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 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 509 | 174 | 78 | 18 | 50 | 6 | 20 | 30 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/1 | 1530 | 71 | 5 | 11 | 40 | 5 | 9 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
c0002 | 0/0 | 1530 | 67 | 44 | 5 | 7 | 1 | 10 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
c0003 | 1/0 | 1530 | 16 | 14 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
c0004 | 0/0 | 1530 | 7 | 7 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
c0005 | 0/0 | 1530 | 7 | 2 | 2 | 3 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
c0006 | 0/0 | 1530 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 1803 | 68 | 37 | 5 | 17 | 1 | 8 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0002 | 1/1 | 1803 | 48 | 2 | 7 | 27 | 3 | 7 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0003 | 0/0 | 1803 | 13 | 12 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0004 | 0/0 | 1809 | 8 | 5 | 1 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0005 | 0/0 | 1803 | 6 | 2 | 1 | 0 | 0 | 3 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0006 | 0/0 | 1803 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0007 | 0/0 | 1803 | 3 | 1 | 0 | 0 | 2 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0008 | 0/0 | 1803 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0009 | 0/0 | 1803 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0010 | 0/0 | 1803 | 2 | 0 | 2 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0011 | 0/0 | 1803 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0012 | 0/0 | 1813 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0013 | 0/0 | 1809 | 2 | 0 | 1 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0014 | 0/0 | 1803 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0015 | 0/0 | 1803 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0016 | 0/0 | 1803 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0017 | 0/0 | 1803 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0018 | 0/0 | 1803 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0019 | 0/0 | 1803 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0020 | 0/0 | 1809 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
t0021 | 0/0 | 1809 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0018 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0077 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0141 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 1530 | 71 | 5 | 11 | 40 | 5 | 9 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002 | 0/0 | 1530 | 67 | 44 | 5 | 7 | 1 | 10 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003 | 1/0 | 1530 | 16 | 14 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0004 | 0/0 | 1530 | 7 | 7 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0005 | 0/0 | 1530 | 7 | 2 | 2 | 3 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0006 | 0/0 | 1530 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | 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 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0002 | 0/1 | 3332 | 39 | 2 | 6 | 23 | 3 | 4 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0004 | 0/0 | 3338 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0007 | 0/0 | 3332 | 2 | 0 | 0 | 0 | 2 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0010 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0012 | 0/0 | 3342 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0013 | 0/0 | 3338 | 2 | 0 | 1 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0014 | 0/0 | 3332 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0001t0016 | 0/0 | 3332 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0001 | 0/0 | 3332 | 33 | 24 | 2 | 1 | 1 | 5 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0002 | 0/0 | 3332 | 8 | 0 | 1 | 4 | 0 | 3 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0003 | 0/0 | 3332 | 11 | 10 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0004 | 0/0 | 3338 | 4 | 3 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0005 | 0/0 | 3332 | 3 | 1 | 0 | 0 | 0 | 2 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0007 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0010 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0011 | 0/0 | 3332 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0015 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0017 | 0/0 | 3332 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0018 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0002t0020 | 0/0 | 3338 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0001 | 0/0 | 3332 | 9 | 9 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0002 | 1/0 | 3332 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0003 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0004 | 0/0 | 3338 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0005 | 0/0 | 3332 | 2 | 1 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0003t0019 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0004t0008 | 0/0 | 3332 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0004t0009 | 0/0 | 3332 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0004t0021 | 0/0 | 3338 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0005t0001 | 0/0 | 3332 | 4 | 1 | 1 | 2 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0005t0003 | 0/0 | 3332 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0005t0004 | 0/0 | 3338 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0005t0005 | 0/0 | 3332 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
a0001c0006t0006 | 0/0 | 3332 | 6 | 6 | 0 | 0 | 0 | 0 | ACVR1_chr2_157731446_157881330 | ACVR1 | copy fasta | chr2 | 157731446 | 157881330 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
a0001c0001t0001g0052 | 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 |
a0001c0001t0002g0051 | 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 |
a0001c0001t0002g0060 | 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 |
a0001c0001t0002g0073 | 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 |
a0001c0001t0002g0077 | 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 |
a0001c0001t0007g0076 | 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 |
a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
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 | 0 | 0 | 0 | 1 | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
a0001c0002t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | 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 |
a0001c0002t0002g0075 | 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 |
a0001c0002t0003g0095 | 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 |
a0001c0002t0015g0096 | 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 |
a0001c0005t0001g0072 | 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 | g0065 | 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 | g0073 | 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 | g0051 | 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 | g0091 | 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 | g0090 | 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 | g0034 | 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 | g0150 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
HG02897 | hp1 | a0001 | c0002 | t0003 | g0094 | AFR | GWD | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
HG02897 | hp2 | a0001 | c0002 | t0001 | g0149 | 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 | g0035 | 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 | g0162 | 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 | g0060 | 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 | g0095 | 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 | g0058 | SAS | PJL | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0052 | 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 | g0161 | 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 | g0072 | 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 | g0075 | 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 | g0096 | 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 | g0068 | 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 | g0076 | EUR | TSI | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
NA20805 | hp1 | a0001 | c0001 | t0002 | g0077 | 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 | g0059 | 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 | hp1 | a0001 | c0001 | t0002 | g0141 | REF | REF | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
homoSapiens_grch38 | hp1 | a0001 | c0003 | t0002 | g0018 | REF | REF | ACVR1_chr2_157731446_157881330 | ACVR1 | chr2 | 157731446 | 157881330 |
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 |
---|
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 | a0001c0001a0001c0002a0001c0004others(1): Show | 151 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): 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 | a0001c0001a0001c0005 | 78 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(75): 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 |
