||||
| chr2:157855308 | G | GTGTGTGT others(3): Show |
1 | a0001c0001t0013g0166 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-183+20487_-183+20 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855308 | |||||||
| chr2:157855308 | G | GTGTGTGT others(5): Show |
1 | a0001c0001t0004g0164 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-183+20487_-183+20 others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855308 | |||||||
| chr2:157855310 | A | G | 8 | a0001c0001t0001g0042 a0001c0001t0002g0043 a0001c0001t0002g0068 others(5): Show |
8 | HG00408.hp2 HG02109.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-183+20486T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855310 | |||||||
| chr2:157855312 | A | G | 1 | a0001c0001t0002g0043 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-183+20484T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855312 | |||||||
| chr2:157855317 | T | C | 1 | a0001c0001t0002g0074 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-183+20479A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855317 | |||||||
| chr2:157855319 | T | C | 30 | a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0082 others(27): Show |
30 | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.-183+20477A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855319 | |||||||
| chr2:157855319 | T | TAC | 18 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0054 others(15): Show |
18 | HG01168.hp1 HG01255.hp1 HG02004.hp2 others(15): Show |
intron_variant | MODIFIER | c.-183+20476_-183+20 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855319 | |||||||
| chr2:157855321 | T | C | 51 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 others(48): Show |
51 | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.-183+20475A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855321 | |||||||
| chr2:157855321 | T | TACAC | 4 | a0001c0001t0001g0042 a0001c0001t0002g0068 a0001c0001t0002g0105 others(1): Show |
4 | HG00408.hp2 NA18951.hp2 NA18954.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+20474_-183+20 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855321 | |||||||
| chr2:157855323 | T | C | 57 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(54): Show |
57 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(54): Show |
intron_variant | MODIFIER | c.-183+20473A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855323 | |||||||
| chr2:157855323 | TACAC | T | 8 | a0001c0001t0002g0086 a0001c0001t0002g0154 a0001c0002t0001g0145 others(5): Show |
8 | HG01074.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.-183+20469_-183+20 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855323 | |||||||
| chr2:157855323 | TACACAC | T | 6 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(3): Show |
6 | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+20467_-183+20 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855323 | |||||||
| chr2:157855325 | C | T | 94 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0056 others(91): Show |
94 | HG00099.hp2 HG00438.hp1 HG00735.hp1 others(91): Show |
intron_variant | MODIFIER | c.-183+20471G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855325 | |||||||
| chr2:157855327 | C | T | 79 | a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0001t0001g0108 others(76): Show |
79 | HG00099.hp2 HG00438.hp1 HG00735.hp1 others(76): Show |
intron_variant | MODIFIER | c.-183+20469G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855327 | |||||||
| chr2:157855329 | C | T | 56 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(53): Show |
56 | HG00099.hp2 HG00735.hp1 HG01074.hp1 others(53): Show |
intron_variant | MODIFIER | c.-183+20467G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855329 | |||||||
| chr2:157855331 | C | T | 13 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(10): Show |
13 | HG02055.hp2 HG02109.hp1 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.-183+20465G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855331 | |||||||
| chr2:157855341 | C | A | 3 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0003t0001g0023 |
3 | HG02895.hp1 HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+20455G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855341 | |||||||
| chr2:157855343 | C | A | 25 | a0001c0002t0001g0024 a0001c0002t0001g0037 a0001c0002t0001g0038 others(22): Show |
25 | HG00099.hp2 HG01261.hp2 HG01978.hp2 others(22): Show |
intron_variant | MODIFIER | c.-183+20453G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855343 | |||||||
| chr2:157855345 | C | A | 30 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(27): Show |
30 | HG00099.hp2 HG00735.hp1 HG01261.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183+20451G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855345 | |||||||
| chr2:157855347 | A | C | 1 | a0001c0001t0001g0082 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-183+20449T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855347 | |||||||
| chr2:157855394 | G | A | 1 | a0001c0001t0002g0074 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-183+20402C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855394 | |||||||
| chr2:157855452 | G | A | 1 | a0001c0001t0013g0165 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-183+20344C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855452 | |||||||
| chr2:157855807 | G | A | 5 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+19989C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157855807 | |||||||
| chr2:157856022 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-183+19774G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856022 | |||||||
| chr2:157856026 | C | T | 56 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(53): Show |
56 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.-183+19770G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856026 | |||||||
| chr2:157856101 | G | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0154 |
2 | HG03704.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-183+19695C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856101 | |||||||
| chr2:157856120 | C | T | 6 | a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0004t0009g0083 others(3): Show |
6 | HG01261.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+19676G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856120 | |||||||
