geneid | 2033 |
---|---|
ensemblid | ENSG00000100393.15 |
hgncid | 3373 |
symbol | EP300 |
name | E1A binding protein p300 |
refseq_nuc | NM_001429.4 |
refseq_prot | NP_001420.2 |
ensembl_nuc | ENST00000263253.9 |
ensembl_prot | ENSP00000263253.7 |
mane_status | MANE Select |
chr | chr22 |
start | 41092592 |
end | 41180077 |
strand | + |
ver | v1.2 |
region | chr22:41092592-41180077 |
region5000 | chr22:41087592-41185077 |
regionname0 | EP300_chr22_41092592_41180077 |
regionname5000 | EP300_chr22_41087592_41185077 |
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 | 1/0 | 2414 | 241 | 82 | 29 | 96 | 10 | 23 | 70 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002 | 0/1 | 2414 | 47 | 2 | 20 | 6 | 4 | 14 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0003 | 0/0 | 2414 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0004 | 0/0 | 2414 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0005 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0006 | 0/0 | 2414 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0007 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0008 | 0/0 | 2414 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0009 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0010 | 0/0 | 2414 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0011 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0012 | 0/0 | 2414 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/0 | 7245 | 93 | 28 | 18 | 27 | 7 | 12 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0002 | 0/0 | 7245 | 78 | 13 | 8 | 45 | 3 | 9 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0003 | 0/1 | 7245 | 44 | 2 | 18 | 6 | 4 | 13 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0004 | 0/0 | 7245 | 36 | 14 | 2 | 20 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0005 | 0/0 | 7245 | 10 | 10 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0006 | 0/0 | 7245 | 7 | 7 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0007 | 0/0 | 7245 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0008 | 0/0 | 7245 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0009 | 0/0 | 7245 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0010 | 0/0 | 7245 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0011 | 0/0 | 7245 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0012 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0013 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0014 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0015 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0016 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0017 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0018 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0019 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0020 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0021 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0022 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0023 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0024 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0025 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0026 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0027 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0028 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0029 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0030 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
c0031 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/1 | 1519 | 40 | 1 | 17 | 7 | 2 | 12 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0002 | 0/0 | 1523 | 34 | 1 | 6 | 22 | 0 | 5 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0003 | 1/0 | 1535 | 26 | 11 | 4 | 5 | 1 | 4 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0004 | 0/0 | 1537 | 18 | 9 | 4 | 4 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0005 | 0/0 | 1525 | 15 | 3 | 0 | 11 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0006 | 0/0 | 1527 | 11 | 0 | 1 | 6 | 1 | 3 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0007 | 0/0 | 1531 | 10 | 9 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0008 | 0/0 | 1529 | 10 | 1 | 3 | 1 | 4 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0009 | 0/0 | 1527 | 10 | 0 | 3 | 7 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0010 | 0/0 | 1533 | 6 | 3 | 1 | 1 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0011 | 0/0 | 1527 | 6 | 3 | 1 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0012 | 0/0 | 1521 | 6 | 5 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0013 | 0/0 | 1521 | 6 | 1 | 3 | 0 | 1 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0014 | 0/0 | 1523 | 5 | 5 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0015 | 0/0 | 1524 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0016 | 0/0 | 1533 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0017 | 0/0 | 1531 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0018 | 0/0 | 1511 | 4 | 1 | 1 | 0 | 1 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0019 | 0/0 | 1517 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0020 | 0/0 | 1529 | 3 | 1 | 0 | 0 | 0 | 2 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0021 | 0/0 | 1527 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0022 | 0/0 | 1526 | 3 | 0 | 1 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0023 | 0/0 | 1528 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0024 | 0/0 | 1534 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0025 | 0/0 | 1526 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0026 | 0/0 | 1539 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0027 | 0/0 | 1535 | 2 | 1 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0028 | 0/0 | 1528 | 2 | 0 | 0 | 1 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0029 | 0/0 | 1529 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0030 | 0/0 | 1530 | 2 | 0 | 0 | 1 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0031 | 0/0 | 1528 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0032 | 0/0 | 1527 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0033 | 0/0 | 1535 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0034 | 0/0 | 1533 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0035 | 0/0 | 1535 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0036 | 0/0 | 1530 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0037 | 0/0 | 1517 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0038 | 0/0 | 1536 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0039 | 0/0 | 1534 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0040 | 0/0 | 1530 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0041 | 0/0 | 1528 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0042 | 0/0 | 1522 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0043 | 0/0 | 1528 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0044 | 0/0 | 1551 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0045 | 0/0 | 1527 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0046 | 0/0 | 1519 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0047 | 0/0 | 1513 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0048 | 0/0 | 1535 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0049 | 0/0 | 1535 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0050 | 0/0 | 1535 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0051 | 0/0 | 1528 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0052 | 0/0 | 1535 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0053 | 0/0 | 1529 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0054 | 0/0 | 1527 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0055 | 0/0 | 1528 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0056 | 0/0 | 1526 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0057 | 0/0 | 1529 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0058 | 0/0 | 1526 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0059 | 0/0 | 1527 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0060 | 0/0 | 1526 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0061 | 0/0 | 1529 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0062 | 0/0 | 1527 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0063 | 0/0 | 1530 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0064 | 0/0 | 1518 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0065 | 0/0 | 1529 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0066 | 0/0 | 1538 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0067 | 0/0 | 1534 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0068 | 0/0 | 1530 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0069 | 0/0 | 1526 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0070 | 0/0 | 1524 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0071 | 0/0 | 1529 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0072 | 0/0 | 1537 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0073 | 0/0 | 1519 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0074 | 0/0 | 1509 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0075 | 0/0 | 1535 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0076 | 0/0 | 1531 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
t0077 | 0/0 | 1533 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
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 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0082 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0157 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0210 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0218 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0244 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0253 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0255 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0267 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0291 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 7245 | 93 | 28 | 18 | 27 | 7 | 12 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002 | 0/0 | 7245 | 78 | 13 | 8 | 45 | 3 | 9 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004 | 0/0 | 7245 | 36 | 14 | 2 | 20 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0005 | 0/0 | 7245 | 10 | 10 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0006 | 0/0 | 7245 | 7 | 7 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0007 | 0/0 | 7245 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0009 | 0/0 | 7245 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0010 | 0/0 | 7245 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0011 | 0/0 | 7245 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0013 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0016 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0018 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0021 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0022 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0023 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0028 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0030 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0003 | 0/1 | 7245 | 44 | 2 | 18 | 6 | 4 | 13 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0024 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0027 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0029 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0003c0008 | 0/0 | 7245 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0004c0020 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0005c0019 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0006c0017 | 0/0 | 7245 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0007c0015 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0008c0014 | 0/0 | 7245 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0009c0025 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0010c0026 | 0/0 | 7245 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0011c0012 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0012c0031 | 0/0 | 7245 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002 | 0/0 | 8767 | 30 | 0 | 5 | 20 | 0 | 5 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0003 | 1/0 | 8779 | 10 | 1 | 3 | 0 | 1 | 4 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0004 | 0/0 | 8781 | 7 | 3 | 3 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0005 | 0/0 | 8769 | 2 | 1 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0007 | 0/0 | 8775 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0008 | 0/0 | 8773 | 9 | 1 | 3 | 0 | 4 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0010 | 0/0 | 8777 | 2 | 0 | 1 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0011 | 0/0 | 8771 | 5 | 3 | 1 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0012 | 0/0 | 8765 | 6 | 5 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0015 | 0/0 | 8768 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0019 | 0/0 | 8761 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0024 | 0/0 | 8778 | 3 | 3 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0025 | 0/0 | 8770 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0026 | 0/0 | 8783 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0037 | 0/0 | 8761 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0038 | 0/0 | 8780 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0039 | 0/0 | 8778 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0040 | 0/0 | 8774 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0041 | 0/0 | 8772 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0047 | 0/0 | 8757 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0070 | 0/0 | 8768 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0001t0077 | 0/0 | 8777 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0001 | 0/0 | 8763 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0003 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0004 | 0/0 | 8781 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0005 | 0/0 | 8769 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0006 | 0/0 | 8771 | 9 | 0 | 1 | 5 | 1 | 2 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0009 | 0/0 | 8771 | 10 | 0 | 3 | 7 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0010 | 0/0 | 8777 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0013 | 0/0 | 8765 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0014 | 0/0 | 8767 | 5 | 5 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0020 | 0/0 | 8773 | 3 | 1 | 0 | 0 | 0 | 2 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0021 | 0/0 | 8771 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0022 | 0/0 | 8770 | 3 | 0 | 1 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0023 | 0/0 | 8772 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0027 | 0/0 | 8779 | 2 | 1 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0028 | 0/0 | 8772 | 2 | 0 | 0 | 1 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0029 | 0/0 | 8773 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0030 | 0/0 | 8774 | 2 | 0 | 0 | 1 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0032 | 0/0 | 8771 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0036 | 0/0 | 8774 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0043 | 0/0 | 8772 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0045 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0048 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0049 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0050 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0051 | 0/0 | 8772 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0053 | 0/0 | 8773 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0054 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0055 | 0/0 | 8772 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0056 | 0/0 | 8770 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0057 | 0/0 | 8773 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0059 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0060 | 0/0 | 8770 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0061 | 0/0 | 8773 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0062 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0063 | 0/0 | 8774 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0064 | 0/0 | 8762 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0065 | 0/0 | 8773 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0069 | 0/0 | 8770 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0002t0071 | 0/0 | 8773 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0002 | 0/0 | 8767 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0003 | 0/0 | 8779 | 12 | 6 | 1 | 5 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0004 | 0/0 | 8781 | 5 | 5 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0005 | 0/0 | 8769 | 4 | 0 | 0 | 4 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0007 | 0/0 | 8775 | 2 | 1 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0008 | 0/0 | 8773 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0010 | 0/0 | 8777 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0011 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0025 | 0/0 | 8770 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0026 | 0/0 | 8783 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0033 | 0/0 | 8779 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0034 | 0/0 | 8777 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0035 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0044 | 0/0 | 8795 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0004t0076 | 0/0 | 8775 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0005t0016 | 0/0 | 8777 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0005t0017 | 0/0 | 8775 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0005t0072 | 0/0 | 8781 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0005t0075 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0006t0003 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0006t0007 | 0/0 | 8775 | 4 | 4 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0006t0010 | 0/0 | 8777 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0006t0046 | 0/0 | 8763 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0007t0003 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0007t0066 | 0/0 | 8782 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0007t0067 | 0/0 | 8778 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0009t0002 | 0/0 | 8767 | 2 | 1 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0010t0005 | 0/0 | 8769 | 2 | 2 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0011t0031 | 0/0 | 8772 | 2 | 0 | 0 | 2 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0013t0004 | 0/0 | 8781 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0016t0058 | 0/0 | 8770 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0018t0052 | 0/0 | 8779 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0021t0005 | 0/0 | 8769 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0022t0003 | 0/0 | 8779 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0023t0004 | 0/0 | 8781 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0028t0015 | 0/0 | 8768 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0001c0030t0042 | 0/0 | 8766 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0003t0001 | 0/1 | 8763 | 35 | 1 | 14 | 6 | 2 | 11 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0003t0013 | 0/0 | 8765 | 5 | 0 | 3 | 0 | 1 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0003t0018 | 0/0 | 8755 | 3 | 1 | 0 | 0 | 1 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0003t0073 | 0/0 | 8763 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0024t0074 | 0/0 | 8753 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0027t0001 | 0/0 | 8763 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0002c0029t0001 | 0/0 | 8763 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0003c0008t0005 | 0/0 | 8769 | 3 | 0 | 0 | 3 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0004c0020t0007 | 0/0 | 8775 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0005c0019t0006 | 0/0 | 8771 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0006c0017t0006 | 0/0 | 8771 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0007c0015t0002 | 0/0 | 8767 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0008c0014t0068 | 0/0 | 8774 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0009c0025t0001 | 0/0 | 8763 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0010c0026t0001 | 0/0 | 8763 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0011c0012t0018 | 0/0 | 8755 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
a0012c0031t0004 | 0/0 | 8781 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | copy fasta | chr22 | 41087592 | 41185077 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0244 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0002g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0255 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0003g0291 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0004g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0005g0210 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0005g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0007g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0007g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0007g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0218 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0253 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0008g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0010g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0010g0267 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0011g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0011g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0011g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0011g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0011g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0012g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0015g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0015g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0015g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0019g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0019g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0019g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0024g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0024g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0024g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0025g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0026g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0037g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0038g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0039g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0040g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0041g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0047g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0070g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0001t0077g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0003g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0004g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0004g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0004g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0005g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0082 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0006g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0009g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0010g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0010g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0013g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0014g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0014g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0014g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0014g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0014g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0020g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0020g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0020g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0021g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0021g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0021g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0022g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0022g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0022g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0023g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0023g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0023g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0027g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0027g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0028g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0028g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0029g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0029g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0030g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0030g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0032g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0032g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0036g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0043g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0045g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0048g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0049g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0050g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0051g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0053g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0054g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0055g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0056g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0057g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0059g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0060g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0061g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0062g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0063g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0064g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0065g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0069g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0002t0071g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0004g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0005g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0005g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0005g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0007g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0007g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0008g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0010g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0011g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0025g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0026g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0033g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0033g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0034g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0034g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0035g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0044g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0004t0076g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0016g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0016g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0016g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0016g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0017g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0017g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0017g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0017g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0072g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0005t0075g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0007g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0007g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0007g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0007g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0010g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0006t0046g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0066g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0007t0067g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0009t0002g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0009t0002g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0010t0005g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0010t0005g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0011t0031g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0011t0031g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0013t0004g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0016t0058g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0018t0052g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0021t0005g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0022t0003g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0023t0004g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0028t0015g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0001c0030t0042g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0157 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0013g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0013g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0013g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0013g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0013g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0018g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0018g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0018g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0003t0073g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0024t0074g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0027t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0002c0029t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0005g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0005g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0003c0008t0005g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0004c0020t0007g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0005c0019t0006g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0006c0017t0006g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0007c0015t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0008c0014t0068g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0009c0025t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0010c0026t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0011c0012t0018g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