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 | a0001c0004t0008a0001c0004t0009a0001c0004t0021 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(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 | a0001c0001t0007a0001c0002t0007 | 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 | a0001c0002t0003a0001c0002t0015a0001c0002t0020others(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 | a0001c0001t0010a0001c0002t0005a0001c0002t0010others(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 | a0001c0001t0004a0001c0001t0013a0001c0002t0004others(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 |
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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(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 | a0001c0001t0002g0080a0001c0001t0013g0165 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0032a0001c0002t0001g0107 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0004g0164others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0002g0074a0001c0001t0002g0126a0001c0002t0002g0044 | 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 | a0001c0002t0001g0032a0001c0002t0001g0107 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0052 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0004t0008g0030a0001c0004t0009g0083a0001c0004t0009g0161others(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 | a0001c0002t0001g0031a0001c0002t0001g0100a0001c0002t0004g0169others(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 | a0001c0002t0001g0058a0001c0002t0001g0059 | 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 | a0001c0002t0001g0036a0001c0002t0001g0099a0001c0002t0003g0015others(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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0002g0043a0001c0001t0002g0097 | 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0003t0001g0023a0001c0003t0004g0167a0001c0005t0001g0157 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0003t0001g0023a0001c0005t0001g0157 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0002g0061a0001c0002t0002g0075a0001c0004t0008g0030others(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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0025others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0047others(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 | a0001c0001t0002g0060 | 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 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0001t0002g0043a0001c0001t0002g0097 | 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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0002g0046a0001c0001t0002g0068 | 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 | a0001c0001t0002g0046a0001c0001t0002g0068 | 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 | a0001c0001t0002g0129a0001c0001t0012g0011 | 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 | a0001c0002t0018g0148a0001c0002t0020g0163 | 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 | a0001c0002t0001g0124a0001c0002t0004g0172 | 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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150others(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 | a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0002t0001g0026a0001c0002t0001g0034a0001c0002t0001g0035 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0058a0001c0002t0001g0059 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0001t0002g0046a0001c0001t0002g0068 | 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 | a0001c0001t0002g0051a0001c0001t0002g0060a0001c0001t0002g0062others(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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0002t0001g0024others(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 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0001t0002g0074a0001c0001t0002g0126a0001c0002t0002g0044 | 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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0025others(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 | a0001c0003t0001g0104a0001c0003t0004g0167a0001c0005t0001g0157 | 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 | a0001c0002t0001g0036a0001c0002t0001g0099a0001c0002t0003g0015others(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 | a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0001t0002g0077 | 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 | a0001c0001t0001g0114a0001c0001t0002g0039a0001c0001t0012g0012others(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 | a0001c0001t0004g0164a0001c0003t0001g0104a0001c0003t0003g0144others(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 | a0001c0005t0001g0064a0001c0005t0001g0123a0001c0005t0005g0004 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0002t0001g0124others(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 | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0052others(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 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0001g0114others(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 | a0001c0004t0008g0030a0001c0004t0009g0083a0001c0004t0009g0161others(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 | a0001c0001t0001g0052 | 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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0001t0002g0067a0001c0001t0002g0153 | 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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0002t0002g0061a0001c0002t0002g0075 | 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 | a0001c0001t0007g0076 | 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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0003t0001g0136a0001c0003t0005g0007a0001c0005t0001g0064others(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 | a0001c0003t0001g0136a0001c0003t0005g0007a0001c0005t0001g0064others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0003t0001g0104a0001c0003t0004g0167 | 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 | a0001c0001t0001g0114a0001c0003t0001g0136a0001c0003t0005g0007others(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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0006t0006g0102a0001c0006t0006g0103 | 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 | a0001c0002t0002g0084a0001c0002t0002g0085 | 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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0003t0001g0014a0001c0003t0001g0016a0001c0003t0001g0019others(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 | a0001c0003t0001g0136a0001c0003t0005g0007a0001c0005t0001g0064others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0002t0002g0084a0001c0002t0002g0085 | 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 | a0001c0001t0001g0114a0001c0003t0001g0136a0001c0003t0005g0007others(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 | a0001c0001t0002g0048a0001c0002t0007g0063a0001c0002t0010g0008 | 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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0003t0001g0014a0001c0003t0001g0019a0001c0003t0001g0021others(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 | a0001c0001t0001g0088a0001c0001t0001g0114a0001c0001t0002g0092others(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 | a0001c0004t0008g0030a0001c0004t0008g0110a0001c0004t0008g0111others(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 | a0001c0003t0001g0023a0001c0005t0001g0157 | 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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0025others(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 | a0001c0004t0008g0110a0001c0004t0008g0111 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0003t0001g0023a0001c0003t0001g0136a0001c0003t0004g0167others(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 | a0001c0001t0002g0080a0001c0001t0013g0165 | 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 | a0001c0003t0001g0023a0001c0003t0001g0136a0001c0003t0004g0167others(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 | a0001c0001t0001g0109a0001c0001t0001g0127 | 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 | a0001c0002t0001g0036a0001c0002t0001g0099a0001c0002t0003g0015others(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 | a0001c0001t0002g0077 | 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 | a0001c0003t0001g0023a0001c0003t0001g0136a0001c0003t0003g0144others(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 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0047others(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 | a0001c0004t0008g0030a0001c0004t0009g0083a0001c0004t0009g0161others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0003t0001g0023a0001c0003t0001g0136a0001c0003t0003g0144others(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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0004g0164others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0002t0001g0090 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0001t0001g0020a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0003t0001g0023a0001c0003t0001g0136a0001c0003t0003g0144others(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 | a0001c0002t0001g0026a0001c0002t0001g0029a0001c0002t0001g0033others(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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0001t0002g0068 | 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 | a0001c0001t0002g0049a0001c0001t0002g0070 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | 145 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(142): Show | 145 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(142): 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | 147 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(144): Show | 147 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(144): 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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | 149 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(146): Show | 149 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(146): 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(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 | a0001c0006t0006g0022a0001c0006t0006g0102a0001c0006t0006g0103others(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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0002t0001g0145a0001c0002t0003g0159a0001c0002t0005g0002 | 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 | a0001c0001t0002g0073 | 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 | a0001c0003t0003g0144a0001c0005t0003g0138 | 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 | a0001c0003t0001g0023a0001c0003t0001g0104a0001c0003t0004g0167others(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 | a0001c0003t0001g0019a0001c0006t0006g0022a0001c0006t0006g0102others(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 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0004g0164others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0003t0001g0136a0001c0003t0005g0007a0001c0005t0001g0064others(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 | a0001c0004t0008g0110a0001c0004t0008g0111 | 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 | a0001c0001t0002g0070a0001c0002t0001g0024a0001c0002t0001g0025others(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 | a0001c0001t0001g0020a0001c0001t0001g0042a0001c0001t0001g0047others(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 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0057others(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 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0002g0045others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | 148 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): 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 | 146 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(143): Show | 146 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.543+1232T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157776899 | ||||||
chr2:157777293
|
G | A | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.543+838C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | 157777293 | ||||||
chr2:157777369
|
T | A | 72 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(69): Show | 72 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(69): 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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(138): 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 | 117 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(114): Show | 117 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(114): 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0158 | 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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0099others(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 | 137 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): Show |
intron_variant | MODIFIER | c.331+965G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779372 | ||||||
chr2:157779653
|
G | A | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): 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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.331+529G>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779808 | ||||||
chr2:157779829
|
A | G | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.331+508T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4/10 | chr2 | 157779829 | ||||||
chr2:157779998
|
T | C | 138 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(135): 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 | a0001c0001t0012g0012a0001c0002t0001g0028a0001c0002t0001g0031others(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 | 119 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(116): Show | 119 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(116): 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 | a0001c0001t0012g0012a0001c0002t0001g0031a0001c0002t0001g0099others(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 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0002g0045 | 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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0099others(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 | a0001c0002t0001g0149a0001c0002t0001g0150a0001c0002t0011g0009others(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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026others(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 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | 84 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(81): Show | 84 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(81): Show |
intron_variant | MODIFIER | c.68-1155A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157781755 | ||||||
chr2:157781929
|
A | C | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0047others(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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.68-1433A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782033 | ||||||
chr2:157782520
|
T | C | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.68-1920A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157782520 | ||||||
chr2:157782728
|
T | C | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0125a0001c0002t0001g0145a0001c0005t0001g0157 | 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 | a0001c0002t0001g0033a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.68-3187A>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157783787 | ||||||
chr2:157783788
|
C | A | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | 135 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(132): Show | 135 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(132): 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 | a0001c0001t0002g0077 | 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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0002t0001g0033a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | a0001c0002t0001g0036a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | 77 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(74): Show | 77 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): 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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | 137 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): 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 | a0001c0003t0001g0019a0001c0004t0008g0030a0001c0006t0006g0102others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | 92 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(89): Show | 92 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.68-8007T>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157788607 | ||||||
chr2:157788704
|
A | G | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(138): 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0001t0001g0047a0001c0001t0001g0057a0001c0001t0001g0088others(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 | a0001c0003t0001g0019a0001c0003t0001g0023a0001c0004t0008g0030others(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 | a0001c0002t0003g0015a0001c0002t0003g0130a0001c0002t0003g0156 | 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 | a0001c0002t0001g0032a0001c0002t0005g0002 | 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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.68-8716A>G | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789316 | ||||||
chr2:157789913
|
A | G | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.68-9313T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157789913 | ||||||
chr2:157790184
|
G | A | 122 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(119): Show | 122 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
intron_variant | MODIFIER | c.67+9243C>T | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157790184 | ||||||
chr2:157790226
|