| chr2:157856256 | C | T | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+19540G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856256 | |||||||
| chr2:157856477 | T | C | 2 | a0001c0002t0001g0145 a0001c0003t0003g0144 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-183+19319A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856477 | |||||||
| chr2:157856602 | T | C | 1 | a0001c0001t0002g0039 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-183+19194A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856602 | |||||||
| chr2:157856841 | C | T | 1 | a0001c0002t0003g0094 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-183+18955G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157856841 | |||||||
| chr2:157857075 | G | A | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-183+18721C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157857075 | |||||||
| chr2:157857151 | T | C | 5 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(2): Show |
5 | HG00735.hp1 HG02004.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+18645A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157857151 | |||||||
| chr2:157857228 | C | G | 3 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0003t0001g0023 |
3 | HG02895.hp1 HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+18568G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157857228 | |||||||
| chr2:157857595 | C | T | 14 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(11): Show |
14 | HG02055.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.-183+18201G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157857595 | |||||||
| chr2:157857924 | T | C | 11 | a0001c0001t0010g0003 a0001c0002t0001g0025 a0001c0002t0001g0026 others(8): Show |
11 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.-183+17872A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157857924 | |||||||
| chr2:157858110 | A | G | 24 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0114 others(21): Show |
24 | HG00408.hp1 HG00558.hp1 HG02040.hp2 others(21): Show |
intron_variant | MODIFIER | c.-183+17686T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858110 | |||||||
| chr2:157858257 | C | T | 1 | a0001c0005t0001g0123 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-183+17539G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858257 | |||||||
| chr2:157858381 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-183+17415A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858381 | |||||||
| chr2:157858381 | T | TTTACCG | 8 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+17409_-183+17 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858381 | |||||||
| chr2:157858570 | C | G | 1 | a0001c0006t0006g0121 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-183+17226G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858570 | |||||||
| chr2:157858599 | C | G | 2 | a0001c0005t0001g0157 a0001c0006t0006g0022 |
2 | HG03098.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-183+17197G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858599 | |||||||
| chr2:157858641 | G | A | 4 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(1): Show |
4 | HG02717.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+17155C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858641 | |||||||
| chr2:157858689 | G | A | 6 | a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0035 others(3): Show |
6 | HG02109.hp1 HG02486.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+17107C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858689 | |||||||
| chr2:157858853 | A | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+16943T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858853 | |||||||
| chr2:157858870 | C | T | 3 | a0001c0002t0020g0163 a0001c0006t0006g0121 a0001c0006t0006g0160 |
3 | HG02109.hp1 HG02647.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.-183+16926G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858870 | |||||||
| chr2:157858930 | C | T | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+16866G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858930 | |||||||
| chr2:157858953 | C | T | 11 | a0001c0001t0010g0003 a0001c0002t0001g0025 a0001c0002t0001g0026 others(8): Show |
11 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.-183+16843G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157858953 | |||||||
| chr2:157859053 | G | A | 1 | a0001c0002t0005g0002 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-183+16743C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859053 | |||||||
| chr2:157859154 | G | T | 13 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(10): Show |
13 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.-183+16642C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859154 | |||||||
| chr2:157859203 | G | A | 1 | a0001c0001t0002g0062 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-183+16593C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859203 | |||||||
| chr2:157859262 | C | T | 1 | a0001c0005t0001g0064 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.-183+16534G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859262 | |||||||
| chr2:157859402 | C | T | 153 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(150): Show |
153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.-183+16394G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859402 | |||||||
| chr2:157859423 | C | T | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+16373G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859423 | |||||||
| chr2:157859504 | C | T | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+16292G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859504 | |||||||
| chr2:157859601 | C | G | 1 | a0001c0001t0001g0057 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-183+16195G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859601 | |||||||
| chr2:157859603 | G | A | 1 | a0001c0001t0002g0069 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-183+16193C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859603 | |||||||
| chr2:157859805 | T | C | 1 | a0001c0002t0003g0156 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-183+15991A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157859805 | |||||||