a0012c0031t0004g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0005 | g0210 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00099 | hp2 | a0002 | c0003 | t0001 | g0156 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00140 | hp1 | a0001 | c0002 | t0006 | g0082 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00140 | hp2 | a0001 | c0001 | t0008 | g0253 | EUR | GBR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00280 | hp1 | a0001 | c0001 | t0010 | g0267 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00280 | hp2 | a0002 | c0003 | t0001 | g0170 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00323 | hp1 | a0002 | c0003 | t0013 | g0136 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00323 | hp2 | a0001 | c0002 | t0030 | g0060 | EUR | FIN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00408 | hp1 | a0001 | c0001 | t0002 | g0223 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00408 | hp2 | a0001 | c0002 | t0006 | g0125 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00423 | hp1 | a0001 | c0002 | t0009 | g0126 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00423 | hp2 | a0002 | c0003 | t0001 | g0178 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00544 | hp1 | a0001 | c0004 | t0003 | g0022 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00544 | hp2 | a0001 | c0001 | t0002 | g0217 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00558 | hp1 | a0001 | c0002 | t0006 | g0122 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00558 | hp2 | a0001 | c0001 | t0002 | g0240 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00597 | hp1 | a0010 | c0026 | t0001 | g0185 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00597 | hp2 | a0001 | c0004 | t0005 | g0029 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00609 | hp1 | a0002 | c0003 | t0001 | g0181 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00609 | hp2 | a0005 | c0019 | t0006 | g0297 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00639 | hp1 | a0001 | c0001 | t0003 | g0278 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00639 | hp2 | a0001 | c0002 | t0065 | g0083 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00642 | hp1 | a0001 | c0001 | t0002 | g0239 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00642 | hp2 | a0002 | c0003 | t0001 | g0149 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00673 | hp1 | a0001 | c0002 | t0043 | g0058 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00673 | hp2 | a0001 | c0002 | t0004 | g0087 | EAS | CHS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00733 | hp1 | a0001 | c0001 | t0008 | g0261 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00733 | hp2 | a0002 | c0003 | t0013 | g0174 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00735 | hp1 | a0001 | c0001 | t0003 | g0268 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00735 | hp2 | a0002 | c0003 | t0001 | g0159 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00738 | hp1 | a0002 | c0003 | t0001 | g0153 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG00738 | hp2 | a0001 | c0001 | t0010 | g0265 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01069 | hp1 | a0012 | c0031 | t0004 | g0247 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01069 | hp2 | a0002 | c0003 | t0073 | g0132 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01070 | hp1 | a0002 | c0003 | t0001 | g0158 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01070 | hp2 | a0001 | c0001 | t0008 | g0274 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01081 | hp1 | a0001 | c0001 | t0004 | g0266 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01081 | hp2 | a0001 | c0002 | t0009 | g0079 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01099 | hp1 | a0001 | c0001 | t0047 | g0285 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01099 | hp2 | a0002 | c0003 | t0001 | g0146 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01106 | hp1 | a0001 | c0001 | t0008 | g0238 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01106 | hp2 | a0002 | c0003 | t0001 | g0152 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01109 | hp1 | a0002 | c0003 | t0013 | g0150 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01109 | hp2 | a0001 | c0009 | t0002 | g0200 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01167 | hp1 | a0001 | c0001 | t0004 | g0264 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01167 | hp2 | a0002 | c0003 | t0013 | g0137 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01169 | hp1 | a0001 | c0002 | t0006 | g0055 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01169 | hp2 | a0001 | c0001 | t0004 | g0258 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01175 | hp1 | a0001 | c0002 | t0009 | g0121 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01175 | hp2 | a0011 | c0012 | t0018 | g0143 | AMR | PUR | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01257 | hp1 | a0002 | c0029 | t0001 | g0154 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01257 | hp2 | a0001 | c0002 | t0022 | g0086 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01261 | hp1 | a0001 | c0001 | t0002 | g0228 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01261 | hp2 | a0002 | c0003 | t0001 | g0151 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01346 | hp1 | a0002 | c0003 | t0001 | g0161 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01346 | hp2 | a0001 | c0001 | t0002 | g0246 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01433 | hp1 | a0001 | c0001 | t0002 | g0209 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01433 | hp2 | a0001 | c0001 | t0012 | g0295 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01496 | hp1 | a0001 | c0001 | t0011 | g0271 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01496 | hp2 | a0002 | c0003 | t0001 | g0171 | AMR | CLM | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01516 | hp1 | a0001 | c0002 | t0063 | g0089 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01516 | hp2 | a0001 | c0001 | t0008 | g0241 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01517 | hp1 | a0001 | c0001 | t0008 | g0218 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01517 | hp2 | a0001 | c0001 | t0003 | g0255 | EUR | IBS | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01884 | hp1 | a0001 | c0005 | t0072 | g0113 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01884 | hp2 | a0001 | c0001 | t0024 | g0283 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01891 | hp1 | a0001 | c0006 | t0010 | g0042 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01891 | hp2 | a0001 | c0005 | t0017 | g0112 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01934 | hp1 | a0002 | c0003 | t0001 | g0173 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01934 | hp2 | a0001 | c0004 | t0003 | g0010 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01943 | hp1 | a0002 | c0024 | t0074 | g0160 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01943 | hp2 | a0001 | c0001 | t0003 | g0249 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01952 | hp1 | a0002 | c0003 | t0001 | g0162 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01952 | hp2 | a0001 | c0002 | t0009 | g0105 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01981 | hp1 | a0009 | c0025 | t0001 | g0139 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01981 | hp2 | a0001 | c0001 | t0002 | g0212 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01993 | hp1 | a0002 | c0003 | t0001 | g0131 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG01993 | hp2 | a0001 | c0002 | t0001 | g0103 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02027 | hp1 | a0001 | c0004 | t0007 | g0039 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02027 | hp2 | a0002 | c0003 | t0001 | g0183 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02056 | hp1 | a0001 | c0002 | t0029 | g0124 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02056 | hp2 | a0001 | c0004 | t0003 | g0038 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02071 | hp1 | a0001 | c0002 | t0045 | g0075 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02071 | hp2 | a0002 | c0003 | t0001 | g0155 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02083 | hp1 | a0001 | c0002 | t0056 | g0078 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02083 | hp2 | a0001 | c0004 | t0011 | g0023 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02129 | hp1 | a0001 | c0001 | t0002 | g0219 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02129 | hp2 | a0001 | c0002 | t0021 | g0300 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02132 | hp1 | a0001 | c0004 | t0008 | g0026 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02132 | hp2 | a0001 | c0002 | t0006 | g0119 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02145 | hp1 | a0001 | c0004 | t0044 | g0015 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02145 | hp2 | a0001 | c0005 | t0017 | g0111 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02148 | hp1 | a0002 | c0003 | t0001 | g0148 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02148 | hp2 | a0001 | c0004 | t0025 | g0028 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02165 | hp1 | a0001 | c0001 | t0002 | g0226 | EAS | CDX | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02165 | hp2 | a0001 | c0021 | t0005 | g0298 | EAS | CDX | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02257 | hp1 | a0001 | c0001 | t0008 | g0242 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02257 | hp2 | a0001 | c0006 | t0007 | g0043 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02258 | hp1 | a0001 | c0001 | t0024 | g0284 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02258 | hp2 | a0001 | c0007 | t0003 | g0198 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02280 | hp1 | a0001 | c0002 | t0014 | g0141 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02280 | hp2 | a0001 | c0001 | t0012 | g0294 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02293 | hp1 | a0002 | c0003 | t0001 | g0169 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02293 | hp2 | a0001 | c0002 | t0069 | g0064 | AMR | PEL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02523 | hp1 | a0001 | c0002 | t0055 | g0299 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02523 | hp2 | a0002 | c0003 | t0001 | g0182 | EAS | KHV | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02572 | hp1 | a0001 | c0002 | t0032 | g0102 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02572 | hp2 | a0001 | c0001 | t0011 | g0252 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02602 | hp1 | a0001 | c0002 | t0006 | g0063 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02602 | hp2 | a0002 | c0003 | t0001 | g0172 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02615 | hp1 | a0001 | c0001 | t0038 | g0275 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02615 | hp2 | a0001 | c0013 | t0004 | g0007 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02622 | hp1 | a0001 | c0001 | t0011 | g0276 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02622 | hp2 | a0001 | c0004 | t0003 | g0008 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02630 | hp1 | a0001 | c0002 | t0013 | g0166 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02630 | hp2 | a0001 | c0006 | t0007 | g0046 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02647 | hp1 | a0001 | c0010 | t0005 | g0201 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02647 | hp2 | a0001 | c0002 | t0032 | g0101 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02683 | hp1 | a0002 | c0003 | t0001 | g0175 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02683 | hp2 | a0001 | c0001 | t0002 | g0221 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02698 | hp1 | a0001 | c0001 | t0077 | g0248 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02698 | hp2 | a0002 | c0003 | t0001 | g0140 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02717 | hp1 | a0001 | c0005 | t0016 | g0109 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02717 | hp2 | a0001 | c0001 | t0039 | g0272 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02723 | hp1 | a0001 | c0010 | t0005 | g0202 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02723 | hp2 | a0001 | c0004 | t0004 | g0016 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02735 | hp1 | a0002 | c0027 | t0001 | g0179 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02735 | hp2 | a0001 | c0001 | t0002 | g0206 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02738 | hp1 | a0001 | c0001 | t0002 | g0245 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02738 | hp2 | a0001 | c0001 | t0002 | g0237 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02818 | hp1 | a0004 | c0020 | t0007 | g0186 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02818 | hp2 | a0001 | c0001 | t0024 | g0277 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02886 | hp1 | a0001 | c0004 | t0003 | g0009 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02886 | hp2 | a0001 | c0001 | t0015 | g0195 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02895 | hp1 | a0001 | c0004 | t0003 | g0012 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02895 | hp2 | a0001 | c0001 | t0012 | g0293 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02896 | hp1 | a0001 | c0004 | t0003 | g0005 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02896 | hp2 | a0001 | c0002 | t0010 | g0057 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02897 | hp1 | a0001 | c0002 | t0010 | g0056 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02897 | hp2 | a0001 | c0004 | t0004 | g0013 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02965 | hp1 | a0001 | c0002 | t0014 | g0167 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02965 | hp2 | a0001 | c0001 | t0007 | g0286 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02970 | hp1 | a0001 | c0005 | t0017 | g0108 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02970 | hp2 | a0001 | c0001 | t0025 | g0188 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02976 | hp1 | a0001 | c0001 | t0007 | g0287 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02976 | hp2 | a0001 | c0001 | t0005 | g0270 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03017 | hp1 | a0001 | c0002 | t0064 | g0053 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03017 | hp2 | a0002 | c0003 | t0001 | g0133 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03041 | hp1 | a0001 | c0004 | t0003 | g0003 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03041 | hp2 | a0001 | c0001 | t0012 | g0292 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03098 | hp1 | a0001 | c0004 | t0004 | g0040 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03098 | hp2 | a0001 | c0005 | t0016 | g0110 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03130 | hp1 | a0001 | c0001 | t0004 | g0280 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03130 | hp2 | a0001 | c0002 | t0014 | g0168 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03139 | hp1 | a0008 | c0014 | t0068 | g0193 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03139 | hp2 | a0001 | c0001 | t0004 | g0282 | AFR | ESN | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03209 | hp1 | a0001 | c0007 | t0067 | g0192 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03209 | hp2 | a0001 | c0006 | t0007 | g0048 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03225 | hp1 | a0001 | c0005 | t0016 | g0135 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03225 | hp2 | a0001 | c0004 | t0007 | g0001 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03239 | hp1 | a0001 | c0002 | t0020 | g0054 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03239 | hp2 | a0001 | c0023 | t0004 | g0250 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03453 | hp1 | a0001 | c0005 | t0016 | g0106 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03453 | hp2 | a0001 | c0009 | t0002 | g0199 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03486 | hp1 | a0001 | c0001 | t0015 | g0189 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03486 | hp2 | a0001 | c0002 | t0014 | g0165 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03490 | hp1 | a0002 | c0003 | t0001 | g0049 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03490 | hp2 | a0001 | c0001 | t0008 | g0254 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03491 | hp1 | a0001 | c0001 | t0003 | g0260 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03491 | hp2 | a0002 | c0003 | t0018 | g0145 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03492 | hp1 | a0002 | c0003 | t0001 | g0050 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03492 | hp2 | a0001 | c0001 | t0003 | g0256 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03540 | hp1 | a0001 | c0005 | t0017 | g0107 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03540 | hp2 | a0001 | c0002 | t0020 | g0099 | AFR | GWD | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03579 | hp1 | a0001 | c0006 | t0046 | g0047 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03579 | hp2 | a0001 | c0030 | t0042 | g0041 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03669 | hp1 | a0001 | c0002 | t0027 | g0076 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03669 | hp2 | a0001 | c0001 | t0040 | g0263 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03688 | hp1 | a0001 | c0002 | t0053 | g0114 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03688 | hp2 | a0002 | c0003 | t0001 | g0180 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03710 | hp1 | a0002 | c0003 | t0001 | g0163 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03710 | hp2 | a0006 | c0017 | t0006 | g0067 | SAS | PJL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03831 | hp1 | a0001 | c0001 | t0002 | g0244 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03831 | hp2 | a0001 | c0001 | t0003 | g0259 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03834 | hp1 | a0001 | c0016 | t0058 | g0096 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03834 | hp2 | a0001 | c0001 | t0003 | g0269 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03942 | hp1 | a0001 | c0002 | t0071 | g0081 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03942 | hp2 | a0002 | c0003 | t0013 | g0176 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04115 | hp1 | a0002 | c0003 | t0001 | g0104 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04115 | hp2 | a0001 | c0002 | t0020 | g0117 | SAS | STU | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04184 | hp1 | a0001 | c0002 | t0028 | g0128 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG04184 | hp2 | a0002 | c0003 | t0001 | g0142 | SAS | BEB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18522 | hp1 | a0001 | c0001 | t0003 | g0279 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18522 | hp2 | a0001 | c0002 | t0027 | g0116 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18612 | hp1 | a0001 | c0002 | t0006 | g0084 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18612 | hp2 | a0001 | c0001 | t0002 | g0213 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18747 | hp1 | a0001 | c0002 | t0021 | g0052 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18747 | hp2 | a0002 | c0003 | t0001 | g0184 | EAS | CHB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18906 | hp1 | a0001 | c0005 | t0075 | g0134 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18906 | hp2 | a0001 | c0001 | t0041 | g0187 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18943 | hp1 | a0001 | c0002 | t0009 | g0091 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18943 | hp2 | a0001 | c0001 | t0002 | g0211 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18946 | hp1 | a0001 | c0001 | t0019 | g0204 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18946 | hp2 | a0001 | c0002 | t0021 | g0080 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18947 | hp1 | a0001 | c0002 | t0048 | g0120 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18947 | hp2 | a0001 | c0001 | t0002 | g0229 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18948 | hp1 | a0001 | c0002 | t0060 | g0073 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18948 | hp2 | a0001 | c0004 | t0033 | g0002 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18953 | hp1 | a0001 | c0002 | t0023 | g0130 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18953 | hp2 | a0001 | c0001 | t0002 | g0227 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18959 | hp1 | a0001 | c0001 | t0019 | g0205 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18959 | hp2 | a0001 | c0002 | t0006 | g0062 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18960 | hp1 | a0001 | c0004 | t0076 | g0032 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18960 | hp2 | a0001 | c0002 | t0022 | g0069 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18964 | hp1 | a0001 | c0001 | t0002 | g0208 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18964 | hp2 | a0001 | c0004 | t0034 | g0037 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18968 | hp1 | a0001 | c0004 | t0005 | g0031 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18968 | hp2 | a0001 | c0002 | t0009 | g0093 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18970 | hp1 | a0001 | c0001 | t0002 | g0231 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18970 | hp2 | a0001 | c0004 | t0005 | g0034 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18971 | hp1 | a0001 | c0002 | t0004 | g0092 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18971 | hp2 | a0001 | c0001 | t0002 | g0214 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18980 | hp1 | a0001 | c0011 | t0031 | g0191 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18980 | hp2 | a0001 | c0002 | t0009 | g0074 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18985 | hp1 | a0001 | c0001 | t0011 | g0236 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18985 | hp2 | a0001 | c0002 | t0009 | g0127 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18986 | hp1 | a0001 | c0002 | t0057 | g0100 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18986 | hp2 | a0001 | c0001 | t0002 | g0224 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18988 | hp1 | a0003 | c0008 | t0005 | g0216 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18988 | hp2 | a0001 | c0002 | t0030 | g0066 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18992 | hp1 | a0001 | c0002 | t0029 | g0095 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18992 | hp2 | a0001 | c0001 | t0004 | g0257 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18993 | hp1 | a0001 | c0002 | t0022 | g0098 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18993 | hp2 | a0001 | c0001 | t0002 | g0222 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18994 | hp1 | a0003 | c0008 | t0005 | g0203 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18994 | hp2 | a0001 | c0004 | t0002 | g0033 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18995 | hp1 | a0001 | c0002 | t0005 | g0070 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18995 | hp2 | a0001 | c0004 | t0005 | g0019 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18998 | hp1 | a0001 | c0002 | t0051 | g0065 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18998 | hp2 | a0001 | c0002 | t0050 | g0061 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19003 | hp1 | a0001 | c0001 | t0002 | g0207 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19003 | hp2 | a0001 | c0002 | t0009 | g0051 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19007 | hp1 | a0001 | c0001 | t0002 | g0232 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19007 | hp2 | a0001 | c0002 | t0009 | g0094 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19009 | hp1 | a0001 | c0004 | t0010 | g0036 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19009 | hp2 | a0001 | c0001 | t0002 | g0230 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19010 | hp1 | a0001 | c0002 | t0028 | g0072 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19010 | hp2 | a0001 | c0004 | t0003 | g0021 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19012 | hp1 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19012 | hp2 | a0001 | c0002 | t0054 | g0088 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19030 | hp1 | a0001 | c0004 | t0004 | g0006 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19030 | hp2 | a0001 | c0001 | t0015 | g0196 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19043 | hp1 | a0001 | c0001 | t0012 | g0289 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19043 | hp2 | a0001 | c0001 | t0011 | g0273 | AFR | LWK | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19054 | hp1 | a0001 | c0004 | t0003 | g0027 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19054 | hp2 | a0001 | c0002 | t0061 | g0059 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19057 | hp1 | a0001 | c0002 | t0005 | g0020 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19057 | hp2 | a0001 | c0002 | t0004 | g0097 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19060 | hp1 | a0001 | c0002 | t0049 | g0090 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19060 | hp2 | a0001 | c0004 | t0034 | g0030 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19065 | hp1 | a0001 | c0011 | t0031 | g0190 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19065 | hp2 | a0003 | c0008 | t0005 | g0220 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19077 | hp1 | a0001 | c0001 | t0037 | g0243 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19077 | hp2 | a0001 | c0004 | t0003 | g0035 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19079 | hp1 | a0001 | c0002 | t0023 | g0068 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19079 | hp2 | a0001 | c0001 | t0002 | g0215 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19080 | hp1 | a0001 | c0018 | t0052 | g0123 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19080 | hp2 | a0001 | c0001 | t0019 | g0235 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19084 | hp1 | a0001 | c0001 | t0070 | g0233 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19084 | hp2 | a0001 | c0004 | t0035 | g0017 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19085 | hp1 | a0001 | c0001 | t0002 | g0225 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19085 | hp2 | a0001 | c0002 | t0036 | g0118 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19087 | hp1 | a0001 | c0002 | t0023 | g0077 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19087 | hp2 | a0001 | c0004 | t0033 | g0025 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19090 | hp1 | a0007 | c0015 | t0002 | g0024 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19090 | hp2 | a0001 | c0002 | t0059 | g0129 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19240 | hp1 | a0001 | c0001 | t0007 | g0288 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA19240 | hp2 | a0001 | c0007 | t0066 | g0194 | AFR | YRI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20129 | hp1 | a0001 | c0001 | t0026 | g0281 | AFR | ASW | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20129 | hp2 | a0001 | c0004 | t0003 | g0014 | AFR | ASW | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20805 | hp1 | a0001 | c0001 | t0008 | g0262 | EUR | TSI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20805 | hp2 | a0002 | c0003 | t0018 | g0138 | EUR | TSI | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20905 | hp1 | a0001 | c0002 | t0006 | g0085 | SAS | GIH | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20905 | hp2 | a0002 | c0003 | t0001 | g0147 | SAS | GIH | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02109 | hp1 | a0001 | c0028 | t0015 | g0197 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02109 | hp2 | a0001 | c0004 | t0004 | g0011 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02486 | hp1 | a0001 | c0006 | t0007 | g0045 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02486 | hp2 | a0001 | c0006 | t0003 | g0044 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02559 | hp1 | a0001 | c0002 | t0003 | g0115 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG02559 | hp2 | a0001 | c0022 | t0003 | g0296 | AFR | ACB | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03471 | hp1 | a0001 | c0004 | t0026 | g0004 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG03471 | hp2 | a0001 | c0002 | t0014 | g0164 | AFR | MSL | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG06807 | hp1 | a0002 | c0003 | t0018 | g0144 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