G | A | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0001g0031a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0005t0001g0157a0001c0005t0003g0138 | 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 | a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0002t0015g0096 | 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 | a0001c0001t0001g0020a0001c0002t0001g0031a0001c0003t0001g0019others(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 | a0001c0001t0001g0020a0001c0002t0001g0029a0001c0002t0001g0031others(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 | 168 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(165): Show | 168 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(165): 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 | a0001c0005t0001g0064a0001c0005t0005g0004 | 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 | a0001c0002t0002g0084a0001c0002t0002g0085 | 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 | a0001c0002t0001g0033a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0001t0001g0020a0001c0005t0001g0157 | 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 | a0001c0002t0001g0125a0001c0002t0001g0145a0001c0003t0019g0143 | 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 | a0001c0001t0001g0020a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0001g0058a0001c0002t0001g0059 | 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 | a0001c0001t0002g0065 | 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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | 171 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(168): Show | 171 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(168): 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 | a0001c0001t0001g0020a0001c0002t0001g0025a0001c0002t0005g0006others(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 | a0001c0002t0001g0100a0001c0002t0001g0134a0001c0002t0001g0149others(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 | a0001c0002t0001g0027a0001c0002t0001g0028a0001c0002t0001g0037others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0131others(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 | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0056others(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 | 55 | a0001c0001t0001g0042a0001c0001t0001g0047a0001c0001t0001g0079others(52): Show | 55 | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(52): 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 | a0001c0001t0001g0115a0001c0002t0001g0029a0001c0002t0001g0125others(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 | a0001c0001t0001g0057a0001c0001t0001g0088a0001c0001t0002g0060others(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 | a0001c0001t0002g0081a0001c0001t0002g0118 | 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | 80 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(77): Show | 80 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.67+3205dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | 157796221 | ||||||
chr2:157796459
|
T | C | 21 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164 | 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 | 135 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(132): Show | 135 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(132): 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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0002t0001g0124a0001c0002t0002g0132a0001c0002t0004g0172 | 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 | 140 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0002t0001g0032a0001c0002t0005g0002 | 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 | a0001c0001t0002g0078a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0001t0002g0128a0001c0001t0002g0151 | 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0002g0045others(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 | a0001c0001t0001g0020a0001c0001t0001g0082a0001c0001t0001g0131others(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 | 109 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(106): Show | 109 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(106): 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 | 116 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(113): Show | 116 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.-7-989delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157800488 | ||||||
chr2:157800912
|
A | C | 10 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0001t0002g0065 | 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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0003g0015others(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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0003t0001g0014a0001c0003t0001g0021a0001c0003t0001g0139 | 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 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | a0001c0001t0001g0114a0001c0001t0002g0119a0001c0005t0001g0072others(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 | a0001c0002t0001g0032a0001c0002t0001g0033a0001c0002t0001g0037others(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 | a0001c0001t0001g0057a0001c0001t0001g0114a0001c0001t0002g0065others(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 | a0001c0002t0002g0061a0001c0002t0002g0075 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0001t0002g0053a0001c0001t0002g0069 | 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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0003g0015others(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 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0002t0001g0032a0001c0002t0005g0002 | 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 | 75 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(72): 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164others(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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0002t0003g0015a0001c0002t0003g0130a0001c0002t0003g0156 | 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 | a0001c0001t0002g0077 | 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0001t0002g0013a0001c0001t0010g0003 | 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 | a0001c0002t0001g0029a0001c0002t0001g0033a0001c0002t0001g0034others(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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0001t0001g0047a0001c0001t0001g0106 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0004g0164 | 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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026others(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 | a0001c0001t0001g0079a0001c0001t0001g0116a0001c0001t0002g0043others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | 35 | a0001c0001t0001g0057a0001c0001t0001g0082a0001c0001t0001g0106others(32): Show | 35 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(32): 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 | 79 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(76): Show | 79 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): 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 | 77 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(74): Show | 77 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.-7-9380dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157808879 | ||||||
chr2:157808879
|
TA | T | 7 | a0001c0002t0001g0125a0001c0002t0001g0145a0001c0002t0002g0044others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0134others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0001t0002g0060 | 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | 87 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(84): 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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027others(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 | 81 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.-8+7224delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157811160 | ||||||
chr2:157811803
|
CAACAAA | C | 22 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(138): 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | 84 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(81): Show | 84 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(81): 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 | a0001c0006t0006g0102a0001c0006t0006g0103 | 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 | 83 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(80): Show | 83 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(80): 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0001t0002g0129a0001c0002t0001g0066a0001c0002t0001g0124others(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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0029others(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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0001g0024a0001c0002t0001g0107a0001c0002t0001g0125others(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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0107others(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 | a0001c0001t0001g0088a0001c0001t0001g0115a0001c0001t0001g0116 | 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 | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(138): 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | 53 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0054others(50): Show | 53 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(50): 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 | a0001c0002t0001g0037a0001c0002t0001g0038 | 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 | a0001c0002t0007g0063a0001c0003t0019g0143 | 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 | a0001c0002t0004g0169a0001c0002t0004g0170a0001c0002t0018g0148others(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 | a0001c0001t0001g0057a0001c0001t0002g0065a0001c0001t0002g0097others(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 | a0001c0002t0001g0036a0001c0002t0001g0142a0001c0003t0001g0071others(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 | a0001c0001t0001g0020a0001c0002t0001g0024a0001c0002t0001g0029others(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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0098others(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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0001t0001g0040a0001c0001t0001g0047a0001c0001t0001g0052others(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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0002t0001g0032a0001c0002t0003g0015a0001c0002t0003g0017others(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 | 158 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(155): Show | 158 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.-8+490T>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157817895 | ||||||