| chr2:157860014 | C | T | 6 | a0001c0002t0001g0142 a0001c0002t0011g0009 a0001c0002t0011g0010 others(3): Show |
6 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.-183+15782G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860014 | |||||||
| chr2:157860064 | T | C | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+15732A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860064 | |||||||
| chr2:157860222 | C | T | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+15574G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860222 | |||||||
| chr2:157860263 | C | T | 1 | a0001c0003t0005g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-183+15533G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860263 | |||||||
| chr2:157860643 | T | A | 156 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(153): Show |
intron_variant | MODIFIER | c.-183+15153A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860643 | |||||||
| chr2:157860785 | G | A | 27 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(24): Show |
27 | HG00735.hp1 HG01261.hp2 HG02004.hp1 others(24): Show |
intron_variant | MODIFIER | c.-183+15011C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157860785 | |||||||
| chr2:157861016 | T | C | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+14780A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861016 | |||||||
| chr2:157861252 | T | C | 1 | a0001c0003t0001g0071 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-183+14544A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861252 | |||||||
| chr2:157861347 | G | A | 7 | a0001c0002t0001g0142 a0001c0002t0011g0009 a0001c0002t0011g0010 others(4): Show |
7 | HG01243.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+14449C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861347 | |||||||
| chr2:157861354 | G | A | 47 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(44): Show |
47 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(44): Show |
intron_variant | MODIFIER | c.-183+14442C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861354 | |||||||
| chr2:157861454 | C | T | 65 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(62): Show |
65 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(62): Show |
intron_variant | MODIFIER | c.-183+14342G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861454 | |||||||
| chr2:157861853 | A | T | 7 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+13943T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861853 | |||||||
| chr2:157861868 | T | C | 94 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(91): Show |
94 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.-183+13928A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157861868 | |||||||
| chr2:157862140 | A | C | 7 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+13656T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862140 | |||||||
| chr2:157862143 | C | A | 68 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(65): Show |
68 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.-183+13653G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862143 | |||||||
| chr2:157862298 | G | C | 1 | a0001c0001t0002g0113 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-183+13498C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862298 | |||||||
| chr2:157862362 | A | G | 2 | a0001c0002t0001g0037 a0001c0002t0001g0038 |
2 | HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+13434T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862362 | |||||||
| chr2:157862366 | C | G | 1 | a0001c0001t0002g0078 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-183+13430G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862366 | |||||||
| chr2:157862422 | T | TAC | 7 | a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0003g0135 others(4): Show |
7 | HG01884.hp2 HG01891.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+13372_-183+13 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACAC | 12 | a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0116 others(9): Show |
12 | HG01169.hp2 HG02647.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.-183+13370_-183+13 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACAC | 15 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 others(12): Show |
15 | HG00438.hp1 HG00558.hp1 HG02040.hp1 others(12): Show |
intron_variant | MODIFIER | c.-183+13368_-183+13 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACACA others(1): Show |
25 | a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0137 others(22): Show |
25 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(22): Show |
intron_variant | MODIFIER | c.-183+13366_-183+13 others(14): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACACA others(3): Show |
6 | a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0002g0118 others(3): Show |
6 | HG00408.hp1 HG02055.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.-183+13364_-183+13 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACACA others(5): Show |
1 | a0001c0002t0005g0006 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-183+13362_-183+13 others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACACA others(7): Show |
2 | a0001c0002t0001g0031 a0001c0002t0001g0032 |
2 | HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-183+13360_-183+13 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | T | TACACACA others(11): Show |
1 | a0001c0004t0008g0030 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-183+13356_-183+13 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | TAC | T | 17 | a0001c0001t0001g0082 a0001c0001t0002g0153 a0001c0001t0016g0152 others(14): Show |
17 | HG02145.hp2 HG02257.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.-183+13372_-183+13 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | TACAC | T | 51 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(48): Show |
51 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(48): Show |
intron_variant | MODIFIER | c.-183+13370_-183+13 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | TACACAC | T | 3 | a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0015g0095 |
3 | HG02897.hp1 HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-183+13368_-183+13 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862422 | TACACACA others(3): Show |