HG06807 | hp2 | a0001 | c0001 | t0004 | g0251 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18955 | hp1 | a0001 | c0002 | t0005 | g0018 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA18955 | hp2 | a0001 | c0002 | t0062 | g0071 | EAS | JPT | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20300 | hp1 | a0002 | c0003 | t0001 | g0177 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
NA20300 | hp2 | a0001 | c0001 | t0012 | g0290 | AFR | USA | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
homoSapiens_chm13v2 | hp1 | a0002 | c0003 | t0001 | g0157 | REF | REF | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0003 | g0291 | REF | REF | EP300_chr22_41087592_41185077 | EP300 | chr22 | 41087592 | 41185077 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41117468
|
A | G | 1 | a0012 | 1 | HG01069.hp1 | missense_variant | MODERATE | c.376A>G | p.Met126Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 789/8779 | 376/7245 | 126/2414 | chr22 | 41117468 | ||
chr22:41117723
|
G | A | 1 | a0011 | 1 | HG01175.hp2 | missense_variant | MODERATE | c.631G>A | p.Gly211Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 1044/8779 | 631/7245 | 211/2414 | chr22 | 41117723 | ||
chr22:41131624
|
A | G | 1 | a0003 | 3 | NA18988.hp1 NA18994.hp1 NA19065.hp2 |
missense_variant | MODERATE | c.1519A>G | p.Ser507Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/31 | 1932/8779 | 1519/7245 | 507/2414 | chr22 | 41131624 | ||
chr22:41152004
|
A | G | 4 | a0002a0009a0010others(1): Show | 50 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
missense_variant | MODERATE | c.2989A>G | p.Ile997Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/31 | 3402/8779 | 2989/7245 | 997/2414 | chr22 | 41152004 | ||
chr22:41176858
|
G | C | 1 | a0008 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.5147G>C | p.Ser1716Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 5560/8779 | 5147/7245 | 1716/2414 | chr22 | 41176858 | ||
chr22:41177334
|
C | T | 2 | a0007a0010 | 2 | HG00597.hp1 NA19090.hp1 |
missense_variant | MODERATE | c.5623C>T | p.Pro1875Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6036/8779 | 5623/7245 | 1875/2414 | chr22 | 41177334 | ||
chr22:41177380
|
C | G | 1 | a0004 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.5669C>G | p.Thr1890Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6082/8779 | 5669/7245 | 1890/2414 | chr22 | 41177380 | ||
chr22:41177839
|
C | A | 1 | a0006 | 1 | HG03710.hp2 | missense_variant | MODERATE | c.6128C>A | p.Pro2043Gln | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6541/8779 | 6128/7245 | 2043/2414 | chr22 | 41177839 | ||
chr22:41178055
|
C | T | 1 | a0009 | 1 | HG01981.hp1 | missense_variant | MODERATE | c.6344C>T | p.Pro2115Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6757/8779 | 6344/7245 | 2115/2414 | chr22 | 41178055 | ||
chr22:41178192
|
A | G | 1 | a0005 | 1 | HG00609.hp2 | missense_variant | MODERATE | c.6481A>G | p.Met2161Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6894/8779 | 6481/7245 | 2161/2414 | chr22 | 41178192 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41117770
|
C | G | 1 | a0001c0011 | 2 | NA18980.hp1 NA19065.hp1 |
synonymous_variant | LOW | c.678C>G | p.Gly226Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/31 | 1091/8779 | 678/7245 | 226/2414 | chr22 | 41117770 | ||
chr22:41127522
|
C | T | 1 | a0001c0005 | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
synonymous_variant | LOW | c.942C>T | p.Gly314Gly | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/31 | 1355/8779 | 942/7245 | 314/2414 | chr22 | 41127522 | ||
chr22:41137716
|
A | C | 1 | a0001c0030 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.1686A>C | p.Pro562Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/31 | 2099/8779 | 1686/7245 | 562/2414 | chr22 | 41137716 | ||
chr22:41141188
|
T | C | 2 | a0001c0009a0001c0010 | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
synonymous_variant | LOW | c.2019T>C | p.Pro673Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/31 | 2432/8779 | 2019/7245 | 673/2414 | chr22 | 41141188 | ||
chr22:41147889
|
G | T | 1 | a0002c0029 | 1 | HG01257.hp1 | synonymous_variant | LOW | c.2184G>T | p.Arg728Arg | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/31 | 2597/8779 | 2184/7245 | 728/2414 | chr22 | 41147889 | ||
chr22:41149787
|
G | A | 1 | a0001c0013 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2406G>A | p.Pro802Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2819/8779 | 2406/7245 | 802/2414 | chr22 | 41149787 | ||
chr22:41149880
|
G | A | 2 | a0001c0007a0008c0014 | 4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
synonymous_variant | LOW | c.2499G>A | p.Ser833Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2912/8779 | 2499/7245 | 833/2414 | chr22 | 41149880 | ||
chr22:41149949
|
A | G | 1 | a0001c0028 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.2568A>G | p.Ala856Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/31 | 2981/8779 | 2568/7245 | 856/2414 | chr22 | 41149949 | ||
chr22:41152238
|
C | G | 1 | a0001c0010 | 2 | HG02647.hp1 HG02723.hp1 |
synonymous_variant | LOW | c.3030C>G | p.Thr1010Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/31 | 3443/8779 | 3030/7245 | 1010/2414 | chr22 | 41152238 | ||
chr22:41152313
|
C | T | 1 | a0002c0027 | 1 | HG02735.hp1 | synonymous_variant | LOW | c.3105C>T | p.Thr1035Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/31 | 3518/8779 | 3105/7245 | 1035/2414 | chr22 | 41152313 | ||
chr22:41155014
|
A | G | 1 | a0001c0023 | 1 | HG03239.hp2 | synonymous_variant | LOW | c.3162A>G | p.Leu1054Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/31 | 3575/8779 | 3162/7245 | 1054/2414 | chr22 | 41155014 | ||
chr22:41155035
|
T | A | 21 | a0001c0002a0001c0004a0001c0005others(18): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
synonymous_variant | LOW | c.3183T>A | p.Thr1061Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/31 | 3596/8779 | 3183/7245 | 1061/2414 | chr22 | 41155035 | ||
chr22:41157255
|
G | A | 3 | a0001c0004a0001c0013a0007c0015 | 38 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(35): Show |
synonymous_variant | LOW | c.3348G>A | p.Gln1116Gln | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/31 | 3761/8779 | 3348/7245 | 1116/2414 | chr22 | 41157255 | ||
chr22:41157333
|
C | T | 1 | a0001c0006 | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
synonymous_variant | LOW | c.3426C>T | p.Cys1142Cys | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/31 | 3839/8779 | 3426/7245 | 1142/2414 | chr22 | 41157333 | ||
chr22:41170430
|
A | C | 1 | a0001c0011 | 2 | NA18980.hp1 NA19065.hp1 |
synonymous_variant | LOW | c.4311A>C | p.Ala1437Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/31 | 4724/8779 | 4311/7245 | 1437/2414 | chr22 | 41170430 | ||
chr22:41172549
|
G | A | 1 | a0001c0016 | 1 | HG03834.hp1 | synonymous_variant | LOW | c.4503G>A | p.Leu1501Leu | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/31 | 4916/8779 | 4503/7245 | 1501/2414 | chr22 | 41172549 | ||
chr22:41172645
|
C | G | 1 | a0004c0020 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.4599C>G | p.Thr1533Thr | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/31 | 5012/8779 | 4599/7245 | 1533/2414 | chr22 | 41172645 | ||
chr22:41176982
|
C | T | 1 | a0004c0020 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.5271C>T | p.Ser1757Ser | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 5684/8779 | 5271/7245 | 1757/2414 | chr22 | 41176982 | ||
chr22:41177936
|
C | T | 1 | a0001c0022 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.6225C>T | p.His2075His | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6638/8779 | 6225/7245 | 2075/2414 | chr22 | 41177936 | ||
chr22:41178083
|
C | T | 2 | a0001c0007a0008c0014 | 4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
synonymous_variant | LOW | c.6372C>T | p.Val2124Val | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6785/8779 | 6372/7245 | 2124/2414 | chr22 | 41178083 | ||
chr22:41178125
|
G | A | 1 | a0001c0021 | 1 | HG02165.hp2 | synonymous_variant | LOW | c.6414G>A | p.Ala2138Ala | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 6827/8779 | 6414/7245 | 2138/2414 | chr22 | 41178125 | ||
chr22:41178662
|
G | A | 1 | a0001c0018 | 1 | NA19080.hp1 | synonymous_variant | LOW | c.6951G>A | p.Arg2317Arg | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 7364/8779 | 6951/7245 | 2317/2414 | chr22 | 41178662 | ||
chr22:41178680
|
C | T | 1 | a0002c0024 | 1 | HG01943.hp1 | synonymous_variant | LOW | c.6969C>T | p.Pro2323Pro | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 7382/8779 | 6969/7245 | 2323/2414 | chr22 | 41178680 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41092632
|
G | A | 1 | a0001c0004t0035 | 1 | NA19084.hp2 | 5_prime_UTR_variant | MODIFIER | c.-373G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 373 | chr22 | 41092632 | |||||
chr22:41092772
|
C | T | 1 | a0001c0001t0077 | 1 | HG02698.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-233C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | chr22 | 41092772 | ||||||
chr22:41092856
|
G | A | 1 | a0001c0002t0036 | 1 | NA19085.hp2 | 5_prime_UTR_variant | MODIFIER | c.-149G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 149 | chr22 | 41092856 | |||||
chr22:41092872
|
A | G | 3 | a0001c0004t0033a0001c0004t0034a0001c0004t0076 | 5 | NA18948.hp2 NA18960.hp1 NA18964.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-133A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 133 | chr22 | 41092872 | |||||
chr22:41092910
|
G | T | 1 | a0001c0005t0075 | 1 | NA18906.hp1 | 5_prime_UTR_variant | MODIFIER | c.-95G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/31 | 95 | chr22 | 41092910 | |||||
chr22:41178965
|
TGTA | T | 14 | a0001c0002t0001a0001c0002t0013a0001c0002t0014others(11): Show | 59 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*13_*15delGTA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 13 | INFO_REALIGN_3_PRIME | chr22 | 41178965 | ||||
chr22:41179093
|
C | T | 4 | a0001c0005t0016a0001c0005t0017a0001c0005t0072others(1): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*137C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 137 | chr22 | 41179093 | |||||
chr22:41179094
|
G | A | 1 | a0002c0003t0073 | 1 | HG01069.hp2 | 3_prime_UTR_variant | MODIFIER | c.*138G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 138 | chr22 | 41179094 | |||||
chr22:41179143
|
T | G | 1 | a0001c0002t0032 | 2 | HG02572.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*187T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 187 | chr22 | 41179143 | |||||
chr22:41179234
|
G | C | 1 | a0001c0001t0037 | 1 | NA19077.hp1 | 3_prime_UTR_variant | MODIFIER | c.*278G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 278 | chr22 | 41179234 | |||||
chr22:41179254
|
A | G | 1 | a0001c0002t0071 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*298A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 298 | chr22 | 41179254 | |||||
chr22:41179288
|
A | AT | 2 | a0001c0001t0024a0001c0001t0070 | 4 | HG01884.hp2 HG02258.hp1 HG02818.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*340dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 341 | INFO_REALIGN_3_PRIME | chr22 | 41179288 | ||||
chr22:41179533
|
T | TA | 25 | a0001c0001t0015a0001c0001t0025a0001c0001t0038others(22): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
3_prime_UTR_variant | MODIFIER | c.*592dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 593 | INFO_REALIGN_3_PRIME | chr22 | 41179533 | ||||
chr22:41179533
|
TA | T | 5 | a0001c0002t0069a0001c0007t0066a0001c0007t0067others(2): Show | 6 | HG02293.hp2 HG03139.hp1 HG03209.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*592delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 592 | INFO_REALIGN_3_PRIME | chr22 | 41179533 | ||||
chr22:41179876
|
C | CCACACAC others(9): Show |
1 | a0001c0004t0044 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*923_*924insACACAC others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | ||||
chr22:41179876
|
CCACTCA | C | 6 | a0001c0002t0020a0001c0002t0029a0001c0002t0053others(3): Show | 9 | HG00639.hp2 HG02056.hp1 HG03239.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*924_*929delTCACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | ||||
chr22:41179876
|
CCACTCAC others(1): Show |
C | 11 | a0001c0002t0006a0001c0002t0009a0001c0002t0021others(8): Show | 30 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*924_*931delTCACAC others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | 41179876 | ||||
chr22:41179877
|
CACTCA | C | 3 | a0001c0002t0030a0001c0002t0036a0001c0002t0063 | 4 | HG00323.hp2 HG01516.hp1 NA18988.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*926delACTCA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | |||||
chr22:41179877
|
CACTCACA | C | 5 | a0001c0002t0023a0001c0002t0028a0001c0002t0051others(2): Show | 8 | HG02523.hp1 HG03942.hp1 HG04184.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*928delACTCAC others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | |||||
chr22:41179877
|
CACTCACA others(2): Show |
C | 4 | a0001c0002t0022a0001c0002t0056a0001c0002t0060others(1): Show | 6 | HG01257.hp2 HG02083.hp1 HG03834.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*922_*930delACTCAC others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | |||||
chr22:41179877
|
CACTCACA others(10): Show |
C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*922_*938delACTCAC others(11): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179877 | |||||
chr22:41179878
|
A | C | 1 | a0001c0018t0052 | 1 | NA19080.hp1 | 3_prime_UTR_variant | MODIFIER | c.*922A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | 41179878 | |||||
chr22:41179880
|
T | A | 1 | a0001c0004t0044 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*924T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | chr22 | 41179880 | |||||
chr22:41179880
|
T | C | 1 | a0001c0018t0052 | 1 | NA19080.hp1 | 3_prime_UTR_variant | MODIFIER | c.*924T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | chr22 | 41179880 | |||||
chr22:41179880
|
T | TCA | 7 | a0001c0001t0004a0001c0002t0004a0001c0004t0004others(4): Show | 19 | HG00673.hp2 HG01069.hp1 HG01081.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*966_*967dupAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 968 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
T | TCACA | 3 | a0001c0001t0026a0001c0004t0026a0001c0007t0066 | 3 | HG03471.hp1 NA19240.hp2 NA20129.hp1 |
3_prime_UTR_variant | MODIFIER | c.*964_*967dupACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 968 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCA | T | 9 | a0001c0001t0010a0001c0001t0024a0001c0001t0039others(6): Show | 17 | HG00280.hp1 HG00738.hp2 HG01884.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*966_*967delAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 966 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACA | T | 7 | a0001c0001t0007a0001c0004t0007a0001c0004t0076others(4): Show | 16 | HG01891.hp2 HG02027.hp1 HG02145.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*964_*967delACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 964 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACA | T | 5 | a0001c0001t0008a0001c0001t0040a0001c0002t0032others(2): Show | 15 | HG00140.hp2 HG00733.hp1 HG01070.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*962_*967delACACAC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 962 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(1): Show |
T | 3 | a0001c0001t0011a0001c0001t0041a0001c0004t0011 | 7 | HG01496.hp1 HG02083.hp2 HG02572.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*960_*967delACACAC others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 960 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(3): Show |
T | 9 | a0001c0001t0005a0001c0001t0025a0001c0002t0005others(6): Show | 22 | HG00099.hp1 HG00597.hp2 HG02148.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*958_*967delACACAC others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 958 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(5): Show |
T | 9 | a0001c0001t0002a0001c0001t0015a0001c0001t0070others(6): Show | 45 | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
3_prime_UTR_variant | MODIFIER | c.*956_*967delACACAC others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 956 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(7): Show |
T | 9 | a0001c0001t0012a0001c0002t0001a0001c0030t0042others(6): Show | 48 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(45): Show |
3_prime_UTR_variant | MODIFIER | c.*954_*967delACACAC others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 954 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(9): Show |
T | 1 | a0001c0006t0046 | 1 | HG03579.hp1 | 3_prime_UTR_variant | MODIFIER | c.*952_*967delACACAC others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 952 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(11): Show |
T | 2 | a0001c0001t0019a0001c0001t0037 | 4 | NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*950_*967delACACAC others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 950 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(15): Show |
T | 1 | a0001c0001t0047 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*946_*967delACACAC others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 946 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179880
|
TCACACAC others(17): Show |
T | 1 | a0002c0024t0074 | 1 | HG01943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*944_*967delACACAC others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 944 | INFO_REALIGN_3_PRIME | chr22 | 41179880 | ||||
chr22:41179882
|
A | C | 4 | a0001c0002t0027a0001c0002t0048a0001c0002t0049others(1): Show | 5 | HG03669.hp1 NA18522.hp2 NA18947.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*926A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 926 | chr22 | 41179882 | |||||
chr22:41179884
|
A | C | 12 | a0001c0002t0020a0001c0002t0027a0001c0002t0029others(9): Show | 17 | HG00323.hp2 HG00639.hp2 HG01516.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*928A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 928 | chr22 | 41179884 | |||||
chr22:41179886
|
A | C | 26 | a0001c0002t0006a0001c0002t0009a0001c0002t0021others(23): Show | 51 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*930A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 930 | chr22 | 41179886 | |||||
chr22:41179888
|
A | C | 25 | a0001c0002t0006a0001c0002t0021a0001c0002t0022others(22): Show | 42 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*932A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 932 | chr22 | 41179888 | |||||
chr22:41179890
|
A | C | 16 | a0001c0002t0021a0001c0002t0022a0001c0002t0023others(13): Show | 25 | HG00323.hp2 HG00639.hp2 HG01257.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*934A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 934 | chr22 | 41179890 | |||||
chr22:41179892
|
A | C | 10 | a0001c0002t0022a0001c0002t0023a0001c0002t0059others(7): Show | 14 | HG00639.hp2 HG01257.hp2 HG01516.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*936A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 936 | chr22 | 41179892 | |||||
chr22:41179894
|
A | C | 3 | a0001c0002t0060a0001c0002t0062a0001c0002t0065 | 3 | HG00639.hp2 NA18948.hp1 NA18955.hp2 |
3_prime_UTR_variant | MODIFIER | c.*938A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 938 | chr22 | 41179894 | |||||
chr22:41179896
|
A | C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*940A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 940 | chr22 | 41179896 | |||||
chr22:41179898
|
A | C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*942A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 942 | chr22 | 41179898 | |||||
chr22:41179900
|
A | C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*944A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 944 | chr22 | 41179900 | |||||
chr22:41179902
|
A | C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*946A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 946 | chr22 | 41179902 | |||||
chr22:41179902
|
ACACACAC others(15): Show |
A | 2 | a0002c0003t0018a0011c0012t0018 | 4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*947_*968delCACACA others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 947 | chr22 | 41179902 | |||||
chr22:41179904
|
A | C | 1 | a0001c0002t0064 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*948A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 948 | chr22 | 41179904 | |||||
chr22:41179922
|
A | G | 1 | a0001c0016t0058 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*966A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 966 | chr22 | 41179922 | |||||
chr22:41179929
|
A | G | 1 | a0001c0002t0054 | 1 | NA19012.hp2 | 3_prime_UTR_variant | MODIFIER | c.*973A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 973 | chr22 | 41179929 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:41093169
|
A | T | 2 | a0001c0002t0021g0300a0001c0002t0055g0299 | 2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.94+71A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093169 | ||||||
chr22:41093184
|
C | T | 1 | a0001c0021t0005g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.94+86C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093184 | ||||||
chr22:41093186
|
C | G | 1 | a0005c0019t0006g0297 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.94+88C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093186 | ||||||
chr22:41093206
|
C | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+108C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093206 | ||||||
chr22:41093358
|
G | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+260G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093358 | ||||||
chr22:41093426
|
A | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+328A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093426 | ||||||
chr22:41093483
|
T | C | 293 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(290): Show | 293 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
intron_variant | MODIFIER | c.94+385T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093483 | ||||||
chr22:41093522
|
C | A | 180 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(177): Show | 180 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(177): Show |
intron_variant | MODIFIER | c.94+424C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093522 | ||||||
chr22:41093689
|
T | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+591T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093689 | ||||||
chr22:41093907
|
A | G | 4 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(1): Show | 4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+809A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093907 | ||||||
chr22:41093916
|
G | A | 255 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(252): Show | 255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.94+818G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41093916 | ||||||
chr22:41094477
|
C | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+1379C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094477 | ||||||
chr22:41094676
|
G | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.94+1578G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094676 | ||||||
chr22:41094805
|
G | C | 2 | a0002c0003t0001g0049a0002c0003t0001g0050 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.94+1707G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094805 | ||||||
chr22:41094922
|
T | C | 2 | a0001c0001t0077g0248a0012c0031t0004g0247 | 2 | HG01069.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.94+1824T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41094922 | ||||||
chr22:41095027
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+1929A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095027 | ||||||
chr22:41095029
|
T | C | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.94+1931T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095029 | ||||||
chr22:41095112
|
C | T | 5 | a0002c0003t0001g0181a0002c0003t0001g0182a0002c0003t0001g0183others(2): Show | 5 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(2): Show |
intron_variant | MODIFIER | c.94+2014C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095112 | ||||||
chr22:41095119
|
T | A | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.94+2021T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095119 | ||||||
chr22:41095232
|
A | AT | 15 | a0001c0002t0006g0119a0001c0002t0006g0122a0001c0002t0006g0125others(12): Show | 15 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(12): Show |
intron_variant | MODIFIER | c.94+2159dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095232
|
A | ATT | 6 | a0001c0005t0016g0135a0001c0005t0075g0134a0002c0003t0001g0131others(3): Show | 6 | HG00323.hp1 HG01069.hp2 HG01993.hp1 others(3): Show |
intron_variant | MODIFIER | c.94+2158_94+2159dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095232
|
A | ATTT | 46 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(43): Show | 46 | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(43): Show |
intron_variant | MODIFIER | c.94+2157_94+2159dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095232
|
A | ATTTT | 7 | a0001c0004t0004g0040a0001c0006t0007g0048a0002c0003t0001g0177others(4): Show | 7 | HG00423.hp2 HG02735.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+2156_94+2159dup others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095232
|
AT | A | 128 | a0001c0001t0002g0207a0001c0001t0002g0208a0001c0001t0002g0209others(125): Show | 128 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show |
intron_variant | MODIFIER | c.94+2159delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095232
|
ATT | A | 10 | a0001c0001t0002g0206a0001c0001t0003g0249a0001c0001t0015g0189others(7): Show | 10 | HG01943.hp2 HG02735.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.94+2158_94+2159del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095232 | |||||
chr22:41095272
|
T | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.94+2174T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095272 | ||||||
chr22:41095548
|
A | AT | 11 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(8): Show | 11 | HG02109.hp1 HG02559.hp1 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.94+2462dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095548 | |||||
chr22:41095548
|
AT | A | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+2462delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41095548 | |||||
chr22:41095558
|
T | C | 1 | a0001c0002t0043g0058 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.94+2460T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095558 | ||||||
chr22:41095772
|
A | T | 27 | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246others(24): Show | 27 | HG00544.hp1 HG00597.hp2 HG01346.hp2 others(24): Show |
intron_variant | MODIFIER | c.94+2674A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095772 | ||||||
chr22:41095798
|
T | C | 293 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(290): Show | 293 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
intron_variant | MODIFIER | c.94+2700T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095798 | ||||||
chr22:41095945
|
T | C | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+2847T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41095945 | ||||||
chr22:41096165
|
A | C | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+3067A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096165 | ||||||
chr22:41096612
|
C | CT | 22 | a0001c0002t0006g0055a0001c0002t0009g0105a0001c0002t0023g0130others(19): Show | 22 | HG00323.hp1 HG00597.hp1 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.94+3537dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | |||||
chr22:41096612
|
CT | C | 90 | a0001c0001t0002g0206a0001c0001t0002g0209a0001c0001t0002g0211others(87): Show | 90 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.94+3537delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | |||||
chr22:41096612
|
CTT | C | 10 | a0001c0001t0002g0207a0001c0001t0002g0208a0001c0006t0003g0044others(7): Show | 10 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.94+3536_94+3537del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41096612 | |||||
chr22:41096639
|
A | G | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.94+3541A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096639 | ||||||
chr22:41096649
|
G | A | 185 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(182): Show | 185 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(182): Show |
intron_variant | MODIFIER | c.94+3551G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096649 | ||||||
chr22:41096654
|
C | T | 1 | a0001c0002t0053g0114 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.94+3556C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096654 | ||||||
chr22:41096705
|
A | G | 1 | a0001c0002t0020g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.94+3607A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096705 | ||||||
chr22:41096806
|
A | G | 1 | a0001c0004t0004g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.94+3708A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096806 | ||||||
chr22:41096866
|
G | A | 2 | a0001c0002t0030g0066a0001c0002t0051g0065 | 2 | NA18988.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.94+3768G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096866 | ||||||
chr22:41096899
|
G | A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+3801G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096899 | ||||||
chr22:41096914
|
C | G | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.94+3816C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41096914 | ||||||
chr22:41097164
|