chr2:157818001
|
C | CA | 78 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(75): Show | 78 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.-8+383dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | 157818001 | ||||||
chr2:157818061
|
G | C | 19 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | 133 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(130): Show | 133 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(130): 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 | a0001c0002t0003g0094 | 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 | a0001c0001t0001g0020a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0001t0002g0154a0001c0002t0001g0098a0001c0002t0001g0099others(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 | 141 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(138): 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 | a0001c0001t0002g0129a0001c0001t0007g0112a0001c0002t0001g0024others(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 | a0001c0001t0001g0020a0001c0001t0001g0047a0001c0001t0001g0056others(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 | 86 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(83): 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0004g0169a0001c0002t0004g0170a0001c0002t0018g0148others(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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0001t0012g0012a0001c0002t0001g0025a0001c0002t0001g0037others(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 | 132 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(129): 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0001t0002g0154a0001c0002t0001g0029a0001c0002t0001g0031others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0033others(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 | a0001c0001t0002g0046a0001c0001t0002g0068 | 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 | a0001c0005t0001g0072 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0002g0154others(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 | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026others(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 | 75 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(72): 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0001t0002g0154a0001c0002t0001g0098a0001c0002t0001g0099others(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 | a0001c0001t0002g0068 | 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 | 139 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0002t0001g0033others(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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0037a0001c0002t0001g0038 | 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 | a0001c0002t0001g0031a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0001g0031a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0001g0031a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0001g0031a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0001t0001g0020a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0001g0031a0001c0003t0001g0019a0001c0004t0008g0030others(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 | a0001c0002t0001g0101a0001c0002t0001g0134a0001c0002t0004g0173 | 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 | a0001c0001t0002g0065a0001c0001t0004g0164a0001c0002t0001g0032others(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 | a0001c0001t0001g0114a0001c0001t0002g0046a0001c0001t0002g0069others(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 | 30 | a0001c0001t0001g0047a0001c0001t0001g0108a0001c0001t0001g0109others(27): Show | 30 | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(27): 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 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0054others(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 | a0001c0001t0001g0040a0001c0001t0001g0056a0001c0001t0001g0079others(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 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0002g0050others(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 | a0001c0001t0001g0020a0001c0001t0002g0129a0001c0001t0002g0154others(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 | a0001c0001t0002g0077a0001c0002t0001g0124a0001c0002t0002g0084others(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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0004g0169others(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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0003g0095a0001c0002t0003g0130a0001c0002t0003g0158others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0002t0003g0155a0001c0003t0003g0144a0001c0004t0009g0162 | 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 | a0001c0002t0001g0031a0001c0002t0004g0169a0001c0002t0004g0170others(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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0001t0001g0020a0001c0001t0001g0082a0001c0001t0001g0131others(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 | a0001c0002t0011g0009a0001c0002t0011g0010a0001c0003t0001g0023others(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 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0005g0006 | 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 | a0001c0001t0002g0013a0001c0001t0002g0078a0001c0001t0007g0076 | 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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0003t0001g0104a0001c0003t0004g0167a0001c0005t0003g0138 | 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 | a0001c0002t0004g0169a0001c0002t0004g0170a0001c0002t0018g0148others(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 | a0001c0001t0002g0154a0001c0001t0012g0011a0001c0002t0001g0029others(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 | 98 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(95): Show | 98 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(95): 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 | a0001c0001t0001g0047a0001c0001t0002g0077a0001c0002t0003g0017others(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 | a0001c0001t0001g0020a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0001t0002g0154a0001c0002t0001g0029a0001c0002t0001g0031others(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 | 79 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(76): Show | 79 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.-182-10266C>A | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157828825 | ||||||
chr2:157828828
|
A | G | 129 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(126): 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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0003t0001g0136a0001c0003t0005g0007 | 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0033a0001c0003t0019g0143 | 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 | a0001c0001t0002g0067a0001c0001t0002g0153 | 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 | a0001c0001t0007g0112a0001c0002t0002g0147 | 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 | a0001c0001t0001g0106a0001c0001t0002g0117a0001c0001t0012g0012others(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 | a0001c0001t0002g0154a0001c0002t0001g0098a0001c0002t0001g0099others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | 124 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(121): Show | 124 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.-182-12175delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157830733 | ||||||
chr2:157830733
|