T | 9 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(6): Show |
9 | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(6): Show |
intron_variant | MODIFIER | c.-183+13364_-183+13 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862422 | |||||||
| chr2:157862453 | A | G | 2 | a0001c0002t0001g0024 a0001c0003t0001g0023 |
2 | HG02622.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-183+13343T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862453 | |||||||
| chr2:157862573 | TGAAAAGG others(304): Show |
T | 158 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(155): Show |
158 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.-183+12912_-183+13 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862573 | |||||||
| chr2:157862869 | C | CAAAAAAA others(7): Show |
3 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 |
3 | HG02486.hp1 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-183+12913_-183+12 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862869 | |||||||
| chr2:157862869 | C | CAAAAAAA others(8): Show |
1 | a0001c0004t0008g0030 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-183+12912_-183+12 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862869 | |||||||
| chr2:157862869 | C | CAAAAAAA others(9): Show |
1 | a0001c0002t0003g0096 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-183+12926_-183+12 others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862869 | |||||||
| chr2:157862869 | C | CAAAAAAA others(10): Show |
1 | a0001c0002t0003g0094 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-183+12926_-183+12 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862869 | |||||||
| chr2:157862869 | C | CAAAAAAA others(11): Show |
1 | a0001c0002t0015g0095 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-183+12926_-183+12 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862869 | |||||||
| chr2:157862941 | AT | A | 70 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(67): Show |
70 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-183+12854delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157862941 | |||||||
| chr2:157863011 | CT | C | 17 | a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 others(14): Show |
17 | HG01169.hp1 HG01261.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.-183+12784delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTT | C | 47 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(44): Show |
47 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(44): Show |
intron_variant | MODIFIER | c.-183+12783_-183+12 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTT | C | 16 | a0001c0001t0001g0056 a0001c0001t0001g0114 a0001c0001t0001g0116 others(13): Show |
16 | HG01169.hp2 HG01891.hp1 HG01978.hp1 others(13): Show |
intron_variant | MODIFIER | c.-183+12782_-183+12 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTTT | C | 56 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(53): Show |
56 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.-183+12781_-183+12 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTTTT | C | 5 | a0001c0001t0002g0069 a0001c0001t0002g0151 a0001c0001t0013g0165 others(2): Show |
5 | HG00558.hp2 HG03486.hp2 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+12780_-183+12 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTTTTT | C | 12 | a0001c0001t0004g0164 a0001c0001t0013g0166 a0001c0002t0001g0142 others(9): Show |
12 | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(9): Show |
intron_variant | MODIFIER | c.-183+12779_-183+12 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTTTTTT others(5): Show |
C | 1 | a0001c0004t0009g0083 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-183+12773_-183+12 others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863011 | CTTTTTTT others(10): Show |
C | 3 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 |
3 | HG00099.hp2 HG01978.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.-183+12768_-183+12 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863011 | |||||||
| chr2:157863067 | G | C | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+12729C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863067 | |||||||
| chr2:157863077 | G | A | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+12719C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863077 | |||||||
| chr2:157863217 | T | C | 2 | a0001c0001t0013g0165 a0001c0001t0013g0166 |
2 | HG02004.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.-183+12579A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863217 | |||||||
| chr2:157863251 | G | A | 1 | a0001c0001t0002g0053 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-183+12545C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863251 | |||||||
| chr2:157863336 | C | CT | 8 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 others(5): Show |
8 | HG02257.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+12459dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | C | CTTT | 20 | a0001c0001t0001g0051 a0001c0001t0002g0039 a0001c0001t0002g0046 others(17): Show |
20 | HG00408.hp2 HG00735.hp2 HG01168.hp1 others(17): Show |
intron_variant | MODIFIER | c.-183+12457_-183+12 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | C | CTTTT | 21 | a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 others(18): Show |
21 | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.-183+12456_-183+12 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | C | CTTTTT | 9 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0082 others(6): Show |
9 | HG00099.hp2 HG01243.hp1 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.-183+12455_-183+12 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | CTT | C | 29 | a0001c0001t0001g0093 a0001c0001t0002g0092 a0001c0001t0002g0119 others(26): Show |
29 | HG00438.hp1 HG00558.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183+12458_-183+12 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | CTTT | C | 36 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0108 others(33): Show |
36 | HG00408.hp1 HG01169.hp2 HG02040.hp2 others(33): Show |
intron_variant | MODIFIER | c.-183+12457_-183+12 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | CTTTT | C | 19 | a0001c0001t0010g0003 a0001c0002t0001g0024 a0001c0002t0001g0098 others(16): Show |