T | A | 1 | a0001c0023t0004g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.94+4066T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097164 | ||||||
chr22:41097272
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+4174C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097272 | ||||||
chr22:41097372
|
A | T | 1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.94+4274A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097372 | ||||||
chr22:41097440
|
CTTTA | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+4347_94+4350del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097440 | |||||
chr22:41097470
|
C | T | 185 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(182): Show | 185 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(182): Show |
intron_variant | MODIFIER | c.94+4372C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097470 | ||||||
chr22:41097793
|
C | CT | 7 | a0001c0002t0028g0128a0001c0009t0002g0199a0001c0009t0002g0200others(4): Show | 7 | HG00280.hp2 HG01109.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+4705dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097793 | |||||
chr22:41097897
|
T | C | 1 | a0001c0001t0011g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.94+4799T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097897 | ||||||
chr22:41097984
|
G | A | 71 | a0001c0002t0003g0115a0001c0002t0004g0087a0001c0002t0004g0092others(68): Show | 71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.94+4886G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097984 | ||||||
chr22:41097998
|
A | AT | 13 | a0001c0001t0003g0278a0001c0001t0003g0279a0001c0001t0004g0251others(10): Show | 13 | HG00639.hp1 HG01884.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.94+4914dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097998 | |||||
chr22:41097998
|
A | T | 1 | a0001c0002t0009g0127 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.94+4900A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41097998 | ||||||
chr22:41097998
|
AT | A | 37 | a0001c0001t0003g0249a0001c0001t0003g0255a0001c0001t0003g0256others(34): Show | 37 | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.94+4914delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41097998 | |||||
chr22:41098040
|
G | A | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+4942G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098040 | ||||||
chr22:41098093
|
C | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.94+4995C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098093 | ||||||
chr22:41098161
|
A | G | 1 | a0001c0001t0012g0289 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.94+5063A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098161 | ||||||
chr22:41098182
|
C | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5084C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098182 | ||||||
chr22:41098240
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5142A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098240 | ||||||
chr22:41098250
|
C | T | 1 | a0001c0001t0002g0206 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.94+5152C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098250 | ||||||
chr22:41098377
|
G | A | 9 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(6): Show | 9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.94+5279G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098377 | ||||||
chr22:41098425
|
G | A | 1 | a0002c0003t0001g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.94+5327G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098425 | ||||||
chr22:41098434
|
C | T | 1 | a0002c0003t0001g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.94+5336C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098434 | ||||||
chr22:41098464
|
C | T | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.94+5366C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098464 | ||||||
chr22:41098594
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+5496A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098594 | ||||||
chr22:41098921
|
G | A | 4 | a0002c0003t0018g0138a0002c0003t0018g0144a0002c0003t0018g0145others(1): Show | 4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+5823G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098921 | ||||||
chr22:41098990
|
G | A | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+5892G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098990 | ||||||
chr22:41098993
|
C | T | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.94+5895C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41098993 | ||||||
chr22:41099142
|
A | C | 2 | a0001c0001t0024g0283a0001c0001t0024g0284 | 2 | HG01884.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.94+6044A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099142 | ||||||
chr22:41099253
|
A | G | 1 | a0001c0001t0011g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.94+6155A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099253 | ||||||
chr22:41099325
|
G | A | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.94+6227G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099325 | ||||||
chr22:41099506
|
C | T | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.94+6408C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099506 | ||||||
chr22:41099599
|
A | G | 1 | a0001c0021t0005g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.94+6501A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099599 | ||||||
chr22:41099661
|
T | C | 2 | a0001c0001t0008g0253a0001c0001t0008g0254 | 2 | HG00140.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.94+6563T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099661 | ||||||
chr22:41099672
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+6574A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099672 | ||||||
chr22:41099703
|
T | A | 199 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(196): Show | 199 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.94+6605T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099703 | ||||||
chr22:41099869
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+6771C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41099869 | ||||||
chr22:41100155
|
G | A | 1 | a0002c0003t0001g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.94+7057G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100155 | ||||||
chr22:41100515
|
C | T | 1 | a0001c0001t0003g0269 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.94+7417C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100515 | ||||||
chr22:41100516
|
G | A | 2 | a0001c0001t0024g0283a0001c0001t0024g0284 | 2 | HG01884.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.94+7418G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100516 | ||||||
chr22:41100584
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+7486G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100584 | ||||||
chr22:41100613
|
T | C | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.94+7515T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100613 | ||||||
chr22:41100640
|
CTATT | C | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.94+7546_94+7549del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41100640 | |||||
chr22:41100690
|
G | T | 2 | a0002c0003t0001g0104a0002c0003t0001g0180 | 2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.94+7592G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100690 | ||||||
chr22:41100796
|
G | A | 50 | a0002c0003t0001g0049a0002c0003t0001g0050a0002c0003t0001g0104others(47): Show | 50 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.94+7698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100796 | ||||||
chr22:41100842
|
A | G | 68 | a0001c0002t0001g0103a0001c0002t0004g0087a0001c0002t0004g0092others(65): Show | 68 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.94+7744A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100842 | ||||||
chr22:41100911
|
C | T | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+7813C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41100911 | ||||||
chr22:41101080
|
TTTC | T | 3 | a0001c0007t0066g0194a0001c0007t0067g0192a0008c0014t0068g0193 | 3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.94+7988_94+7990del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101080 | |||||
chr22:41101155
|
G | T | 9 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(6): Show | 9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.94+8057G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101155 | ||||||
chr22:41101189
|
C | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+8091C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101189 | ||||||
chr22:41101230
|
A | G | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.94+8132A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101230 | ||||||
chr22:41101273
|
C | G | 2 | a0001c0001t0015g0196a0001c0028t0015g0197 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.94+8175C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101273 | ||||||
chr22:41101299
|
T | A | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.94+8201T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101299 | ||||||
chr22:41101315
|
C | T | 4 | a0001c0001t0019g0204a0001c0001t0019g0205a0001c0001t0019g0235others(1): Show | 4 | NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+8217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101315 | ||||||
chr22:41101414
|
C | CT | 16 | a0001c0002t0057g0100a0001c0002t0069g0064a0001c0006t0003g0044others(13): Show | 16 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.94+8331dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101414 | |||||
chr22:41101414
|
CT | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.94+8331delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41101414 | |||||
chr22:41101572
|
C | T | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.94+8474C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101572 | ||||||
chr22:41101604
|
G | T | 8 | a0001c0001t0002g0207a0001c0001t0002g0208a0001c0001t0002g0229others(5): Show | 8 | NA18947.hp2 NA18964.hp1 NA18970.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+8506G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101604 | ||||||
chr22:41101781
|
C | T | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.94+8683C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101781 | ||||||
chr22:41101813
|
G | A | 1 | a0006c0017t0006g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.94+8715G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41101813 | ||||||
chr22:41102029
|
C | CT | 57 | a0001c0002t0009g0126a0001c0002t0013g0166a0001c0002t0014g0141others(54): Show | 57 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.94+8948dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41102029 | |||||
chr22:41102029
|
CT | C | 21 | a0001c0001t0002g0207a0001c0001t0005g0270a0001c0001t0015g0189others(18): Show | 21 | HG02109.hp1 HG02486.hp1 HG02630.hp2 others(18): Show |
intron_variant | MODIFIER | c.94+8948delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41102029 | |||||
chr22:41102047
|
A | G | 1 | a0001c0007t0066g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.94+8949A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102047 | ||||||
chr22:41102059
|
A | T | 1 | a0002c0003t0001g0162 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.94+8961A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102059 | ||||||
chr22:41102320
|
C | T | 1 | a0001c0002t0064g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.94+9222C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102320 | ||||||
chr22:41102417
|
C | T | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.94+9319C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102417 | ||||||
chr22:41102423
|
A | G | 1 | a0001c0001t0002g0228 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.94+9325A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102423 | ||||||
chr22:41102583
|
G | A | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.94+9485G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102583 | ||||||
chr22:41102623
|
G | A | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.94+9525G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41102623 | ||||||
chr22:41103040
|
G | A | 1 | a0001c0001t0003g0255 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.94+9942G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103040 | ||||||
chr22:41103222
|
G | A | 3 | a0001c0001t0002g0209a0001c0001t0002g0237a0001c0001t0005g0210 | 3 | HG00099.hp1 HG01433.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.94+10124G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103222 | ||||||
chr22:41103261
|
T | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.94+10163T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103261 | ||||||
chr22:41103361
|
T | C | 1 | a0002c0003t0001g0147 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.94+10263T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103361 | ||||||
chr22:41103544
|
T | C | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.94+10446T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103544 | ||||||
chr22:41103805
|
A | G | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.94+10707A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103805 | ||||||
chr22:41103818
|
G | A | 2 | a0001c0001t0003g0249a0001c0001t0003g0255 | 2 | HG01517.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.94+10720G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41103818 | ||||||
chr22:41103967
|
T | TC | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.94+10871dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41103967 | |||||
chr22:41104104
|
G | T | 2 | a0001c0002t0032g0101a0001c0002t0032g0102 | 2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.94+11006G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104104 | ||||||
chr22:41104296
|
G | GT | 6 | a0001c0002t0020g0099a0001c0009t0002g0199a0001c0009t0002g0200others(3): Show | 6 | HG01109.hp2 HG02602.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.94+11209dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41104296 | |||||
chr22:41104296
|
G | T | 2 | a0001c0001t0012g0295a0001c0002t0064g0053 | 2 | HG01433.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.94+11198G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104296 | ||||||
chr22:41104570
|
G | A | 1 | a0002c0003t0001g0148 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.94+11472G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104570 | ||||||
chr22:41104582
|
G | A | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.94+11484G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104582 | ||||||
chr22:41104693
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.94+11595C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104693 | ||||||
chr22:41104762
|
G | A | 1 | a0001c0002t0006g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.94+11664G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41104762 | ||||||
chr22:41105081
|
C | T | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+11983C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105081 | ||||||
chr22:41105095
|
G | C | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.94+11997G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105095 | ||||||
chr22:41105198
|
G | GA | 23 | a0001c0001t0002g0209a0001c0001t0002g0211a0001c0001t0002g0212others(20): Show | 23 | HG00642.hp1 HG01106.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.95-11966dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | |||||
chr22:41105198
|
GA | G | 16 | a0001c0002t0014g0141a0001c0002t0032g0101a0001c0009t0002g0199others(13): Show | 16 | HG00597.hp1 HG00642.hp2 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.95-11966delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | |||||
chr22:41105198
|
GAA | G | 60 | a0001c0002t0003g0115a0001c0002t0005g0018a0001c0002t0009g0074others(57): Show | 60 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(57): Show |
intron_variant | MODIFIER | c.95-11967_95-11966d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | |||||
chr22:41105198
|
GAAA | G | 110 | a0001c0002t0001g0103a0001c0002t0004g0087a0001c0002t0004g0092others(107): Show | 110 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.95-11968_95-11966d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105198 | |||||
chr22:41105200
|
A | G | 13 | a0001c0002t0014g0141a0001c0002t0032g0101a0002c0003t0001g0148others(10): Show | 13 | HG00597.hp1 HG00642.hp2 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-11987A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105200 | ||||||
chr22:41105201
|
A | G | 45 | a0001c0002t0013g0166a0001c0002t0014g0164a0001c0002t0014g0165others(42): Show | 45 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(42): Show |
intron_variant | MODIFIER | c.95-11986A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105201 | ||||||
chr22:41105219
|
A | G | 1 | a0001c0001t0011g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.95-11968A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105219 | ||||||
chr22:41105246
|
T | C | 1 | a0001c0002t0027g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95-11941T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105246 | ||||||
chr22:41105261
|
G | A | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-11926G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105261 | ||||||
chr22:41105296
|
A | C | 1 | a0001c0001t0011g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.95-11891A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105296 | ||||||
chr22:41105354
|
C | CA | 187 | a0001c0001t0002g0244a0001c0001t0015g0189a0001c0001t0015g0195others(184): Show | 187 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.95-11820dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105354 | |||||
chr22:41105354
|
C | CAA | 9 | a0001c0002t0023g0077a0001c0004t0003g0003a0001c0004t0003g0005others(6): Show | 9 | HG02683.hp1 HG02723.hp2 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-11821_95-11820d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105354 | |||||
chr22:41105380
|
A | G | 1 | a0001c0002t0023g0077 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.95-11807A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105380 | ||||||
chr22:41105393
|
TTTTG | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-11782_95-11779d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41105393 | |||||
chr22:41105496
|
T | G | 1 | a0001c0011t0031g0190 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.95-11691T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105496 | ||||||
chr22:41105649
|
G | C | 140 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(137): Show | 140 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.95-11538G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105649 | ||||||
chr22:41105802
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-11385A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41105802 | ||||||
chr22:41106174
|
T | G | 2 | a0001c0002t0009g0127a0001c0002t0048g0120 | 2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.95-11013T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106174 | ||||||
chr22:41106216
|
A | G | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-10971A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106216 | ||||||
chr22:41106341
|
T | C | 1 | a0001c0002t0030g0060 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.95-10846T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106341 | ||||||
chr22:41106493
|
C | G | 1 | a0001c0002t0022g0098 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.95-10694C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106493 | ||||||
chr22:41106551
|
C | G | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-10636C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106551 | ||||||
chr22:41106633
|
T | C | 1 | a0001c0001t0003g0259 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.95-10554T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106633 | ||||||
chr22:41106770
|
A | AT | 299 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(296): Show | 299 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
intron_variant | MODIFIER | c.95-10410dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41106770 | |||||
chr22:41106821
|
T | G | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.95-10366T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106821 | ||||||
chr22:41106918
|
A | G | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-10269A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106918 | ||||||
chr22:41106990
|
T | C | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.95-10197T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41106990 | ||||||
chr22:41107372
|
A | G | 2 | a0001c0002t0021g0300a0001c0002t0055g0299 | 2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.95-9815A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107372 | ||||||
chr22:41107422
|
T | TA | 8 | a0001c0001t0002g0211a0001c0001t0003g0249a0001c0001t0003g0255others(5): Show | 8 | HG00733.hp1 HG01517.hp2 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.95-9751dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107422 | |||||
chr22:41107422
|
TA | T | 189 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(186): Show | 189 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(186): Show |
intron_variant | MODIFIER | c.95-9751delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107422 | |||||
chr22:41107698
|
G | A | 4 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0004g0016others(1): Show | 4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-9489G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107698 | ||||||
chr22:41107730
|
G | A | 1 | a0001c0001t0025g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.95-9457G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107730 | ||||||
chr22:41107769
|
C | T | 1 | a0001c0002t0003g0115 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.95-9418C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107769 | ||||||
chr22:41107793
|
T | A | 5 | a0001c0001t0002g0211a0001c0001t0002g0213a0001c0001t0002g0214others(2): Show | 5 | HG00558.hp2 NA18612.hp2 NA18943.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-9394T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107793 | ||||||
chr22:41107803
|
C | T | 3 | a0002c0003t0001g0104a0002c0003t0001g0161a0002c0003t0001g0180 | 3 | HG01346.hp1 HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-9384C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107803 | ||||||
chr22:41107904
|
G | A | 5 | a0001c0002t0022g0069a0001c0002t0022g0098a0001c0002t0056g0078others(2): Show | 5 | HG02083.hp1 NA18960.hp2 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.95-9283G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41107904 | ||||||
chr22:41107908
|
TAGTC | T | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.95-9276_95-9273del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41107908 | |||||
chr22:41108006
|
G | A | 1 | a0001c0002t0027g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.95-9181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108006 | ||||||
chr22:41108043
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-9144T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108043 | ||||||
chr22:41108045
|
C | G | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.95-9142C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108045 | ||||||
chr22:41108087
|
T | TC | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-9099dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108087 | |||||
chr22:41108244
|
C | CT | 21 | a0001c0001t0002g0215a0001c0001t0002g0227a0001c0001t0002g0234others(18): Show | 21 | HG00408.hp2 HG01106.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.95-8921dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | |||||
chr22:41108244
|
CT | C | 23 | a0001c0001t0002g0208a0001c0001t0019g0205a0001c0002t0009g0079others(20): Show | 23 | HG00738.hp1 HG01081.hp2 HG01257.hp1 others(20): Show |
intron_variant | MODIFIER | c.95-8921delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | |||||
chr22:41108244
|
CTTTT | C | 36 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(33): Show | 36 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.95-8924_95-8921del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | |||||
chr22:41108244
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0007g0286 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.95-8933_95-8921del others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41108244 | |||||
chr22:41108249
|
T | TC | 8 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(5): Show | 8 | HG01891.hp2 HG02145.hp2 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-8938_95-8937ins others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108249 | ||||||
chr22:41108251
|
T | C | 3 | a0001c0007t0066g0194a0001c0007t0067g0192a0008c0014t0068g0193 | 3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.95-8936T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108251 | ||||||
chr22:41108287
|
C | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-8900C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108287 | ||||||
chr22:41108420
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-8767C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108420 | ||||||
chr22:41108421
|
G | A | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-8766G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108421 | ||||||
chr22:41108456
|
C | T | 1 | a0002c0024t0074g0160 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.95-8731C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108456 | ||||||
chr22:41108488
|
A | G | 1 | a0002c0003t0001g0159 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.95-8699A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108488 | ||||||
chr22:41108590
|
C | T | 2 | a0001c0001t0015g0196a0001c0028t0015g0197 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.95-8597C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41108590 | ||||||
chr22:41109253
|
C | CA | 110 | a0001c0001t0007g0287a0001c0001t0037g0243a0001c0002t0001g0103others(107): Show | 110 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.95-7919dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | |||||
chr22:41109253
|
C | CAA | 60 | a0001c0001t0041g0187a0001c0002t0003g0115a0001c0002t0009g0074others(57): Show | 60 | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.95-7920_95-7919dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | |||||
chr22:41109253
|
C | CAAA | 11 | a0001c0002t0005g0020a0001c0002t0032g0101a0001c0006t0010g0042others(8): Show | 11 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(8): Show |
intron_variant | MODIFIER | c.95-7921_95-7919dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41109253 | |||||
chr22:41109268
|
A | AAAC | 6 | a0002c0003t0001g0146a0002c0003t0001g0161a0002c0003t0013g0150others(3): Show | 6 | HG00597.hp1 HG01099.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.95-7919_95-7918ins others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109268 | ||||||
chr22:41109269
|
C | A | 9 | a0001c0001t0015g0195a0001c0001t0015g0196a0001c0005t0016g0106others(6): Show | 9 | HG00597.hp1 HG01099.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-7918C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109269 | ||||||
chr22:41109273
|
A | C | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-7914A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109273 | ||||||
chr22:41109318
|
C | T | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.95-7869C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109318 | ||||||
chr22:41109489
|
A | C | 1 | a0001c0016t0058g0096 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.95-7698A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109489 | ||||||
chr22:41109511
|
A | G | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95-7676A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109511 | ||||||
chr22:41109549
|
T | C | 1 | a0001c0002t0069g0064 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.95-7638T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109549 | ||||||
chr22:41109668
|
C | T | 1 | a0001c0002t0009g0051 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.95-7519C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109668 | ||||||
chr22:41109825
|
A | G | 1 | a0001c0006t0007g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.95-7362A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109825 | ||||||
chr22:41109830
|
C | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-7357C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109830 | ||||||
chr22:41109851
|
T | C | 1 | a0002c0003t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.95-7336T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109851 | ||||||
chr22:41109970
|
C | T | 2 | a0002c0003t0001g0181a0010c0026t0001g0185 | 2 | HG00597.hp1 HG00609.hp1 |
intron_variant | MODIFIER | c.95-7217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41109970 | ||||||
chr22:41110117
|
G | GC | 74 | a0001c0001t0004g0257a0001c0001t0004g0280a0001c0001t0007g0286others(71): Show | 74 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(71): Show |
intron_variant | MODIFIER | c.95-7059dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | |||||
chr22:41110117
|
G | GCC | 61 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0002t0001g0103others(58): Show | 61 | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.95-7060_95-7059dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | |||||
chr22:41110117
|
G | GCCC | 35 | a0001c0001t0015g0196a0001c0002t0006g0063a0001c0002t0006g0082others(32): Show | 35 | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(32): Show |