CAAA | C | 5 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(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 | a0001c0001t0001g0127a0001c0001t0002g0119a0001c0005t0001g0123 | 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 | a0001c0002t0001g0035 | 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 | a0001c0002t0001g0029a0001c0005t0001g0157 | 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 | a0001c0001t0001g0082a0001c0001t0001g0131 | 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 | a0001c0002t0003g0133a0001c0002t0003g0135a0001c0002t0003g0155others(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 | a0001c0003t0001g0104a0001c0003t0004g0167a0001c0005t0003g0138 | 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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0002t0001g0149others(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 | a0001c0001t0002g0154a0001c0002t0001g0098a0001c0002t0001g0099others(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 | a0001c0002t0001g0032a0001c0002t0005g0002a0001c0002t0007g0063 | 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0001t0001g0020a0001c0002t0001g0125a0001c0002t0001g0145 | 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(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 | a0001c0002t0001g0091 | 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 | a0001c0002t0015g0096 | 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 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0114 | 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 | a0001c0002t0015g0096 | 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 | 90 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(87): Show | 90 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(87): 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 | a0001c0002t0004g0169a0001c0002t0004g0170a0001c0002t0018g0148others(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 | a0001c0001t0001g0020a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0002t0001g0036a0001c0003t0001g0071a0001c0003t0005g0005 | 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 | a0001c0001t0001g0040a0001c0001t0001g0047a0001c0001t0001g0052others(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 | a0001c0001t0002g0077a0001c0001t0007g0076 | 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 | 88 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(85): Show | 88 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(85): 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0032a0001c0002t0001g0033a0001c0002t0001g0034others(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 | a0001c0001t0002g0051 | 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 | 75 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(72): 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 | a0001c0002t0003g0015a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0004t0008g0110a0001c0004t0008g0111a0001c0006t0006g0140 | 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 | 76 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(73): Show | 76 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(73): 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 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0001t0002g0065others(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 | a0001c0001t0001g0088a0001c0001t0002g0120a0001c0002t0001g0029others(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 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0034others(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 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0014g0087 | 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 | 140 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): 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 | a0001c0001t0001g0040a0001c0001t0001g0052a0001c0001t0001g0056others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0002g0045 | 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0024a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027 | 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 | a0001c0001t0001g0115a0001c0001t0001g0116 | 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0003g0094a0001c0002t0003g0095a0001c0002t0015g0096others(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 | a0001c0001t0002g0086a0001c0001t0002g0154a0001c0001t0004g0164others(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 | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0002t0001g0149others(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 | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0047others(56): Show | 59 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(56): 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 | 169 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(166): Show | 169 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(166): 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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0002t0001g0145others(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 | a0001c0005t0001g0072 | 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 | 126 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.-182-23468dupT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157842026 | ||||||
chr2:157842026
|
C | CAA | 13 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0002t0001g0145others(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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0007g0076 | 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 | a0001c0002t0001g0024a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0002t0001g0149others(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 | a0001c0001t0001g0040a0001c0001t0001g0052a0001c0001t0001g0056others(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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0002g0060 | 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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0002t0001g0145others(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 | a0001c0002t0003g0155a0001c0003t0001g0136 | 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 | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0002t0001g0149others(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 | a0001c0004t0009g0162 | 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0002g0080a0001c0002t0001g0145a0001c0002t0003g0094others(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 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0002g0129 | 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0001g0020a0001c0002t0003g0155a0001c0002t0018g0148others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027others(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 | a0001c0002t0001g0145a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0002t0003g0155a0001c0003t0001g0136 | 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 | 2 | a0001c0001t0002g0055a0001c0001t0002g0141 | 2 | HG01243.hp1 homoSapiens_chm13v2.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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(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 | 167 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(164): 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0002t0002g0084a0001c0002t0002g0085 | 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 | a0001c0002t0001g0145a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0003t0001g0023 | 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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0003t0001g0023 | 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0002t0001g0145a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0001t0001g0115a0001c0001t0002g0050 | 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 | a0001c0001t0002g0129a0001c0003t0005g0007 | 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 | a0001c0001t0001g0082a0001c0002t0001g0107a0001c0004t0008g0110others(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 | a0001c0001t0001g0054a0001c0001t0001g0088a0001c0001t0001g0106others(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 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(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 | 50 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0047others(47): Show | 50 | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(47): 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 | a0001c0001t0001g0041a0001c0001t0001g0079a0001c0001t0001g0127others(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 | a0001c0002t0003g0133a0001c0002t0003g0135 | 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 | a0001c0001t0001g0093a0001c0001t0001g0115a0001c0001t0002g0050others(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 | a0001c0001t0002g0078a0001c0001t0007g0076a0001c0002t0003g0017others(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 | a0001c0001t0002g0078a0001c0001t0007g0076a0001c0002t0003g0017others(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 | a0001c0002t0001g0145a0001c0002t0015g0096a0001c0003t0001g0023others(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 | ||||||
chr2:157851906
|
CA | C | 157 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0041others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(154): Show |
intron_variant | MODIFIER | c.-183+23889delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157851906 | ||||||
chr2:157851907
|