19 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.-183+12456_-183+12 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+12450_-183+12 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863336 | CTTTTTTT others(8): Show |
C | 2 | a0001c0002t0001g0145 a0001c0003t0003g0144 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-183+12445_-183+12 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863336 | |||||||
| chr2:157863339 | T | C | 1 | a0001c0001t0013g0165 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-183+12457A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863339 | |||||||
| chr2:157863340 | T | C | 11 | a0001c0001t0004g0164 a0001c0001t0013g0166 a0001c0002t0003g0156 others(8): Show |
11 | HG00735.hp1 HG02004.hp1 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.-183+12456A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863340 | |||||||
| chr2:157863445 | C | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+12351G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863445 | |||||||
| chr2:157863448 | G | C | 1 | a0001c0001t0001g0109 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.-183+12348C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863448 | |||||||
| chr2:157863466 | G | C | 63 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(60): Show |
63 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.-183+12330C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863466 | |||||||
| chr2:157863482 | T | C | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+12314A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863482 | |||||||
| chr2:157863495 | G | A | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-183+12301C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863495 | |||||||
| chr2:157863673 | G | A | 1 | a0001c0003t0019g0143 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-183+12123C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863673 | |||||||
| chr2:157863867 | C | CT | 6 | a0001c0001t0012g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 others(3): Show |
6 | HG02647.hp1 HG02809.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+11928dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863867 | |||||||
| chr2:157863867 | CT | C | 21 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(18): Show |
21 | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(18): Show |
intron_variant | MODIFIER | c.-183+11928delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863867 | |||||||
| chr2:157863895 | T | C | 3 | a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0015g0095 |
3 | HG02897.hp1 HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-183+11901A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863895 | |||||||
| chr2:157863946 | G | A | 6 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(3): Show |
6 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183+11850C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863946 | |||||||
| chr2:157864065 | T | C | 12 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show |
12 | HG00735.hp1 HG02004.hp1 HG02922.hp1 others(9): Show |
intron_variant | MODIFIER | c.-183+11731A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864065 | |||||||
| chr2:157864347 | T | A | 158 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(155): Show |
158 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.-183+11449A>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864347 | |||||||
| chr2:157864519 | C | T | 7 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+11277G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864519 | |||||||
| chr2:157864589 | A | T | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+11207T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864589 | |||||||
| chr2:157864716 | C | G | 12 | a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 others(9): Show |
12 | HG00438.hp1 HG00558.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.-183+11080G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864716 | |||||||
| chr2:157864716 | C | T | 6 | a0001c0002t0001g0142 a0001c0002t0011g0009 a0001c0002t0011g0010 others(3): Show |
6 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.-183+11080G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864716 | |||||||
| chr2:157864960 | A | T | 1 | a0001c0003t0001g0139 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-183+10836T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157864960 | |||||||
| chr2:157865015 | T | C | 1 | a0001c0001t0002g0080 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-183+10781A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865015 | |||||||
| chr2:157865047 | C | G | 158 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(155): Show |
158 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.-183+10749G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865047 | |||||||
| chr2:157865099 | GA | G | 135 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(132): Show |
135 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(132): Show |
intron_variant | MODIFIER | c.-183+10696delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865099 | |||||||
| chr2:157865099 | GAA | G | 5 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0003g0156 others(2): Show |
5 | HG02055.hp2 HG02258.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+10695_-183+10 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865099 | |||||||
| chr2:157865530 | G | A | 76 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 others(73): Show |
76 | HG00408.hp1 HG00438.hp1 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.-183+10266C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865530 | |||||||
| chr2:157865544 | C | T | 5 | a0001c0002t0001g0134 a0001c0002t0003g0133 a0001c0002t0003g0135 others(2): Show |
5 | HG01884.hp2 HG01891.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+10252G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865544 | |||||||
| chr2:157865582 | G | A | 2 | a0001c0002t0001g0024 a0001c0003t0001g0023 |
2 | HG02622.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-183+10214C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865582 | |||||||
| chr2:157865690 | G | A | 2 | a0001c0002t0001g0025 a0001c0002t0001g0026 |