intron_variant | MODIFIER | c.95-7061_95-7059dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | |||||
chr22:41110117
|
GC | G | 55 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(52): Show | 55 | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(52): Show |
intron_variant | MODIFIER | c.95-7059delC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110117 | |||||
chr22:41110282
|
A | AT | 25 | a0001c0001t0002g0207a0001c0001t0002g0212a0001c0001t0002g0223others(22): Show | 25 | HG00408.hp1 HG00735.hp1 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.95-6867dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATT | 7 | a0001c0001t0004g0257a0001c0001t0008g0262a0001c0001t0011g0252others(4): Show | 7 | HG02572.hp2 HG02622.hp1 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.95-6868_95-6867dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATTTTTTT others(3): Show |
1 | a0001c0001t0002g0234 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.95-6876_95-6867dup others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATTTTTTT others(5): Show |
1 | a0001c0004t0004g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.95-6878_95-6867dup others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATTTTTTT others(6): Show |
1 | a0001c0004t0003g0003 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95-6879_95-6867dup others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATTTTTTT others(8): Show |
1 | a0001c0004t0003g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.95-6881_95-6867dup others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
A | ATTTTTTT others(9): Show |
1 | a0001c0004t0026g0004 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.95-6882_95-6867dup others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
AT | A | 18 | a0001c0001t0002g0211a0001c0001t0002g0215a0001c0001t0002g0228others(15): Show | 18 | HG00099.hp1 HG00642.hp1 HG01169.hp2 others(15): Show |
intron_variant | MODIFIER | c.95-6867delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATT | A | 20 | a0001c0001t0002g0206a0001c0001t0002g0213a0001c0001t0002g0214others(17): Show | 20 | HG01106.hp1 HG01109.hp2 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.95-6868_95-6867del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTT | A | 15 | a0001c0001t0002g0219a0001c0001t0002g0240a0001c0001t0002g0244others(12): Show | 15 | HG00558.hp2 HG01099.hp1 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.95-6869_95-6867del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTT | A | 22 | a0001c0001t0007g0288a0001c0001t0008g0241a0001c0005t0016g0110others(19): Show | 22 | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.95-6870_95-6867del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTT | A | 40 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0002t0013g0166others(37): Show | 40 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(37): Show |
intron_variant | MODIFIER | c.95-6871_95-6867del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTT | A | 13 | a0001c0001t0011g0271a0001c0002t0003g0115a0001c0002t0014g0167others(10): Show | 13 | HG00423.hp2 HG00738.hp1 HG01496.hp1 others(10): Show |
intron_variant | MODIFIER | c.95-6872_95-6867del others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTTT | A | 9 | a0001c0002t0020g0099a0001c0002t0032g0101a0001c0005t0016g0135others(6): Show | 9 | HG02257.hp2 HG02486.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.95-6873_95-6867del others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTTT others(1): Show |
A | 16 | a0001c0002t0004g0087a0001c0002t0004g0092a0001c0002t0006g0125others(13): Show | 16 | HG00408.hp2 HG00673.hp1 HG00673.hp2 others(13): Show |
intron_variant | MODIFIER | c.95-6874_95-6867del others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTTT others(2): Show |
A | 48 | a0001c0002t0004g0097a0001c0002t0005g0070a0001c0002t0006g0055others(45): Show | 48 | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.95-6875_95-6867del others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTTT others(3): Show |
A | 6 | a0001c0002t0001g0103a0001c0002t0027g0116a0001c0002t0030g0060others(3): Show | 6 | HG00323.hp2 HG00639.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-6876_95-6867del others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110282
|
ATTTTTTT others(15): Show |
A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-6888_95-6867del others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110282 | |||||
chr22:41110373
|
A | G | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-6814A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110373 | ||||||
chr22:41110428
|
G | A | 1 | a0002c0003t0001g0156 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.95-6759G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110428 | ||||||
chr22:41110650
|
C | T | 1 | a0001c0004t0003g0010 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.95-6537C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110650 | ||||||
chr22:41110686
|
G | A | 3 | a0001c0001t0024g0277a0001c0001t0024g0283a0001c0001t0024g0284 | 3 | HG01884.hp2 HG02258.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.95-6501G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110686 | ||||||
chr22:41110959
|
CT | C | 99 | a0001c0001t0008g0241a0001c0001t0019g0204a0001c0002t0001g0103others(96): Show | 99 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
intron_variant | MODIFIER | c.95-6211delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110959 | |||||
chr22:41110971
|
T | G | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-6216T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110971 | ||||||
chr22:41110976
|
TA | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-6208delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41110976 | |||||
chr22:41110977
|
A | T | 7 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(4): Show | 7 | HG01099.hp1 HG01346.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.95-6210A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41110977 | ||||||
chr22:41111014
|
G | A | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-6173G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111014 | ||||||
chr22:41111039
|
C | T | 1 | a0001c0005t0017g0112 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.95-6148C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111039 | ||||||
chr22:41111089
|
C | T | 1 | a0001c0002t0006g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.95-6098C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111089 | ||||||
chr22:41111102
|
A | G | 3 | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246 | 3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.95-6085A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111102 | ||||||
chr22:41111135
|
T | A | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.95-6052T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111135 | ||||||
chr22:41111396
|
A | G | 183 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(180): Show | 183 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(180): Show |
intron_variant | MODIFIER | c.95-5791A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111396 | ||||||
chr22:41111519
|
CTTCCTTT | C | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-5657_95-5651del others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111519 | |||||
chr22:41111853
|
T | A | 1 | a0001c0002t0009g0093 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.95-5334T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111853 | ||||||
chr22:41111876
|
C | CT | 17 | a0001c0001t0002g0206a0001c0001t0002g0209a0001c0001t0002g0212others(14): Show | 17 | HG00099.hp1 HG00558.hp2 HG01433.hp1 others(14): Show |
intron_variant | MODIFIER | c.95-5282dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
C | CTT | 13 | a0001c0001t0002g0211a0001c0001t0002g0219a0001c0001t0002g0228others(10): Show | 13 | HG00642.hp1 HG01261.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-5283_95-5282dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
C | CTTT | 9 | a0001c0001t0002g0217a0001c0001t0002g0222a0001c0001t0002g0224others(6): Show | 9 | HG00544.hp2 HG01346.hp2 HG02165.hp1 others(6): Show |
intron_variant | MODIFIER | c.95-5284_95-5282dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CT | C | 30 | a0001c0001t0003g0249a0001c0001t0003g0255a0001c0001t0003g0256others(27): Show | 30 | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.95-5282delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTT | C | 17 | a0001c0001t0015g0196a0001c0002t0013g0166a0001c0002t0014g0165others(14): Show | 17 | HG00280.hp2 HG01109.hp1 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.95-5283_95-5282del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTTT | C | 60 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0025g0188others(57): Show | 60 | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.95-5284_95-5282del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTTTT | C | 61 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(58): Show | 61 | HG00597.hp2 HG00738.hp1 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.95-5285_95-5282del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTTTTT | C | 61 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(58): Show | 61 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.95-5286_95-5282del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0019g0235 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.95-5297_95-5282del others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111876
|
CTTTTTTT others(10): Show |
C | 1 | a0001c0004t0003g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.95-5298_95-5282del others(17): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41111876 | |||||
chr22:41111951
|
G | A | 1 | a0002c0003t0001g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.95-5236G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111951 | ||||||
chr22:41111954
|
G | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.95-5233G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111954 | ||||||
chr22:41111962
|
A | C | 1 | a0001c0007t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.95-5225A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41111962 | ||||||
chr22:41112079
|
G | A | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.95-5108G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112079 | ||||||
chr22:41112081
|
G | A | 4 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0004g0016others(1): Show | 4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-5106G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112081 | ||||||
chr22:41112130
|
C | T | 1 | a0001c0002t0022g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.95-5057C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112130 | ||||||
chr22:41112220
|
C | T | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.95-4967C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112220 | ||||||
chr22:41112255
|
TCTCTGCT others(9): Show |
T | 2 | a0002c0003t0001g0104a0002c0003t0001g0180 | 2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-4923_95-4908del others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41112255 | |||||
chr22:41112294
|
G | A | 2 | a0002c0003t0001g0104a0002c0003t0001g0180 | 2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95-4893G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112294 | ||||||
chr22:41112343
|
C | T | 4 | a0001c0002t0009g0091a0001c0002t0009g0093a0001c0002t0009g0094others(1): Show | 4 | NA18943.hp1 NA18968.hp2 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.95-4844C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112343 | ||||||
chr22:41112389
|
T | C | 1 | a0001c0002t0005g0020 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.95-4798T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112389 | ||||||
chr22:41112389
|
T | G | 198 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(195): Show | 198 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.95-4798T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112389 | ||||||
chr22:41112410
|
G | T | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.95-4777G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112410 | ||||||
chr22:41112472
|
T | G | 1 | a0001c0007t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.95-4715T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112472 | ||||||
chr22:41112521
|
T | C | 3 | a0001c0004t0007g0039a0001c0004t0008g0026a0001c0004t0010g0036 | 3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.95-4666T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112521 | ||||||
chr22:41112609
|
T | C | 8 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(5): Show | 8 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-4578T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112609 | ||||||
chr22:41112706
|
A | ATTAT | 232 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(229): Show | 232 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.95-4479_95-4478ins others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41112706 | |||||
chr22:41112708
|
T | TATTTG | 20 | a0001c0006t0003g0044a0001c0006t0007g0045a0001c0006t0007g0048others(17): Show | 20 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.95-4479_95-4478ins others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112708 | ||||||
chr22:41112709
|
G | A | 1 | a0001c0001t0015g0195 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.95-4478G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112709 | ||||||
chr22:41112709
|
G | T | 22 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(19): Show | 22 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.95-4478G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41112709 | ||||||
chr22:41113106
|
C | T | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-4081C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113106 | ||||||
chr22:41113157
|
A | ACC | 62 | a0001c0001t0015g0189a0001c0001t0025g0188a0001c0001t0041g0187others(59): Show | 62 | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(59): Show |
intron_variant | MODIFIER | c.95-4021_95-4020dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | |||||
chr22:41113157
|
A | ACCC | 24 | a0001c0001t0015g0195a0001c0002t0006g0125a0001c0002t0009g0079others(21): Show | 24 | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.95-4022_95-4020dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | |||||
chr22:41113157
|
A | ACCCC | 48 | a0001c0001t0015g0196a0001c0002t0005g0018a0001c0002t0005g0020others(45): Show | 48 | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.95-4023_95-4020dup others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | |||||
chr22:41113157
|
A | ACCCCC | 39 | a0001c0002t0014g0167a0001c0002t0059g0129a0001c0004t0002g0033others(36): Show | 39 | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.95-4024_95-4020dup others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | |||||
chr22:41113157
|
A | ACCCCCC | 24 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(21): Show | 24 | HG00423.hp2 HG00738.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.95-4025_95-4020dup others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41113157 | |||||
chr22:41113170
|
C | A | 2 | a0001c0001t0015g0196a0001c0028t0015g0197 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.95-4017C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113170 | ||||||
chr22:41113608
|
G | A | 5 | a0001c0002t0014g0141a0001c0002t0014g0164a0001c0002t0014g0165others(2): Show | 5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-3579G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113608 | ||||||
chr22:41113638
|
C | G | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.95-3549C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113638 | ||||||
chr22:41113748
|
G | A | 2 | a0002c0003t0013g0136a0002c0003t0013g0174 | 2 | HG00323.hp1 HG00733.hp2 |
intron_variant | MODIFIER | c.95-3439G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41113748 | ||||||
chr22:41114039
|
A | AATTGCAA others(6): Show |
1 | a0001c0002t0005g0018 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.95-3147_95-3135dup others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41114039 | |||||
chr22:41114175
|
G | T | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.95-3012G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114175 | ||||||
chr22:41114221
|
A | G | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.95-2966A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114221 | ||||||
chr22:41114286
|
A | G | 1 | a0002c0003t0001g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.95-2901A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114286 | ||||||
chr22:41114296
|
C | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-2891C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114296 | ||||||
chr22:41114356
|
A | G | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.95-2831A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114356 | ||||||
chr22:41114383
|
A | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95-2804A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114383 | ||||||
chr22:41114414
|
C | T | 1 | a0002c0003t0018g0144 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.95-2773C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114414 | ||||||
chr22:41114463
|
C | G | 1 | a0001c0001t0005g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.95-2724C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114463 | ||||||
chr22:41114473
|
C | T | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-2714C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114473 | ||||||
chr22:41114655
|
A | G | 4 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(1): Show | 4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-2532A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41114655 | ||||||
chr22:41114824
|
G | GA | 197 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(194): Show | 197 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.95-2352dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41114824 | |||||
chr22:41115167
|
T | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.95-2020T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115167 | ||||||
chr22:41115172
|
G | A | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.95-2015G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115172 | ||||||
chr22:41115263
|
A | G | 1 | a0001c0002t0045g0075 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.95-1924A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115263 | ||||||
chr22:41115273
|
G | A | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.95-1914G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115273 | ||||||
chr22:41115307
|
C | T | 1 | a0006c0017t0006g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.95-1880C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115307 | ||||||
chr22:41115565
|
TAGG | T | 3 | a0001c0001t0002g0221a0001c0001t0002g0228a0001c0001t0002g0239 | 3 | HG00642.hp1 HG01261.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.95-1619_95-1617del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41115565 | |||||
chr22:41115586
|
C | T | 1 | a0001c0002t0027g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95-1601C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115586 | ||||||
chr22:41115597
|
C | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-1590C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115597 | ||||||
chr22:41115733
|
G | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.95-1454G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115733 | ||||||
chr22:41115794
|
G | A | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-1393G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115794 | ||||||
chr22:41115918
|
A | G | 1 | a0001c0002t0029g0124 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.95-1269A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115918 | ||||||
chr22:41115952
|
G | C | 4 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(1): Show | 4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.95-1235G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115952 | ||||||
chr22:41115957
|
A | C | 5 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(2): Show | 5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.95-1230A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41115957 | ||||||
chr22:41116184
|
A | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95-1003A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116184 | ||||||
chr22:41116192
|
A | G | 1 | a0001c0002t0054g0088 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.95-995A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116192 | ||||||
chr22:41116202
|
CATT | C | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.95-981_95-979delAT others(1): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | 41116202 | |||||
chr22:41116220
|
T | C | 1 | a0001c0002t0006g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.95-967T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116220 | ||||||
chr22:41116454
|
C | T | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.95-733C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116454 | ||||||
chr22:41116472
|
C | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.95-715C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116472 | ||||||
chr22:41116605
|
G | A | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.95-582G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116605 | ||||||
chr22:41116712
|
T | C | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.95-475T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116712 | ||||||
chr22:41116742
|
G | A | 11 | a0001c0004t0003g0021a0001c0004t0003g0022a0001c0004t0003g0027others(8): Show | 11 | HG00544.hp1 HG02056.hp2 NA18948.hp2 others(8): Show |
intron_variant | MODIFIER | c.95-445G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116742 | ||||||
chr22:41116985
|
G | A | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.95-202G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41116985 | ||||||
chr22:41117015
|
C | T | 3 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241 | 3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.95-172C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117015 | ||||||
chr22:41117090
|
G | T | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.95-97G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117090 | ||||||
chr22:41117130
|
A | G | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-57A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117130 | ||||||
chr22:41117131
|
G | T | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.95-56G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117131 | ||||||
chr22:41117171
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.95-16T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | chr22 | 41117171 | ||||||
chr22:41118081
|
A | G | 1 | a0001c0009t0002g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.729+260A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118081 | ||||||
chr22:41118134
|
A | T | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+313A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118134 | ||||||
chr22:41118135
|
T | A | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+314T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118135 | ||||||
chr22:41118147
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.729+326C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118147 | ||||||
chr22:41118151
|
G | A | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.729+330G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118151 | ||||||
chr22:41118199
|
G | C | 1 | a0001c0002t0009g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.729+378G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118199 | ||||||
chr22:41118228
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.729+407A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118228 | ||||||
chr22:41118297
|
A | G | 5 | a0001c0004t0033g0002a0001c0004t0033g0025a0001c0004t0034g0030others(2): Show | 5 | NA18948.hp2 NA18960.hp1 NA18964.hp2 others(2): Show |
intron_variant | MODIFIER | c.729+476A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118297 | ||||||
chr22:41118360
|
A | G | 1 | a0001c0005t0075g0134 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.729+539A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118360 | ||||||
chr22:41118442
|
T | C | 1 | a0001c0001t0011g0273 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.729+621T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118442 | ||||||
chr22:41118698
|
G | T | 1 | a0001c0001t0010g0267 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.729+877G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118698 | ||||||
chr22:41118798
|
A | G | 4 | a0001c0002t0020g0099a0001c0002t0030g0060a0001c0002t0063g0089others(1): Show | 4 | HG00323.hp2 HG00639.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.729+977A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118798 | ||||||
chr22:41118807
|
AAAAG | A | 189 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(186): Show | 189 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(186): Show |
intron_variant | MODIFIER | c.729+989_729+992del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41118807 | |||||
chr22:41118811
|
G | A | 1 | a0001c0002t0030g0066 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.729+990G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118811 | ||||||
chr22:41118813
|
A | C | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+992A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118813 | ||||||
chr22:41118890
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.729+1069A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118890 | ||||||
chr22:41118976
|
C | T | 2 | a0001c0001t0015g0196a0001c0028t0015g0197 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.729+1155C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41118976 | ||||||
chr22:41119004
|
C | CT | 58 | a0001c0002t0005g0018a0001c0002t0009g0126a0001c0002t0021g0052others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.729+1199dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119004 | |||||
chr22:41119004
|
C | CTT | 10 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(7): Show | 10 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+1198_729+1199d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119004 | |||||
chr22:41119158
|
A | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+1337A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119158 | ||||||
chr22:41119166
|
C | CTTATTA | 134 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(131): Show | 134 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.729+1351_729+1356d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119166 | |||||
chr22:41119166
|
CTTA | C | 3 | a0001c0007t0066g0194a0001c0007t0067g0192a0008c0014t0068g0193 | 3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.729+1354_729+1356d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119166 | |||||
chr22:41119172
|
A | AT | 28 | a0001c0001t0002g0245a0001c0001t0003g0249a0001c0001t0003g0255others(25): Show | 28 | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(25): Show |
intron_variant | MODIFIER | c.729+1353dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | |||||
chr22:41119172
|
A | ATT | 39 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(36): Show | 39 | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.729+1352_729+1353d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | |||||
chr22:41119172
|
A | ATTT | 4 | a0001c0001t0002g0228a0001c0001t0002g0234a0001c0001t0007g0286others(1): Show | 4 | HG01261.hp1 HG02257.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.729+1353_729+1354i others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | |||||
chr22:41119172
|
A | ATTTT | 5 | a0001c0001t0002g0211a0001c0001t0007g0287a0001c0001t0007g0288others(2): Show | 5 | HG01099.hp1 HG02258.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.729+1353_729+1354i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | |||||
chr22:41119172
|
A | T | 1 | a0001c0001t0002g0219 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.729+1351A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119172 | ||||||
chr22:41119172
|
ATTATTTT others(4): Show |
A | 1 | a0003c0008t0005g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.729+1354_729+1364d others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119172 | |||||
chr22:41119175
|
A | T | 90 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(87): Show | 90 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.729+1354A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119175 | ||||||
chr22:41119176
|
T | TA | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1355_729+1356i others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119176 | ||||||
chr22:41119176
|
T | TTATTA | 53 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0006g0125others(50): Show | 53 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.729+1356_729+1357i others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119176 | |||||
chr22:41119177
|
T | TATTA | 4 | a0001c0004t0004g0013a0001c0004t0033g0002a0001c0009t0002g0199others(1): Show | 4 | HG02818.hp1 HG02897.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.729+1356_729+1357i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119177 | ||||||
chr22:41119178
|
T | A | 131 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(128): Show | 131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.729+1357T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119178 | ||||||