A | C | 16 | a0001c0001t0002g0078a0001c0001t0007g0076a0001c0002t0001g0145others(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 | a0001c0002t0001g0145a0001c0002t0015g0096a0001c0003t0003g0144 | 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 | a0001c0002t0001g0145a0001c0002t0003g0094a0001c0002t0003g0095others(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 | 59 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(56): Show | 59 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(56): 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0005t0001g0072 | 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 | a0001c0002t0001g0145a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0001g0020a0001c0002t0018g0148 | 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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(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 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(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 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0001g0108others(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 | a0001c0001t0001g0020a0001c0001t0002g0069a0001c0001t0002g0074others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0001t0001g0116a0001c0001t0010g0003a0001c0002t0001g0025others(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 | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0083others(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 | a0001c0001t0002g0049a0001c0001t0012g0012a0001c0003t0001g0014others(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 | a0001c0001t0001g0127a0001c0001t0002g0046a0001c0001t0002g0060others(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 | a0001c0002t0001g0029a0001c0002t0001g0035a0001c0002t0001g0036others(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 | a0001c0001t0002g0062a0001c0002t0001g0100a0001c0002t0001g0101others(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 | a0001c0001t0001g0057a0001c0001t0002g0128a0001c0002t0001g0089others(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 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0002g0129others(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 | a0001c0001t0001g0088a0001c0001t0001g0108a0001c0001t0001g0109others(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 | a0001c0001t0002g0086a0001c0001t0002g0097a0001c0001t0002g0154others(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 | a0001c0001t0001g0106a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0002t0001g0145a0001c0003t0003g0144 | 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 | a0001c0002t0001g0029a0001c0002t0001g0035a0001c0002t0001g0036others(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 | a0001c0002t0001g0034 | 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 | a0001c0001t0001g0056a0001c0001t0002g0051a0001c0002t0001g0134others(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 | a0001c0001t0001g0052 | 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 | a0001c0002t0001g0038a0001c0003t0001g0023 | 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 | a0001c0001t0001g0020a0001c0002t0001g0025a0001c0002t0001g0026others(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 | a0001c0001t0002g0129a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0001t0001g0088a0001c0001t0001g0108a0001c0001t0001g0109others(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 | a0001c0001t0001g0088a0001c0001t0001g0108a0001c0001t0001g0109others(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 | a0001c0001t0001g0040a0001c0001t0001g0057a0001c0001t0001g0082others(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 | a0001c0002t0004g0172a0001c0006t0006g0022 | 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 | a0001c0001t0001g0042a0001c0001t0002g0043a0001c0001t0002g0065others(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 | a0001c0001t0001g0040a0001c0001t0001g0057a0001c0001t0001g0082others(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 | 19 | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0054others(16): Show | 19 | HG01168.hp1 HG01255.hp1 HG02004.hp2 others(16): 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 | 52 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0047others(49): Show | 52 | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(49): 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 | a0001c0001t0001g0042a0001c0001t0002g0065a0001c0001t0002g0105others(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 | 58 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(55): Show | 58 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(55): 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 | a0001c0001t0002g0086a0001c0001t0002g0154a0001c0002t0001g0145others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(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 | a0001c0001t0001g0020a0001c0001t0001g0106a0001c0001t0001g0108others(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 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0002g0051others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0003t0001g0023 | 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 | a0001c0002t0001g0024a0001c0002t0001g0037a0001c0002t0001g0038others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | 57 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(54): Show | 57 | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(54): 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 | a0001c0001t0002g0086a0001c0001t0002g0154 | 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 | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0083others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0145a0001c0003t0003g0144 | 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 | a0001c0002t0003g0095 | 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0003t0001g0023 | 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0001t0010g0003a0001c0002t0001g0025a0001c0002t0001g0026others(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 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0001g0114others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0005t0001g0157a0001c0006t0006g0022 | 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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0002t0001g0029a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0020g0163a0001c0006t0006g0121a0001c0006t0006g0160 | 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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): 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 | a0001c0001t0010g0003a0001c0002t0001g0025a0001c0002t0001g0026others(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 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | 154 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(151): 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 | 7 | a0001c0001t0002g0141a0001c0002t0001g0142a0001c0002t0011g0009others(4): Show | 7 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(4): 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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): 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 | 157 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(154): 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | 8 | a0001c0001t0002g0141a0001c0002t0001g0142a0001c0002t0011g0009others(5): Show | 8 | HG01243.hp2 HG02055.hp2 HG02257.hp1 others(5): 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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0106others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | 95 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(92): Show | 95 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(92): 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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0106others(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 | a0001c0002t0001g0037a0001c0002t0001g0038 | 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 | a0001c0002t0001g0101a0001c0002t0001g0134a0001c0002t0003g0135others(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 | a0001c0001t0001g0020a0001c0001t0001g0115a0001c0001t0001g0116others(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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0108others(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 | a0001c0001t0001g0106a0001c0001t0001g0131a0001c0001t0001g0137others(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 | a0001c0001t0001g0114a0001c0001t0001g0127a0001c0001t0002g0118others(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 | a0001c0002t0001g0031a0001c0002t0001g0032 | 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 | a0001c0001t0001g0082a0001c0001t0002g0153a0001c0001t0016g0152others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0002t0003g0094a0001c0002t0003g0095a0001c0002t0015g0096 | 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 | 10 | a0001c0001t0002g0141a0001c0002t0001g0089a0001c0002t0001g0090others(7): Show | 10 | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(7): 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 | a0001c0002t0001g0024a0001c0003t0001g0023 | 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 | 159 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(156): Show | 159 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032 | 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 | a0001c0002t0003g0094 | 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 | a0001c0002t0003g0095 | 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 | a0001c0002t0015g0096 | 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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0106others(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 | a0001c0001t0002g0097a0001c0001t0002g0105a0001c0001t0002g0113others(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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0106others(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 | a0001c0001t0001g0056a0001c0001t0001g0114a0001c0001t0001g0116others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0001t0002g0069a0001c0001t0002g0151a0001c0001t0013g0165others(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 | 13 | a0001c0001t0002g0141a0001c0001t0004g0164a0001c0001t0013g0166others(10): Show | 13 | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(10): 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 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091 | 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 | a0001c0001t0013g0165a0001c0001t0013g0166 | 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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0033others(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 | a0001c0001t0001g0052a0001c0001t0002g0039a0001c0001t0002g0046others(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 | a0001c0001t0001g0042a0001c0001t0001g0054a0001c0001t0001g0056others(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 | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0082others(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 | a0001c0001t0001g0093a0001c0001t0002g0092a0001c0001t0002g0119others(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 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0001g0108others(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 | a0001c0001t0010g0003a0001c0002t0001g0024a0001c0002t0001g0098others(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 | a0001c0002t0001g0145a0001c0003t0003g0144 | 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 | a0001c0001t0004g0164a0001c0001t0013g0166a0001c0002t0003g0156others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0001t0012g0012a0001c0002t0001g0033a0001c0002t0001g0034others(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 | 22 | a0001c0001t0002g0141a0001c0001t0004g0164a0001c0001t0013g0165others(19): Show | 22 | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(19): Show |
intron_variant | MODIFIER | c.-183+11928delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157863867 | ||||||
chr2:157863895
|
T | C | 3 | a0001c0002t0003g0094a0001c0002t0003g0095a0001c0002t0015g0096 | 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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | 159 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(156): Show | 159 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): 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 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | a0001c0001t0001g0093a0001c0001t0001g0108a0001c0001t0001g0109others(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 | 7 | a0001c0001t0002g0141a0001c0002t0001g0142a0001c0002t0011g0009others(4): Show | 7 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(4): 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 | 159 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(156): Show | 159 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.-183+10749G>C | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865047 | ||||||
chr2:157865099
|
GA | G | 136 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(133): Show | 136 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.-183+10696delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157865099 | ||||||
chr2:157865099
|
GAA | G | 5 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0003g0156others(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 | 77 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0114others(74): Show | 77 | HG00408.hp1 HG00438.hp1 HG00735.hp1 others(74): 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 | a0001c0002t0001g0134a0001c0002t0003g0133a0001c0002t0003g0135others(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 | a0001c0002t0001g0024a0001c0003t0001g0023 | 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 | a0001c0002t0001g0025a0001c0002t0001g0026 | 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0002t0001g0024a0001c0002t0001g0098a0001c0002t0001g0099others(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 | 47 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0054others(44): Show | 47 | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(44): 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 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0093others(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 | a0001c0001t0001g0115a0001c0001t0002g0046a0001c0001t0002g0086others(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 | a0001c0001t0001g0041a0001c0002t0001g0033a0001c0002t0020g0163 | 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 | a0001c0001t0001g0131a0001c0001t0002g0129a0001c0001t0002g0154others(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 | a0001c0002t0001g0134a0001c0002t0003g0094a0001c0002t0003g0095others(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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): 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 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0114others(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 | a0001c0001t0001g0042a0001c0001t0002g0043 | 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 | 80 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0114others(77): Show | 80 | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(77): 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 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0114others(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 | a0001c0001t0001g0082a0001c0004t0009g0083 | 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 | 153 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(150): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.-183+8116delA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157867679 | ||||||
chr2:157867679
|
GTT | G | 12 | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(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 | a0001c0006t0006g0102a0001c0006t0006g0103 | 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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): 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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | 7 | a0001c0001t0002g0141a0001c0002t0001g0142a0001c0002t0011g0009others(4): Show | 7 | HG01243.hp2 HG02055.hp2 HG02258.hp2 others(4): 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 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0106others(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 | a0001c0001t0004g0164a0001c0001t0013g0165a0001c0001t0013g0166others(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 | 136 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(133): Show | 136 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.-183+7311delT | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157868484 | ||||||
chr2:157868484
|
CAA | C | 21 | a0001c0001t0002g0097a0001c0002t0001g0024a0001c0002t0001g0036others(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 | a0001c0002t0005g0001a0001c0002t0005g0006a0001c0002t0010g0008others(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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0037a0001c0002t0001g0038 | 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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0002t0003g0094a0001c0002t0003g0095a0001c0002t0015g0096 | 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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027others(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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027 | 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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): Show |
intron_variant | MODIFIER | c.-183+5524dupA | ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | 157870271 | ||||||
chr2:157870314
|
G | A | 7 | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(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 | 166 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): 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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027others(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 | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0161others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0001g0149a0001c0002t0001g0150 | 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 | a0001c0002t0011g0009a0001c0002t0011g0010 | 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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0032others(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 | a0001c0002t0001g0024a0001c0003t0001g0023 | 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 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0027 | 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 | a0001c0002t0003g0156a0001c0002t0004g0169a0001c0002t0004g0170others(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 | 149 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(146): Show | 149 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(146): 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 | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0161others(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 |