2 | HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.-183+10106C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865690 | |||||||
| chr2:157865771 | G | A | 13 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show |
13 | HG00735.hp1 HG02004.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.-183+10025C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865771 | |||||||
| chr2:157865795 | C | CA | 77 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(74): Show |
77 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.-183+10000dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865795 | |||||||
| chr2:157865795 | CAA | C | 14 | a0001c0002t0001g0024 a0001c0002t0001g0098 a0001c0002t0001g0099 others(11): Show |
14 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.-183+9999_-183+100 others(7): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865795 | |||||||
| chr2:157865821 | A | AAGAT | 46 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 others(43): Show |
46 | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-183+9971_-183+997 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157865821 | A | AAGATAGA others(1): Show |
23 | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0093 others(20): Show |
23 | HG00558.hp1 HG00735.hp2 HG01168.hp2 others(20): Show |
intron_variant | MODIFIER | c.-183+9967_-183+997 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157865821 | A | AAGATAGA others(5): Show |
8 | a0001c0001t0001g0115 a0001c0001t0002g0046 a0001c0001t0002g0086 others(5): Show |
8 | HG03486.hp1 HG03491.hp1 HG03492.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+9963_-183+997 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157865821 | A | AAGATAGA others(9): Show |
3 | a0001c0001t0001g0041 a0001c0002t0001g0033 a0001c0002t0020g0163 |
3 | HG01255.hp1 HG02647.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-183+9959_-183+997 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157865821 | AAGAT | A | 17 | a0001c0001t0001g0131 a0001c0001t0002g0129 a0001c0001t0002g0154 others(14): Show |
17 | HG00438.hp1 HG02145.hp2 HG02155.hp2 others(14): Show |
intron_variant | MODIFIER | c.-183+9971_-183+997 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157865821 | AAGATAGA others(1): Show |
A | 8 | a0001c0002t0001g0134 a0001c0002t0003g0094 a0001c0002t0003g0096 others(5): Show |
8 | HG01884.hp2 HG01891.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-183+9967_-183+997 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865821 | |||||||
| chr2:157866349 | G | C | 76 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(73): Show |
76 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.-183+9447C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866349 | |||||||
| chr2:157866387 | C | T | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+9409G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866387 | |||||||
| chr2:157866444 | C | CGG | 13 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 others(10): Show |
13 | HG01169.hp2 HG02080.hp2 HG02135.hp1 others(10): Show |
intron_variant | MODIFIER | c.-183+9350_-183+935 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866444 | |||||||
| chr2:157866444 | C | T | 2 | a0001c0001t0001g0042 a0001c0001t0002g0043 |
2 | NA18951.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.-183+9352G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866444 | |||||||
| chr2:157866590 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+9206A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866590 | |||||||
| chr2:157866611 | G | T | 1 | a0001c0001t0001g0041 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-183+9185C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866611 | |||||||
| chr2:157866655 | T | C | 1 | a0001c0003t0001g0021 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-183+9141A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866655 | |||||||
| chr2:157866671 | A | T | 79 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 others(76): Show |
79 | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
intron_variant | MODIFIER | c.-183+9125T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866671 | |||||||
| chr2:157866698 | G | A | 54 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 others(51): Show |
54 | HG00408.hp1 HG00438.hp1 HG01169.hp2 others(51): Show |
intron_variant | MODIFIER | c.-183+9098C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866698 | |||||||
| chr2:157866870 | T | C | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+8926A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157866870 | |||||||
| chr2:157867015 | A | G | 1 | a0001c0001t0002g0105 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-183+8781T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867015 | |||||||
| chr2:157867018 | T | G | 2 | a0001c0001t0001g0082 a0001c0004t0009g0083 |
2 | HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-183+8778A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867018 | |||||||
| chr2:157867440 | A | T | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+8356T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867440 | |||||||
| chr2:157867585 | G | A | 1 | a0001c0001t0012g0011 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.-183+8211C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867585 | |||||||
| chr2:157867631 | A | G | 1 | a0001c0002t0020g0163 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-183+8165T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867631 | |||||||
| chr2:157867679 | GT | G | 152 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(149): Show |
152 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(149): Show |
intron_variant | MODIFIER | c.-183+8116delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867679 | |||||||
| chr2:157867679 | GTT | G | 12 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(9): Show |
12 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.-183+8115_-183+811 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867679 | |||||||
| chr2:157867682 | T | G | 2 | a0001c0006t0006g0102 a0001c0006t0006g0103 |
2 | NA19240.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-183+8114A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867682 | |||||||
| chr2:157867842 | C | T | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+7954G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867842 | |||||||