chr22:41119179
|
T | A | 51 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0006g0125others(48): Show | 51 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.729+1358T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119179 | ||||||
chr22:41119180
|
T | A | 6 | a0001c0001t0005g0270a0001c0002t0053g0114a0001c0004t0004g0013others(3): Show | 6 | HG02818.hp1 HG02897.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1359T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119180 | ||||||
chr22:41119181
|
T | A | 131 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(128): Show | 131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.729+1360T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119181 | ||||||
chr22:41119182
|
T | A | 44 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0006g0125others(41): Show | 44 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.729+1361T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119182 | ||||||
chr22:41119183
|
T | A | 5 | a0001c0002t0053g0114a0001c0004t0004g0013a0001c0004t0033g0002others(2): Show | 5 | HG02818.hp1 HG02897.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.729+1362T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119183 | ||||||
chr22:41119184
|
T | A | 101 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(98): Show | 101 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.729+1363T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119184 | ||||||
chr22:41119185
|
T | A | 29 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0006g0125others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG00738.hp1 others(26): Show |
intron_variant | MODIFIER | c.729+1364T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119185 | ||||||
chr22:41119186
|
T | A | 8 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(5): Show | 8 | HG02109.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.729+1365T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119186 | ||||||
chr22:41119187
|
T | A | 32 | a0001c0002t0009g0074a0001c0002t0009g0091a0001c0002t0009g0094others(29): Show | 32 | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(29): Show |
intron_variant | MODIFIER | c.729+1366T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119187 | ||||||
chr22:41119188
|
T | A | 7 | a0001c0002t0009g0093a0001c0004t0003g0022a0001c0004t0003g0035others(4): Show | 7 | HG00544.hp1 HG02056.hp2 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.729+1367T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119188 | ||||||
chr22:41119189
|
T | A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.729+1368T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119189 | ||||||
chr22:41119192
|
T | A | 3 | a0001c0001t0015g0196a0001c0001t0041g0187a0001c0028t0015g0197 | 3 | HG02109.hp1 NA18906.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.729+1371T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119192 | ||||||
chr22:41119568
|
C | A | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1747C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119568 | ||||||
chr22:41119577
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+1756G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119577 | ||||||
chr22:41119688
|
TAATTTCT others(6): Show |
T | 9 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(6): Show | 9 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.729+1870_729+1882d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41119688 | |||||
chr22:41119708
|
G | T | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1887G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119708 | ||||||
chr22:41119709
|
T | G | 1 | a0001c0002t0021g0080 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.729+1888T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119709 | ||||||
chr22:41119740
|
T | G | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.729+1919T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119740 | ||||||
chr22:41119875
|
C | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+2054C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41119875 | ||||||
chr22:41120216
|
T | C | 1 | a0001c0002t0005g0070 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.729+2395T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120216 | ||||||
chr22:41120319
|
C | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.729+2498C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120319 | ||||||
chr22:41120498
|
T | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.729+2677T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120498 | ||||||
chr22:41120604
|
A | G | 22 | a0001c0001t0003g0249a0001c0001t0003g0255a0001c0001t0003g0256others(19): Show | 22 | HG00140.hp2 HG00280.hp1 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.729+2783A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120604 | ||||||
chr22:41120769
|
G | A | 1 | a0001c0001t0040g0263 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.729+2948G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41120769 | ||||||
chr22:41121225
|
G | A | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.729+3404G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121225 | ||||||
chr22:41121424
|
A | G | 1 | a0001c0001t0002g0222 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.729+3603A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121424 | ||||||
chr22:41121458
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.729+3637A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121458 | ||||||
chr22:41121662
|
G | A | 1 | a0001c0004t0025g0028 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.729+3841G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121662 | ||||||
chr22:41121751
|
T | C | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.729+3930T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121751 | ||||||
chr22:41121883
|
A | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.730-3981A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121883 | ||||||
chr22:41121899
|
A | G | 290 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(287): Show | 290 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
intron_variant | MODIFIER | c.730-3965A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121899 | ||||||
chr22:41121963
|
A | T | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.730-3901A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121963 | ||||||
chr22:41121972
|
G | T | 1 | a0001c0002t0009g0105 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.730-3892G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121972 | ||||||
chr22:41121984
|
A | G | 1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.730-3880A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41121984 | ||||||
chr22:41122091
|
A | G | 1 | a0001c0002t0020g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.730-3773A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122091 | ||||||
chr22:41122140
|
TTTTC | T | 126 | a0001c0001t0008g0218a0001c0001t0008g0241a0001c0002t0001g0103others(123): Show | 126 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.730-3717_730-3714d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122140 | |||||
chr22:41122141
|
TTTCTTTC | T | 4 | a0001c0002t0006g0119a0001c0002t0010g0057a0001c0002t0022g0086others(1): Show | 4 | HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.730-3717_730-3711d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122141 | |||||
chr22:41122157
|
C | CT | 10 | a0001c0001t0002g0207a0001c0001t0002g0211a0001c0001t0024g0283others(7): Show | 10 | HG01109.hp2 HG01884.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.730-3683dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | |||||
chr22:41122157
|
C | CTTT | 6 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(3): Show | 6 | HG01884.hp1 HG01891.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.730-3685_730-3683d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | |||||
chr22:41122157
|
CT | C | 63 | a0001c0001t0002g0224a0001c0001t0004g0258a0001c0001t0007g0286others(60): Show | 63 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.730-3683delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | |||||
chr22:41122157
|
CTT | C | 117 | a0001c0001t0008g0218a0001c0001t0008g0241a0001c0002t0001g0103others(114): Show | 117 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.730-3684_730-3683d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | |||||
chr22:41122157
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0004t0003g0009 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.730-3695_730-3683d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41122157 | |||||
chr22:41122160
|
T | C | 4 | a0001c0002t0006g0119a0001c0002t0010g0057a0001c0002t0022g0086others(1): Show | 4 | HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.730-3704T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122160 | ||||||
chr22:41122171
|
T | C | 3 | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246 | 3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.730-3693T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122171 | ||||||
chr22:41122222
|
A | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.730-3642A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122222 | ||||||
chr22:41122392
|
C | T | 1 | a0001c0002t0014g0141 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.730-3472C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122392 | ||||||
chr22:41122407
|
C | G | 1 | a0001c0007t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.730-3457C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122407 | ||||||
chr22:41122825
|
T | A | 1 | a0001c0002t0006g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.730-3039T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41122825 | ||||||
chr22:41123020
|
A | G | 1 | a0001c0004t0004g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.730-2844A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123020 | ||||||
chr22:41123304
|
G | A | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.730-2560G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123304 | ||||||
chr22:41123358
|
T | C | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.730-2506T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123358 | ||||||
chr22:41123634
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.730-2230A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123634 | ||||||
chr22:41123686
|
T | C | 1 | a0001c0002t0005g0018 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.730-2178T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123686 | ||||||
chr22:41123756
|
CTTTG | C | 134 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(131): Show | 134 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.730-2103_730-2100d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41123756 | |||||
chr22:41123810
|
A | G | 1 | a0001c0002t0030g0060 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.730-2054A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123810 | ||||||
chr22:41123855
|
C | T | 1 | a0001c0021t0005g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.730-2009C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123855 | ||||||
chr22:41123900
|
A | C | 1 | a0001c0001t0011g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.730-1964A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41123900 | ||||||
chr22:41124209
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.730-1655C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124209 | ||||||
chr22:41124382
|
A | G | 1 | a0001c0002t0053g0114 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.730-1482A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124382 | ||||||
chr22:41124427
|
G | C | 1 | a0001c0002t0063g0089 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.730-1437G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124427 | ||||||
chr22:41124544
|
C | A | 1 | a0001c0007t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.730-1320C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124544 | ||||||
chr22:41124545
|
G | C | 293 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(290): Show | 293 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
intron_variant | MODIFIER | c.730-1319G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124545 | ||||||
chr22:41124685
|
A | C | 1 | a0001c0002t0064g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.730-1179A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124685 | ||||||
chr22:41124695
|
G | A | 1 | a0001c0004t0003g0038 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.730-1169G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124695 | ||||||
chr22:41124725
|
A | G | 1 | a0001c0002t0006g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.730-1139A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124725 | ||||||
chr22:41124726
|
T | C | 1 | a0001c0004t0003g0008 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.730-1138T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124726 | ||||||
chr22:41124744
|
G | A | 1 | a0001c0001t0002g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.730-1120G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124744 | ||||||
chr22:41124841
|
ACT | A | 8 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(5): Show | 8 | HG01099.hp1 HG01496.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.730-1020_730-1019d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41124841 | |||||
chr22:41124976
|
T | G | 1 | a0001c0023t0004g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.730-888T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41124976 | ||||||
chr22:41125112
|
C | CT | 24 | a0001c0001t0002g0212a0001c0001t0002g0219a0001c0001t0002g0221others(21): Show | 24 | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(21): Show |
intron_variant | MODIFIER | c.730-728dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | |||||
chr22:41125112
|
C | CTT | 9 | a0001c0001t0004g0257a0001c0005t0016g0106a0001c0005t0016g0109others(6): Show | 9 | HG01884.hp1 HG02257.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.730-729_730-728dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | |||||
chr22:41125112
|
CT | C | 54 | a0001c0001t0003g0278a0001c0002t0006g0084a0001c0002t0010g0056others(51): Show | 54 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.730-728delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | |||||
chr22:41125112
|
CTTTTTTT others(5): Show |
C | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.730-739_730-728del others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125112 | |||||
chr22:41125428
|
G | GT | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.730-426dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125428 | |||||
chr22:41125428
|
G | T | 17 | a0001c0001t0003g0259a0001c0001t0003g0268a0001c0001t0003g0269others(14): Show | 17 | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(14): Show |
intron_variant | MODIFIER | c.730-436G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125428 | ||||||
chr22:41125428
|
GT | G | 8 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(5): Show | 8 | HG01099.hp1 HG02258.hp2 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.730-426delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125428 | |||||
chr22:41125429
|
T | G | 44 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(41): Show | 44 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.730-435T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125429 | ||||||
chr22:41125553
|
G | A | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.730-311G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125553 | ||||||
chr22:41125581
|
A | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.730-283A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125581 | ||||||
chr22:41125708
|
T | A | 3 | a0001c0004t0007g0039a0001c0004t0008g0026a0001c0004t0010g0036 | 3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.730-156T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125708 | ||||||
chr22:41125713
|
T | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.730-151T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125713 | ||||||
chr22:41125751
|
C | G | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.730-113C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125751 | ||||||
chr22:41125820
|
A | G | 1 | a0006c0017t0006g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.730-44A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | chr22 | 41125820 | ||||||
chr22:41125844
|
CTTTTGTT others(3): Show |
C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.730-18_730-9delTTT others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | 41125844 | |||||
chr22:41126139
|
A | G | 23 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(20): Show | 23 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.906+99A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126139 | ||||||
chr22:41126170
|
G | A | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.906+130G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126170 | ||||||
chr22:41126227
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.906+187A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126227 | ||||||
chr22:41126729
|
C | CT | 45 | a0001c0001t0003g0256a0001c0001t0003g0268a0001c0001t0004g0258others(42): Show | 45 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+721dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
C | CTT | 20 | a0001c0001t0004g0251a0001c0001t0004g0264a0001c0001t0004g0266others(17): Show | 20 | HG00323.hp1 HG00738.hp1 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.906+720_906+721dup others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
C | CTTT | 7 | a0002c0003t0001g0147a0002c0003t0001g0158a0002c0003t0001g0175others(4): Show | 7 | HG00597.hp1 HG00609.hp1 HG01069.hp1 others(4): Show |
intron_variant | MODIFIER | c.906+719_906+721dup others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
C | CTTTTT | 20 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(17): Show | 20 | HG00544.hp2 HG00642.hp1 HG02683.hp2 others(17): Show |
intron_variant | MODIFIER | c.906+717_906+721dup others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
C | CTTTTTT | 15 | a0001c0001t0002g0209a0001c0001t0002g0211a0001c0001t0002g0214others(12): Show | 15 | HG00099.hp1 HG01433.hp1 HG01516.hp2 others(12): Show |
intron_variant | MODIFIER | c.906+716_906+721dup others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
C | CTTTTTTT | 13 | a0001c0001t0002g0215a0001c0001t0002g0222a0001c0001t0002g0223others(10): Show | 13 | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(10): Show |
intron_variant | MODIFIER | c.906+715_906+721dup others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CT | C | 18 | a0001c0001t0008g0274a0001c0001t0015g0195a0001c0001t0041g0187others(15): Show | 18 | HG01070.hp2 HG01934.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.906+721delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTT | C | 23 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0003g0008others(20): Show | 23 | HG00544.hp1 HG00597.hp2 HG02056.hp2 others(20): Show |
intron_variant | MODIFIER | c.906+720_906+721del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTT | C | 7 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0004g0006others(4): Show | 7 | HG02723.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.906+719_906+721del others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTTT | C | 12 | a0001c0005t0016g0110a0001c0005t0017g0111a0001c0006t0003g0044others(9): Show | 12 | HG01109.hp2 HG01891.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.906+718_906+721del others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTTTT | C | 18 | a0001c0002t0005g0070a0001c0002t0006g0063a0001c0002t0009g0121others(15): Show | 18 | HG00323.hp2 HG01175.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.906+717_906+721del others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTTTTT | C | 64 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(61): Show | 64 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(61): Show |
intron_variant | MODIFIER | c.906+716_906+721del others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTTTTTT others(3): Show |
C | 2 | a0001c0001t0007g0286a0001c0001t0007g0287 | 2 | HG02965.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.906+712_906+721del others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126729
|
CTTTTTTT others(6): Show |
C | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.906+709_906+721del others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | 41126729 | |||||
chr22:41126934
|
G | A | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.907-553G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41126934 | ||||||
chr22:41127004
|
A | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.907-483A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127004 | ||||||
chr22:41127036
|
G | A | 4 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0004g0016others(1): Show | 4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.907-451G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127036 | ||||||
chr22:41127116
|
C | T | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.907-371C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127116 | ||||||
chr22:41127200
|
C | G | 1 | a0001c0002t0009g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.907-287C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127200 | ||||||
chr22:41127241
|
T | C | 1 | a0001c0001t0003g0269 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.907-246T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127241 | ||||||
chr22:41127304
|
T | C | 1 | a0001c0002t0029g0124 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.907-183T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127304 | ||||||
chr22:41127416
|
T | C | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.907-71T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127416 | ||||||
chr22:41127417
|
C | G | 1 | a0002c0003t0001g0181 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.907-70C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | chr22 | 41127417 | ||||||
chr22:41127755
|
G | C | 1 | a0001c0001t0008g0242 | 1 | HG02257.hp1 | splice_region_variant&intron_variant | LOW | c.1168+7G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127755 | ||||||
chr22:41127766
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1168+18G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127766 | ||||||
chr22:41127768
|
T | C | 4 | a0001c0002t0005g0070a0001c0002t0023g0068a0001c0002t0030g0066others(1): Show | 4 | NA18988.hp2 NA18995.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.1168+20T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127768 | ||||||
chr22:41127933
|
A | G | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.1168+185A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127933 | ||||||
chr22:41127996
|
T | G | 2 | a0001c0004t0004g0011a0001c0013t0004g0007 | 2 | HG02109.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1168+248T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41127996 | ||||||
chr22:41128004
|
A | G | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1168+256A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128004 | ||||||
chr22:41128174
|
G | A | 2 | a0001c0001t0002g0221a0001c0001t0002g0239 | 2 | HG00642.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.1168+426G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128174 | ||||||
chr22:41128396
|
G | A | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1168+648G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128396 | ||||||
chr22:41128460
|
C | CA | 9 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(6): Show | 9 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1168+722dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr22 | 41128460 | |||||
chr22:41128494
|
T | A | 3 | a0001c0004t0003g0008a0001c0004t0003g0010a0002c0003t0001g0146 | 3 | HG01099.hp2 HG01934.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1168+746T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128494 | ||||||
chr22:41128495
|
A | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1168+747A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128495 | ||||||
chr22:41128673
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1168+925G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128673 | ||||||
chr22:41128727
|
C | T | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1168+979C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128727 | ||||||
chr22:41128757
|
C | T | 4 | a0001c0001t0024g0277a0001c0002t0003g0115a0001c0002t0010g0056others(1): Show | 4 | HG02559.hp1 HG02818.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1168+1009C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128757 | ||||||
chr22:41128791
|
G | A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.1168+1043G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128791 | ||||||
chr22:41128897
|
G | A | 2 | a0001c0001t0002g0224a0001c0001t0002g0225 | 2 | NA18986.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.1169-993G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128897 | ||||||
chr22:41128936
|
C | T | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1169-954C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41128936 | ||||||
chr22:41129080
|
A | G | 2 | a0001c0002t0021g0300a0001c0002t0055g0299 | 2 | HG02129.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.1169-810A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129080 | ||||||
chr22:41129167
|
T | C | 1 | a0002c0003t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1169-723T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129167 | ||||||
chr22:41129168
|
G | GC | 201 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(198): Show | 201 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(198): Show |
intron_variant | MODIFIER | c.1169-722_1169-721i others(3): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129168 | ||||||
chr22:41129169
|
G | C | 201 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(198): Show | 201 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(198): Show |
intron_variant | MODIFIER | c.1169-721G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129169 | ||||||
chr22:41129171
|
G | A | 1 | a0002c0003t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1169-719G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129171 | ||||||
chr22:41129176
|
A | AT | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.1169-706dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr22 | 41129176 | |||||
chr22:41129272
|
A | T | 9 | a0002c0003t0001g0131a0002c0003t0001g0148a0002c0003t0001g0152others(6): Show | 9 | HG00423.hp2 HG00735.hp2 HG00738.hp1 others(6): Show |
intron_variant | MODIFIER | c.1169-618A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129272 | ||||||
chr22:41129290
|
C | T | 1 | a0001c0004t0003g0003 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1169-600C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129290 | ||||||
chr22:41129364
|
A | T | 1 | a0001c0002t0021g0052 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1169-526A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129364 | ||||||
chr22:41129561
|
A | G | 1 | a0001c0002t0003g0115 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1169-329A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4/30 | chr22 | 41129561 | ||||||
chr22:41130032
|
T | C | 1 | a0001c0001t0011g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1282+29T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130032 | ||||||
chr22:41130091
|
A | T | 2 | a0001c0004t0003g0005a0001c0004t0004g0016 | 2 | HG02723.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1282+88A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130091 | ||||||
chr22:41130102
|
T | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1282+99T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130102 | ||||||
chr22:41130243
|
C | A | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1282+240C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130243 | ||||||
chr22:41130246
|
G | C | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+243G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130246 | ||||||
chr22:41130254
|
T | TA | 93 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0013g0166others(90): Show | 93 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.1282+267dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130254 | |||||
chr22:41130254
|
TA | T | 6 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(3): Show | 6 | HG00639.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1282+267delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130254 | |||||
chr22:41130360
|
C | G | 2 | a0001c0002t0063g0089a0001c0002t0065g0083 | 2 | HG00639.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.1282+357C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130360 | ||||||
chr22:41130378
|
C | T | 1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1282+375C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130378 | ||||||
chr22:41130484
|
G | A | 4 | a0001c0002t0005g0070a0001c0002t0023g0068a0001c0002t0030g0066others(1): Show | 4 | NA18988.hp2 NA18995.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+481G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130484 | ||||||
chr22:41130502
|
C | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1282+499C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130502 | ||||||
chr22:41130533
|
A | C | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1282+530A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130533 | ||||||
chr22:41130533
|
AAAAAC | A | 17 | a0001c0001t0003g0259a0001c0001t0003g0268a0001c0001t0003g0269others(14): Show | 17 | HG00140.hp2 HG00735.hp1 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.1282+550_1282+554d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | 41130533 | |||||
chr22:41130661
|
C | T | 4 | a0001c0007t0003g0198a0001c0007t0066g0194a0001c0007t0067g0192others(1): Show | 4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1282+658C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41130661 | ||||||
chr22:41131081
|
A | C | 1 | a0001c0009t0002g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1283-307A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131081 | ||||||
chr22:41131239
|
C | G | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1283-149C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131239 | ||||||
chr22:41131380
|
T | C | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
splice_region_variant&intron_variant | LOW | c.1283-8T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 5/30 | chr22 | 41131380 | ||||||
chr22:41131699
|
T | C | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1528+66T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131699 | ||||||
chr22:41131760
|
A | G | 1 | a0001c0002t0004g0092 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1528+127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131760 | ||||||
chr22:41131791
|
C | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1528+158C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131791 | ||||||
chr22:41131815
|
T | C | 2 | a0001c0006t0007g0043a0001c0006t0007g0048 | 2 | HG02257.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1528+182T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131815 | ||||||
chr22:41131920
|
G | A | 1 | a0001c0004t0005g0034 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1528+287G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131920 | ||||||
chr22:41131975
|
A | T | 1 | a0001c0001t0025g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1528+342A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41131975 | ||||||
chr22:41132089
|
G | A | 1 | a0001c0001t0005g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1528+456G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132089 | ||||||
chr22:41132195
|
C | CA | 9 | a0001c0001t0041g0187a0001c0002t0006g0085a0001c0002t0020g0117others(6): Show | 9 | HG00609.hp1 HG03098.hp2 HG03453.hp1 others(6): Show |
intron_variant | MODIFIER | c.1528+576dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132195 | |||||
chr22:41132210
|
T | A | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1528+577T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132210 | ||||||
chr22:41132257
|
A | G | 8 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(5): Show | 8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1528+624A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132257 | ||||||
chr22:41132259
|
G | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1528+626G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132259 | ||||||
chr22:41132285
|
T | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1528+652T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132285 | ||||||
chr22:41132286
|
C | CT | 11 | a0001c0005t0016g0110a0001c0005t0017g0111a0001c0006t0003g0044others(8): Show | 11 | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1528+673dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | |||||
chr22:41132286
|
CT | C | 192 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.1528+673delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | |||||
chr22:41132286
|
CTT | C | 38 | a0001c0001t0002g0212a0001c0001t0003g0259a0001c0001t0003g0268others(35): Show | 38 | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.1528+672_1528+673d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | |||||
chr22:41132286
|
CTTT | C | 16 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0003g0008others(13): Show | 16 | HG01934.hp2 HG02109.hp2 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.1528+671_1528+673d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41132286 | |||||
chr22:41132319
|
C | A | 130 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(127): Show | 130 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.1528+686C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132319 | ||||||
chr22:41132403
|
T | G | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.1528+770T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132403 | ||||||
chr22:41132573
|
T | C | 63 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(60): Show | 63 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(60): Show |
intron_variant | MODIFIER | c.1528+940T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132573 | ||||||
chr22:41132603
|
A | G | 4 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(1): Show | 4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1528+970A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132603 | ||||||
chr22:41132758
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1528+1125T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132758 | ||||||
chr22:41132893
|
A | C | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1528+1260A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41132893 | ||||||
chr22:41133074
|
T | G | 293 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(290): Show | 293 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
intron_variant | MODIFIER | c.1528+1441T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133074 | ||||||
chr22:41133140
|
G | A | 36 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(33): Show | 36 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.1528+1507G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133140 | ||||||
chr22:41133152
|
T | TC | 32 | a0001c0001t0002g0228a0001c0001t0002g0230a0001c0001t0002g0237others(29): Show | 32 | HG00642.hp1 HG01081.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1528+1529dupC | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41133152 | |||||
chr22:41133154
|
C | A | 1 | a0001c0006t0003g0044 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1528+1521C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133154 | ||||||
chr22:41133155
|
C | CG | 126 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(123): Show | 126 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.1528+1522_1528+152 others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133155 | ||||||
chr22:41133462
|
T | C | 4 | a0001c0004t0003g0003a0001c0004t0003g0005a0001c0004t0004g0016others(1): Show | 4 | HG02723.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1528+1829T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133462 | ||||||
chr22:41133599
|
AGCATTTC others(4): Show |
A | 1 | a0007c0015t0002g0024 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1528+1968_1528+197 others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41133599 | |||||
chr22:41133720
|
T | G | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1528+2087T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133720 | ||||||
chr22:41133986
|
A | G | 1 | a0001c0021t0005g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1529-1827A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41133986 | ||||||
chr22:41134036
|
A | G | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.1529-1777A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134036 | ||||||
chr22:41134053
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1529-1760T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134053 | ||||||
chr22:41134055
|
G | C | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1529-1758G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134055 | ||||||
chr22:41134163
|
C | CT | 86 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0013g0166others(83): Show | 86 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.1529-1632dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134163 | |||||
chr22:41134163
|
CT | C | 75 | a0001c0001t0003g0249a0001c0001t0003g0255a0001c0001t0015g0189others(72): Show | 75 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.1529-1632delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134163 | |||||
chr22:41134187
|
T | C | 9 | a0001c0001t0003g0278a0001c0001t0003g0279a0001c0001t0004g0251others(6): Show | 9 | HG00639.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1529-1626T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134187 | ||||||
chr22:41134188
|
T | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1529-1625T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134188 | ||||||
chr22:41134324
|
G | A | 1 | a0001c0002t0064g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1529-1489G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134324 | ||||||
chr22:41134366
|
CGT | C | 3 | a0001c0007t0066g0194a0001c0007t0067g0192a0008c0014t0068g0193 | 3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1529-1433_1529-143 others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134366 | |||||
chr22:41134429
|
G | A | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529-1384G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134429 | ||||||
chr22:41134434
|
G | A | 3 | a0001c0002t0020g0099a0001c0002t0063g0089a0001c0002t0065g0083 | 3 | HG00639.hp2 HG01516.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1529-1379G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134434 | ||||||
chr22:41134539
|
C | T | 3 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0025g0188 | 3 | HG02886.hp2 HG02970.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1529-1274C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134539 | ||||||
chr22:41134856
|
C | T | 2 | a0001c0002t0006g0082a0001c0002t0069g0064 | 2 | HG00140.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1529-957C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134856 | ||||||
chr22:41134898
|
T | C | 1 | a0001c0002t0009g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1529-915T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134898 | ||||||
chr22:41134898
|
T | TTTTC | 10 | a0001c0001t0004g0251a0001c0001t0015g0189a0001c0001t0015g0195others(7): Show | 10 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.1529-899_1529-896d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | |||||
chr22:41134898
|
T | TTTTCTTT others(5): Show |
61 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(58): Show | 61 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(58): Show |
intron_variant | MODIFIER | c.1529-907_1529-896d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | |||||
chr22:41134898
|
T | TTTTCTTT others(9): Show |
2 | a0001c0005t0016g0135a0004c0020t0007g0186 | 2 | HG02818.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1529-911_1529-896d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41134898 | |||||
chr22:41134962
|
T | C | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1529-851T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41134962 | ||||||
chr22:41135151
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1529-662C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135151 | ||||||
chr22:41135215
|
A | G | 293 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(290): Show | 293 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
intron_variant | MODIFIER | c.1529-598A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135215 | ||||||
chr22:41135232
|
C | T | 1 | a0001c0001t0002g0215 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1529-581C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135232 | ||||||
chr22:41135406
|
A | G | 73 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(70): Show | 73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.1529-407A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135406 | ||||||
chr22:41135496
|
T | G | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1529-317T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135496 | ||||||
chr22:41135516
|
C | T | 1 | a0001c0016t0058g0096 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1529-297C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135516 | ||||||
chr22:41135538
|
G | C | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1529-275G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135538 | ||||||
chr22:41135565
|
CT | C | 9 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(6): Show | 9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1529-237delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr22 | 41135565 | |||||
chr22:41135603
|
A | G | 1 | a0001c0006t0010g0042 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1529-210A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135603 | ||||||
chr22:41135666
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529-147A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135666 | ||||||
chr22:41135673
|
G | A | 9 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(6): Show | 9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1529-140G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135673 | ||||||
chr22:41135727
|
T | A | 3 | a0001c0005t0016g0109a0001c0005t0016g0110a0001c0005t0072g0113 | 3 | HG01884.hp1 HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1529-86T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135727 | ||||||
chr22:41135749
|
T | C | 5 | a0001c0001t0002g0211a0001c0001t0002g0213a0001c0001t0002g0214others(2): Show | 5 | HG00558.hp2 NA18612.hp2 NA18943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1529-64T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 6/30 | chr22 | 41135749 | ||||||
chr22:41136021
|
A | G | 1 | a0002c0003t0018g0144 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1622+115A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136021 | ||||||
chr22:41136052
|
G | A | 1 | a0001c0002t0050g0061 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1622+146G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136052 | ||||||
chr22:41136325
|
A | G | 3 | a0001c0004t0007g0039a0001c0004t0008g0026a0001c0004t0010g0036 | 3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1622+419A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136325 | ||||||
chr22:41136475
|
T | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1622+569T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136475 | ||||||
chr22:41136530
|
G | A | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.1622+624G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136530 | ||||||
chr22:41136625
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1622+719C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136625 | ||||||
chr22:41136826
|
G | A | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1623-827G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136826 | ||||||
chr22:41136917
|
G | A | 1 | a0002c0003t0013g0174 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1623-736G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136917 | ||||||
chr22:41136930
|
T | C | 201 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(198): Show | 201 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(198): Show |
intron_variant | MODIFIER | c.1623-723T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41136930 | ||||||
chr22:41137066
|
GA | G | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.1623-578delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137066 | |||||
chr22:41137094
|
C | T | 1 | a0001c0002t0009g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1623-559C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137094 | ||||||
chr22:41137225
|
C | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1623-428C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137225 | ||||||
chr22:41137303
|
T | C | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1623-350T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137303 | ||||||
chr22:41137351
|
T | C | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1623-302T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137351 | ||||||
chr22:41137356
|
C | CA | 125 | a0001c0001t0002g0208a0001c0001t0003g0249a0001c0001t0003g0255others(122): Show | 125 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.1623-277dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137356 | |||||
chr22:41137356
|
C | CAA | 74 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(71): Show | 74 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.1623-278_1623-277d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr22 | 41137356 | |||||
chr22:41137633
|
T | C | 1 | a0001c0001t0010g0267 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1623-20T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 7/30 | chr22 | 41137633 | ||||||
chr22:41137919
|
C | A | 1 | a0001c0001t0003g0279 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1760+129C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41137919 | ||||||
chr22:41138168
|
T | G | 1 | a0001c0007t0066g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1760+378T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138168 | ||||||
chr22:41138226
|
C | T | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1760+436C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138226 | ||||||
chr22:41138312
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1760+522T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138312 | ||||||
chr22:41138352
|
C | T | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.1760+562C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138352 | ||||||
chr22:41138374
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1760+584C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138374 | ||||||
chr22:41138563
|
T | C | 1 | a0001c0001t0004g0257 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1760+773T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138563 | ||||||
chr22:41138922
|
C | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1760+1132C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41138922 | ||||||
chr22:41139148
|
T | G | 9 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(6): Show | 9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.1761-992T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139148 | ||||||
chr22:41139377
|
G | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-763G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139377 | ||||||
chr22:41139480
|
T | C | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1761-660T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139480 | ||||||
chr22:41139519
|
C | T | 1 | a0002c0027t0001g0179 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1761-621C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139519 | ||||||
chr22:41139569
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-571A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139569 | ||||||
chr22:41139601
|
T | C | 1 | a0001c0010t0005g0202 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1761-539T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139601 | ||||||
chr22:41139718
|
C | G | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.1761-422C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139718 | ||||||
chr22:41139833
|
T | A | 3 | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246 | 3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.1761-307T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139833 | ||||||
chr22:41139871
|
A | C | 1 | a0001c0002t0006g0125 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1761-269A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139871 | ||||||
chr22:41139904
|
T | C | 1 | a0008c0014t0068g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1761-236T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41139904 | ||||||
chr22:41140060
|
T | C | 8 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(5): Show | 8 | HG00597.hp2 HG02083.hp2 NA18955.hp1 others(5): Show |
intron_variant | MODIFIER | c.1761-80T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | chr22 | 41140060 | ||||||
chr22:41140108
|
GAT | G | 5 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(2): Show | 5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1761-29_1761-28del others(2): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr22 | 41140108 | |||||
chr22:41140316
|
T | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1878+59T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140316 | ||||||
chr22:41140343
|
A | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1878+86A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140343 | ||||||
chr22:41140448
|
T | C | 1 | a0001c0002t0006g0055 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1878+191T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140448 | ||||||
chr22:41140755
|
G | A | 6 | a0002c0003t0001g0155a0002c0003t0001g0181a0002c0003t0001g0182others(3): Show | 6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.1879-293G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140755 | ||||||
chr22:41140788
|
C | G | 1 | a0001c0005t0075g0134 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1879-260C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140788 | ||||||
chr22:41140821
|
C | T | 1 | a0001c0004t0005g0029 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1879-227C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140821 | ||||||
chr22:41140898
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1879-150A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140898 | ||||||
chr22:41140923
|
T | G | 3 | a0001c0004t0007g0039a0001c0004t0008g0026a0001c0004t0010g0036 | 3 | HG02027.hp1 HG02132.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1879-125T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 9/30 | chr22 | 41140923 | ||||||
chr22:41141230
|
G | T | 290 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(287): Show | 290 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
splice_region_variant&intron_variant | LOW | c.2053+8G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141230 | ||||||
chr22:41141264
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+42A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141264 | ||||||
chr22:41141286
|
G | A | 1 | a0001c0002t0027g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2053+64G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141286 | ||||||
chr22:41141375
|
A | G | 2 | a0002c0003t0001g0183a0002c0003t0001g0184 | 2 | HG02027.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.2053+153A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141375 | ||||||
chr22:41141564
|
G | C | 1 | a0001c0002t0021g0052 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2053+342G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141564 | ||||||
chr22:41141585
|
A | G | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.2053+363A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141585 | ||||||
chr22:41141665
|
C | CT | 73 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(70): Show | 73 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2053+456dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41141665 | |||||
chr22:41141665
|
CT | C | 10 | a0001c0001t0003g0249a0001c0001t0003g0255a0001c0001t0003g0256others(7): Show | 10 | HG00733.hp1 HG01517.hp2 HG01943.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+456delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41141665 | |||||
chr22:41141669
|
T | G | 1 | a0001c0001t0077g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2053+447T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141669 | ||||||
chr22:41141849
|
G | T | 22 | a0001c0004t0002g0033a0001c0004t0003g0021a0001c0004t0003g0022others(19): Show | 22 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.2053+627G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141849 | ||||||
chr22:41141866
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053+644A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141866 | ||||||
chr22:41141920
|
G | A | 1 | a0001c0002t0065g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2053+698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41141920 | ||||||
chr22:41142018
|
C | G | 1 | a0001c0023t0004g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2053+796C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142018 | ||||||
chr22:41142107
|
C | G | 255 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(252): Show | 255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.2053+885C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142107 | ||||||
chr22:41142157
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+935C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142157 | ||||||
chr22:41142245
|
A | G | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+1023A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142245 | ||||||
chr22:41142432
|
A | G | 1 | a0001c0001t0002g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2053+1210A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142432 | ||||||
chr22:41142448
|
A | G | 1 | a0001c0001t0010g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2053+1226A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142448 | ||||||
chr22:41142574
|
G | A | 1 | a0001c0002t0020g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2053+1352G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142574 | ||||||
chr22:41142697
|
A | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+1475A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142697 | ||||||
chr22:41142743
|
G | A | 1 | a0001c0001t0002g0209 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2053+1521G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142743 | ||||||
chr22:41142977
|
G | T | 1 | a0001c0001t0005g0270 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2053+1755G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41142977 | ||||||
chr22:41143001
|
T | C | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2053+1779T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143001 | ||||||
chr22:41143023
|
C | A | 1 | a0002c0003t0001g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2053+1801C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143023 | ||||||
chr22:41143083
|
C | T | 1 | a0001c0002t0064g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2053+1861C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143083 | ||||||
chr22:41143202
|
C | G | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.2053+1980C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143202 | ||||||
chr22:41143420
|
T | C | 192 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(189): Show | 192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.2053+2198T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143420 | ||||||
chr22:41143431
|
A | G | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2053+2209A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143431 | ||||||
chr22:41143538
|
C | T | 1 | a0001c0004t0034g0037 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2053+2316C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143538 | ||||||
chr22:41143542
|
A | G | 1 | a0001c0001t0002g0217 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2053+2320A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143542 | ||||||
chr22:41143609
|
TTTGTCAC others(3): Show |
T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2053+2388_2053+239 others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143609 | ||||||
chr22:41143870
|
C | A | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2053+2648C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143870 | ||||||
chr22:41143881
|
G | A | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053+2659G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41143881 | ||||||
chr22:41144241
|
A | G | 1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2054-2498A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144241 | ||||||
chr22:41144275
|
T | C | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.2054-2464T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144275 | ||||||
chr22:41144386
|
G | C | 1 | a0001c0004t0004g0006 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2054-2353G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144386 | ||||||
chr22:41144398
|
C | G | 1 | a0002c0003t0018g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-2341C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144398 | ||||||
chr22:41144427
|
C | G | 1 | a0002c0003t0018g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-2312C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144427 | ||||||
chr22:41144639
|
G | T | 1 | a0001c0002t0022g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2054-2100G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144639 | ||||||
chr22:41144649
|
G | A | 3 | a0001c0002t0004g0092a0001c0002t0004g0097a0001c0002t0043g0058 | 3 | HG00673.hp1 NA18971.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.2054-2090G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144649 | ||||||
chr22:41144930
|
C | G | 72 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.2054-1809C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144930 | ||||||
chr22:41144954
|
T | C | 1 | a0001c0002t0023g0130 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2054-1785T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144954 | ||||||
chr22:41144980
|
T | G | 2 | a0002c0003t0001g0146a0002c0003t0001g0151 | 2 | HG01099.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.2054-1759T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144980 | ||||||
chr22:41144981
|