| chr2:157868004 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+7792A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868004 | |||||||
| chr2:157868040 | T | G | 12 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show |
12 | HG00735.hp1 HG02004.hp1 HG02922.hp1 others(9): Show |
intron_variant | MODIFIER | c.-183+7756A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868040 | |||||||
| chr2:157868083 | A | G | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+7713T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868083 | |||||||
| chr2:157868117 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-183+7679G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868117 | |||||||
| chr2:157868244 | G | A | 6 | a0001c0002t0001g0142 a0001c0002t0011g0009 a0001c0002t0011g0010 others(3): Show |
6 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.-183+7552C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868244 | |||||||
| chr2:157868434 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-183+7362C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868434 | |||||||
| chr2:157868441 | C | T | 51 | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(48): Show |
51 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.-183+7355G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868441 | |||||||
| chr2:157868442 | G | A | 12 | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show |
12 | HG00735.hp1 HG02004.hp1 HG02922.hp1 others(9): Show |
intron_variant | MODIFIER | c.-183+7354C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868442 | |||||||
| chr2:157868484 | CA | C | 135 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(132): Show |
135 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(132): Show |
intron_variant | MODIFIER | c.-183+7311delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868484 | |||||||
| chr2:157868484 | CAA | C | 21 | a0001c0001t0002g0097 a0001c0002t0001g0024 a0001c0002t0001g0036 others(18): Show |
21 | HG01074.hp1 HG01261.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.-183+7310_-183+731 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868484 | |||||||
| chr2:157868500 | A | G | 1 | a0001c0002t0003g0158 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-183+7296T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868500 | |||||||
| chr2:157868504 | G | GC | 5 | a0001c0002t0005g0001 a0001c0002t0005g0006 a0001c0002t0010g0008 others(2): Show |
5 | HG01074.hp1 HG02055.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+7291dupG | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868504 | |||||||
| chr2:157868640 | T | C | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-183+7156A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868640 | |||||||
| chr2:157868745 | A | G | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+7051T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868745 | |||||||
| chr2:157868958 | A | T | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(1): Show |
4 | HG02647.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+6838T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868958 | |||||||
| chr2:157869526 | A | G | 2 | a0001c0002t0001g0037 a0001c0002t0001g0038 |
2 | HG02976.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-183+6270T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157869526 | |||||||
| chr2:157869765 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+6031A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157869765 | |||||||
| chr2:157870043 | C | T | 61 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(58): Show |
61 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.-183+5753G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870043 | |||||||
| chr2:157870072 | T | G | 3 | a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0015g0095 |
3 | HG02897.hp1 HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-183+5724A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870072 | |||||||
| chr2:157870168 | C | T | 5 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(2): Show |
5 | HG02145.hp2 HG02257.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+5628G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870168 | |||||||
| chr2:157870187 | T | C | 3 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 |
3 | HG02145.hp2 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.-183+5609A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870187 | |||||||
| chr2:157870206 | C | T | 8 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(5): Show |
8 | HG02486.hp1 HG02559.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.-183+5590G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870206 | |||||||
| chr2:157870271 | A | AT | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+5524dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870271 | |||||||
| chr2:157870314 | G | A | 7 | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183+5482C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870314 | |||||||
| chr2:157870330 | A | G | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.-183+5466T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870330 | |||||||
| chr2:157870384 | A | G | 71 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(68): Show |
71 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.-183+5412T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870384 | |||||||
| chr2:157870432 | A | G | 1 | a0001c0002t0005g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-183+5364T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870432 | |||||||
| chr2:157870673 | C | T | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-183+5123G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870673 | |||||||
| chr2:157870710 | C | G | 1 | a0001c0001t0004g0164 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-183+5086G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870710 | |||||||
| chr2:157870894 | C | T | 1 | a0001c0005t0001g0157 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-183+4902G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870894 | |||||||
| chr2:157871429 | G | A | 1 | a0001c0002t0002g0147 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-183+4367C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871429 | |||||||
| chr2:157871766 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+4030A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871766 | |||||||
| chr2:157871766 | T | G | 5 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(2): Show |
5 | HG02145.hp2 HG02257.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183+4030A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871766 | |||||||
| chr2:157871821 | G | A | 5 | a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0004t0009g0161 others(2): Show |
5 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183+3975C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871821 | |||||||
| chr2:157871901 | C | G | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+3895G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871901 | |||||||
| chr2:157871915 | C | T | 4 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(1): Show |
4 | HG02486.hp1 HG02559.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+3881G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157871915 | |||||||
| chr2:157872270 | C | A | 1 | a0001c0006t0006g0022 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-183+3526G>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872270 | |||||||
| chr2:157872319 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+3477A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872319 | |||||||
| chr2:157872356 | T | C | 2 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-183+3440A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872356 | |||||||
| chr2:157872515 | C | T | 2 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.-183+3281G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872515 | |||||||
| chr2:157872570 | G | A | 1 | a0001c0001t0002g0151 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-183+3226C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872570 | |||||||
| chr2:157872656 | G | A | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+3140C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872656 | |||||||
| chr2:157872660 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+3136A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872660 | |||||||
| chr2:157872664 | T | C | 1 | a0001c0001t0016g0152 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-183+3132A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872664 | |||||||
| chr2:157872974 | A | G | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+2822T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872974 | |||||||
| chr2:157872998 | A | T | 1 | a0001c0002t0001g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-183+2798T>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157872998 | |||||||
| chr2:157873146 | T | C | 1 | a0001c0001t0002g0153 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-183+2650A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873146 | |||||||
| chr2:157873172 | A | G | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(1): Show |
4 | HG02647.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+2624T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873172 | |||||||
| chr2:157873181 | A | G | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+2615T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873181 | |||||||
| chr2:157873280 | C | T | 1 | a0001c0002t0001g0033 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-183+2516G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873280 | |||||||
| chr2:157873399 | A | C | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(1): Show |
4 | HG02647.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-183+2397T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873399 | |||||||
| chr2:157873708 | A | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+2088T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873708 | |||||||
| chr2:157873957 | C | G | 4 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 others(1): Show |
4 | HG02486.hp1 HG02559.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183+1839G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157873957 | |||||||
| chr2:157874230 | A | G | 1 | a0001c0002t0001g0028 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-183+1566T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157874230 | |||||||
| chr2:157874259 | G | C | 2 | a0001c0002t0001g0024 a0001c0003t0001g0023 |
2 | HG02622.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-183+1537C>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157874259 | |||||||
| chr2:157874441 | G | A | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+1355C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157874441 | |||||||
| chr2:157874816 | C | G | 3 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 |
3 | HG02145.hp2 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.-183+980G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157874816 | |||||||
| chr2:157874877 | T | C | 1 | a0001c0001t0002g0154 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-183+919A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157874877 | |||||||
| chr2:157875250 | T | C | 1 | a0001c0002t0003g0155 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-183+546A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157875250 | |||||||
| chr2:157875349 | G | A | 9 | a0001c0002t0003g0156 a0001c0002t0004g0169 a0001c0002t0004g0170 others(6): Show |
9 | HG02922.hp1 HG02965.hp2 HG03195.hp2 others(6): Show |
intron_variant | MODIFIER | c.-183+447C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157875349 | |||||||
| chr2:157875488 | AAC | A | 148 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(145): Show |
148 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.-183+306_-183+307d others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157875488 | |||||||
| chr2:157875488 | AACAC | A | 6 | a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0004t0009g0161 others(3): Show |
6 | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-183+304_-183+307d others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157875488 | |||||||
| chr2:157875721 | C | T | 1 | a0001c0001t0002g0013 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-183+75G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157875721 |