C | G | 1 | a0001c0001t0077g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2054-1758C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41144981 | ||||||
chr22:41145007
|
T | C | 1 | a0001c0001t0077g0248 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2054-1732T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145007 | ||||||
chr22:41145014
|
C | T | 4 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(1): Show | 4 | HG01099.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2054-1725C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145014 | ||||||
chr22:41145020
|
A | G | 200 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(197): Show | 200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.2054-1719A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145020 | ||||||
chr22:41145147
|
A | G | 1 | a0001c0001t0004g0280 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2054-1592A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145147 | ||||||
chr22:41145184
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2054-1555T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145184 | ||||||
chr22:41145407
|
A | T | 2 | a0002c0003t0001g0170a0002c0003t0001g0175 | 2 | HG00280.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.2054-1332A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145407 | ||||||
chr22:41145423
|
A | T | 1 | a0001c0023t0004g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2054-1316A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145423 | ||||||
chr22:41145523
|
G | C | 200 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(197): Show | 200 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.2054-1216G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145523 | ||||||
chr22:41145640
|
T | C | 1 | a0001c0007t0066g0194 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2054-1099T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145640 | ||||||
chr22:41145647
|
G | A | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2054-1092G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145647 | ||||||
chr22:41145654
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2054-1085C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145654 | ||||||
chr22:41145729
|
C | A | 1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2054-1010C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145729 | ||||||
chr22:41145842
|
A | G | 38 | a0001c0004t0002g0033a0001c0004t0003g0003a0001c0004t0003g0005others(35): Show | 38 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2054-897A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145842 | ||||||
chr22:41145856
|
C | T | 1 | a0001c0004t0004g0006 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2054-883C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145856 | ||||||
chr22:41145925
|
T | C | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.2054-814T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41145925 | ||||||
chr22:41146014
|
G | A | 1 | a0001c0002t0064g0053 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2054-725G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146014 | ||||||
chr22:41146049
|
A | G | 1 | a0001c0002t0028g0128 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2054-690A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146049 | ||||||
chr22:41146110
|
C | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2054-629C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146110 | ||||||
chr22:41146165
|
A | AT | 164 | a0001c0001t0002g0237a0001c0001t0002g0245a0001c0001t0003g0278others(161): Show | 164 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(161): Show |
intron_variant | MODIFIER | c.2054-557dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41146165 | |||||
chr22:41146165
|
A | ATT | 10 | a0001c0002t0004g0087a0001c0002t0006g0122a0001c0002t0006g0125others(7): Show | 10 | HG00408.hp2 HG00558.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.2054-558_2054-557d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr22 | 41146165 | |||||
chr22:41146245
|
A | G | 1 | a0002c0003t0001g0163 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2054-494A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146245 | ||||||
chr22:41146416
|
C | G | 1 | a0002c0003t0018g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2054-323C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146416 | ||||||
chr22:41146441
|
A | G | 3 | a0001c0001t0002g0211a0001c0001t0002g0213a0001c0001t0002g0214 | 3 | NA18612.hp2 NA18943.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.2054-298A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146441 | ||||||
chr22:41146508
|
G | T | 2 | a0003c0008t0005g0216a0003c0008t0005g0220 | 2 | NA18988.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.2054-231G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146508 | ||||||
chr22:41146510
|
A | G | 1 | a0001c0004t0008g0026 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2054-229A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146510 | ||||||
chr22:41146680
|
G | A | 1 | a0001c0002t0020g0054 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2054-59G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | 41146680 | ||||||
chr22:41146833
|
A | T | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2131+17A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146833 | ||||||
chr22:41146858
|
G | A | 1 | a0001c0006t0046g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2131+42G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146858 | ||||||
chr22:41146926
|
C | T | 1 | a0001c0005t0072g0113 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2131+110C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146926 | ||||||
chr22:41146983
|
T | C | 1 | a0001c0002t0009g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2131+167T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41146983 | ||||||
chr22:41147075
|
C | T | 5 | a0001c0002t0014g0141a0001c0002t0014g0164a0001c0002t0014g0165others(2): Show | 5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2131+259C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147075 | ||||||
chr22:41147101
|
C | T | 2 | a0002c0003t0001g0049a0002c0003t0001g0050 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2131+285C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147101 | ||||||
chr22:41147154
|
A | C | 1 | a0001c0002t0065g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2131+338A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147154 | ||||||
chr22:41147167
|
G | A | 71 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(68): Show | 71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.2131+351G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147167 | ||||||
chr22:41147303
|
C | CAAA | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.2131+501_2131+503d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr22 | 41147303 | |||||
chr22:41147303
|
CA | C | 131 | a0001c0001t0002g0208a0001c0002t0001g0103a0001c0002t0003g0115others(128): Show | 131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.2131+503delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr22 | 41147303 | |||||
chr22:41147465
|
C | T | 2 | a0001c0002t0009g0127a0001c0002t0048g0120 | 2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.2132-372C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147465 | ||||||
chr22:41147485
|
C | T | 1 | a0001c0009t0002g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2132-352C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147485 | ||||||
chr22:41147509
|
G | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2132-328G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147509 | ||||||
chr22:41147565
|
C | T | 3 | a0001c0001t0005g0270a0001c0001t0038g0275a0001c0001t0039g0272 | 3 | HG02615.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2132-272C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147565 | ||||||
chr22:41147581
|
A | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2132-256A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147581 | ||||||
chr22:41147606
|
C | T | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2132-231C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147606 | ||||||
chr22:41147610
|
C | T | 2 | a0001c0004t0003g0005a0001c0004t0004g0016 | 2 | HG02723.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2132-227C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147610 | ||||||
chr22:41147717
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2132-120G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147717 | ||||||
chr22:41147732
|
C | T | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2132-105C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147732 | ||||||
chr22:41147792
|
A | G | 2 | a0001c0007t0003g0198a0002c0003t0001g0147 | 2 | HG02258.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.2132-45A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 11/30 | chr22 | 41147792 | ||||||
chr22:41147979
|
C | G | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2241+33C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41147979 | ||||||
chr22:41148163
|
C | T | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.2241+217C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148163 | ||||||
chr22:41148229
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2241+283A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148229 | ||||||
chr22:41148307
|
C | G | 1 | a0003c0008t0005g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2241+361C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148307 | ||||||
chr22:41148643
|
C | A | 1 | a0001c0006t0007g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2242-395C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148643 | ||||||
chr22:41148655
|
C | G | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2242-383C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148655 | ||||||
chr22:41148664
|
T | C | 1 | a0001c0005t0016g0110 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2242-374T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148664 | ||||||
chr22:41148745
|
T | C | 1 | a0002c0003t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2242-293T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148745 | ||||||
chr22:41148840
|
A | G | 1 | a0001c0004t0002g0033 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.2242-198A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148840 | ||||||
chr22:41148955
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2242-83G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | chr22 | 41148955 | ||||||
chr22:41149020
|
G | GT | 17 | a0001c0001t0002g0237a0001c0001t0077g0248a0001c0002t0045g0075others(14): Show | 17 | HG01891.hp1 HG02071.hp1 HG02257.hp2 others(14): Show |
splice_region_variant&intron_variant | LOW | c.2242-4dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr22 | 41149020 | |||||
chr22:41149271
|
G | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+96G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149271 | ||||||
chr22:41149272
|
A | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+97A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149272 | ||||||
chr22:41149276
|
C | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2379+101C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149276 | ||||||
chr22:41149288
|
T | A | 52 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(49): Show | 52 | HG00544.hp1 HG00597.hp2 HG01109.hp2 others(49): Show |
intron_variant | MODIFIER | c.2379+113T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149288 | ||||||
chr22:41149289
|
A | T | 4 | a0001c0007t0003g0198a0001c0007t0066g0194a0001c0007t0067g0192others(1): Show | 4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2379+114A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149289 | ||||||
chr22:41149326
|
TGAA | T | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.2379+154_2379+156d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr22 | 41149326 | |||||
chr22:41149497
|
A | G | 1 | a0001c0002t0027g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2380-264A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149497 | ||||||
chr22:41149607
|
G | C | 299 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(296): Show | 299 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
intron_variant | MODIFIER | c.2380-154G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149607 | ||||||
chr22:41149619
|
G | A | 17 | a0002c0003t0001g0131a0002c0003t0001g0140a0002c0003t0001g0146others(14): Show | 17 | HG00099.hp2 HG00423.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.2380-142G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149619 | ||||||
chr22:41149746
|
T | C | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.2380-15T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 13/30 | chr22 | 41149746 | ||||||
chr22:41150309
|
A | C | 1 | a0001c0001t0002g0226 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2817+111A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150309 | ||||||
chr22:41150325
|
A | G | 2 | a0001c0010t0005g0201a0001c0010t0005g0202 | 2 | HG02647.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2817+127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150325 | ||||||
chr22:41150372
|
T | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2817+174T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150372 | ||||||
chr22:41150380
|
G | A | 2 | a0001c0007t0066g0194a0008c0014t0068g0193 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2817+182G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150380 | ||||||
chr22:41150408
|
C | G | 1 | a0001c0002t0004g0087 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2817+210C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150408 | ||||||
chr22:41150458
|
C | T | 1 | a0002c0003t0001g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2817+260C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150458 | ||||||
chr22:41150610
|
C | T | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2817+412C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150610 | ||||||
chr22:41150714
|
C | T | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2817+516C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150714 | ||||||
chr22:41150885
|
C | T | 2 | a0002c0003t0001g0170a0002c0003t0001g0175 | 2 | HG00280.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.2817+687C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41150885 | ||||||
chr22:41150889
|
T | TA | 15 | a0001c0001t0003g0278a0001c0001t0003g0279a0001c0001t0025g0188others(12): Show | 15 | HG00639.hp1 HG01884.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.2817+708dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr22 | 41150889 | |||||
chr22:41150889
|
TA | T | 11 | a0001c0002t0022g0086a0001c0004t0003g0003a0001c0006t0003g0044others(8): Show | 11 | HG01257.hp2 HG01891.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.2817+708delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr22 | 41150889 | |||||
chr22:41151150
|
C | A | 1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2818-683C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151150 | ||||||
chr22:41151215
|
G | C | 1 | a0001c0002t0006g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2818-618G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151215 | ||||||
chr22:41151412
|
C | G | 192 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(189): Show | 192 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.2818-421C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 14/30 | chr22 | 41151412 | ||||||
chr22:41152040
|
T | C | 1 | a0001c0002t0027g0076 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2997+28T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/30 | chr22 | 41152040 | ||||||
chr22:41152194
|
G | A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.2998-12G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 15/30 | chr22 | 41152194 | ||||||
chr22:41152416
|
G | A | 1 | a0002c0003t0001g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3142+66G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152416 | ||||||
chr22:41152519
|
T | C | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3142+169T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152519 | ||||||
chr22:41152595
|
A | G | 7 | a0001c0001t0002g0206a0001c0001t0002g0209a0001c0001t0002g0221others(4): Show | 7 | HG00099.hp1 HG00642.hp1 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.3142+245A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152595 | ||||||
chr22:41152722
|
A | G | 3 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241 | 3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3142+372A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152722 | ||||||
chr22:41152770
|
G | GT | 299 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(296): Show | 299 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
intron_variant | MODIFIER | c.3142+423dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41152770 | |||||
chr22:41152977
|
C | T | 1 | a0001c0004t0002g0033 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3142+627C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41152977 | ||||||
chr22:41153005
|
T | C | 201 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(198): Show | 201 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(198): Show |
intron_variant | MODIFIER | c.3142+655T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153005 | ||||||
chr22:41153293
|
A | G | 255 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(252): Show | 255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.3142+943A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153293 | ||||||
chr22:41153460
|
A | G | 1 | a0001c0001t0002g0240 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3142+1110A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153460 | ||||||
chr22:41153466
|
C | T | 1 | a0002c0003t0001g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3142+1116C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153466 | ||||||
chr22:41153503
|
C | T | 41 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(38): Show | 41 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(38): Show |
intron_variant | MODIFIER | c.3142+1153C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153503 | ||||||
chr22:41153504
|
G | A | 3 | a0001c0001t0005g0270a0001c0001t0038g0275a0001c0001t0039g0272 | 3 | HG02615.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3142+1154G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153504 | ||||||
chr22:41153917
|
A | C | 210 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(207): Show | 210 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.3143-1078A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153917 | ||||||
chr22:41153971
|
T | C | 1 | a0001c0001t0012g0293 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.3143-1024T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41153971 | ||||||
chr22:41154137
|
C | G | 24 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(21): Show | 24 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.3143-858C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154137 | ||||||
chr22:41154321
|
C | T | 1 | a0001c0002t0004g0087 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3143-674C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154321 | ||||||
chr22:41154376
|
C | CTTT | 62 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0092others(59): Show | 62 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(59): Show |
intron_variant | MODIFIER | c.3143-598_3143-596d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTT | 14 | a0001c0001t0047g0285a0001c0002t0004g0087a0001c0002t0009g0121others(11): Show | 14 | HG00673.hp2 HG01099.hp1 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.3143-599_3143-596d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTT | 24 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(21): Show | 24 | HG01884.hp1 HG01952.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.3143-600_3143-596d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTT | 17 | a0001c0004t0003g0008a0001c0004t0003g0009a0001c0004t0003g0010others(14): Show | 17 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.3143-601_3143-596d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0041g0187others(3): Show | 6 | HG01891.hp1 HG02886.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.3143-602_3143-596d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(3): Show |
1 | a0001c0006t0046g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3143-605_3143-596d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(8): Show |
8 | a0002c0003t0001g0149a0002c0003t0001g0157a0002c0003t0001g0158others(5): Show | 8 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.3143-610_3143-596d others(17): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(9): Show |
3 | a0001c0010t0005g0201a0001c0010t0005g0202a0002c0003t0001g0177 | 3 | HG02647.hp1 HG02723.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3143-611_3143-596d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(10): Show |
7 | a0002c0003t0001g0182a0002c0003t0001g0184a0002c0003t0013g0176others(4): Show | 7 | HG00597.hp1 HG02523.hp2 HG03491.hp2 others(4): Show |
intron_variant | MODIFIER | c.3143-612_3143-596d others(19): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(11): Show |
7 | a0001c0002t0013g0166a0001c0002t0014g0167a0001c0002t0032g0101others(4): Show | 7 | HG01175.hp2 HG01346.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.3143-613_3143-596d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(12): Show |
9 | a0001c0002t0014g0165a0001c0002t0014g0168a0001c0002t0032g0102others(6): Show | 9 | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(6): Show |
intron_variant | MODIFIER | c.3143-614_3143-596d others(21): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(13): Show |
8 | a0001c0002t0014g0141a0001c0002t0014g0164a0002c0003t0001g0140others(5): Show | 8 | HG00423.hp2 HG00735.hp2 HG01167.hp2 others(5): Show |
intron_variant | MODIFIER | c.3143-615_3143-596d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(14): Show |
1 | a0001c0009t0002g0199 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3143-616_3143-596d others(23): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(15): Show |
5 | a0001c0030t0042g0041a0002c0003t0001g0104a0002c0003t0001g0173others(2): Show | 5 | HG01069.hp2 HG01934.hp1 HG02027.hp2 others(2): Show |
intron_variant | MODIFIER | c.3143-617_3143-596d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(16): Show |
5 | a0001c0011t0031g0190a0002c0003t0001g0142a0002c0003t0001g0146others(2): Show | 5 | HG01099.hp2 HG01261.hp2 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.3143-618_3143-596d others(25): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(17): Show |
1 | a0002c0003t0001g0133 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3143-596_3143-595i others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(18): Show |
1 | a0002c0003t0001g0049 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3143-596_3143-595i others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(19): Show |
3 | a0001c0011t0031g0191a0002c0003t0001g0050a0002c0003t0001g0153 | 3 | HG00738.hp1 HG03492.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.3143-596_3143-595i others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(20): Show |
4 | a0002c0003t0001g0131a0002c0003t0001g0148a0002c0003t0001g0152others(1): Show | 4 | HG01106.hp2 HG01993.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.3143-596_3143-595i others(29): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
C | CTTTTTTT others(21): Show |
1 | a0009c0025t0001g0139 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3143-596_3143-595i others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
CT | C | 12 | a0001c0001t0003g0259a0001c0001t0003g0268a0001c0001t0003g0269others(9): Show | 12 | HG00140.hp2 HG00735.hp1 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.3143-596delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154376
|
CTTTTTTT others(3): Show |
C | 1 | a0001c0005t0017g0108 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3143-605_3143-596d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | 41154376 | |||||
chr22:41154462
|
A | C | 9 | a0002c0003t0001g0147a0002c0003t0001g0155a0002c0003t0001g0163others(6): Show | 9 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.3143-533A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154462 | ||||||
chr22:41154582
|
T | C | 15 | a0001c0002t0006g0062a0001c0002t0006g0084a0001c0002t0006g0119others(12): Show | 15 | HG00423.hp1 HG00558.hp1 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.3143-413T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154582 | ||||||
chr22:41154950
|
C | T | 193 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(190): Show | 193 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.3143-45C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | chr22 | 41154950 | ||||||
chr22:41155227
|
A | AT | 18 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(15): Show | 18 | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.3261+126dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41155227 | |||||
chr22:41155227
|
AT | A | 7 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(4): Show | 7 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.3261+126delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41155227 | |||||
chr22:41155285
|
G | A | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3261+172G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155285 | ||||||
chr22:41155322
|
G | T | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+209G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155322 | ||||||
chr22:41155430
|
C | T | 22 | a0001c0004t0002g0033a0001c0004t0003g0021a0001c0004t0003g0022others(19): Show | 22 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.3261+317C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155430 | ||||||
chr22:41155555
|
A | G | 1 | a0001c0004t0005g0034 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3261+442A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155555 | ||||||
chr22:41155580
|
T | A | 1 | a0001c0002t0049g0090 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.3261+467T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155580 | ||||||
chr22:41155803
|
C | T | 1 | a0001c0001t0003g0259 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3261+690C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155803 | ||||||
chr22:41155983
|
T | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+870T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41155983 | ||||||
chr22:41156072
|
C | T | 5 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(2): Show | 5 | HG01099.hp1 HG02559.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.3261+959C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156072 | ||||||
chr22:41156075
|
A | G | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3261+962A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156075 | ||||||
chr22:41156099
|
C | A | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3261+986C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156099 | ||||||
chr22:41156292
|
C | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3262-877C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156292 | ||||||
chr22:41156434
|
T | TA | 132 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(129): Show | 132 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(129): Show |
intron_variant | MODIFIER | c.3262-734dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr22 | 41156434 | |||||
chr22:41156922
|
T | G | 74 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(71): Show | 74 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.3262-247T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 17/30 | chr22 | 41156922 | ||||||
chr22:41157512
|
C | CT | 37 | a0001c0001t0002g0237a0001c0001t0002g0245a0001c0001t0002g0246others(34): Show | 37 | HG00140.hp2 HG00323.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.3501+126dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | |||||
chr22:41157512
|
C | CTT | 13 | a0001c0001t0007g0286a0001c0001t0077g0248a0001c0005t0016g0106others(10): Show | 13 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.3501+125_3501+126d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | |||||
chr22:41157512
|
CT | C | 9 | a0001c0001t0003g0260a0001c0001t0004g0258a0001c0002t0009g0051others(6): Show | 9 | HG01109.hp2 HG01169.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.3501+126delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | 41157512 | |||||
chr22:41157678
|
T | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3501+270T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 18/30 | chr22 | 41157678 | ||||||
chr22:41158676
|
A | G | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3590+176A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158676 | ||||||
chr22:41158686
|
C | T | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.3590+186C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158686 | ||||||
chr22:41158917
|
T | A | 1 | a0001c0002t0006g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3590+417T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158917 | ||||||
chr22:41158967
|
T | C | 3 | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246 | 3 | HG01346.hp2 HG02738.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.3590+467T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41158967 | ||||||
chr22:41159121
|
T | C | 4 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0048others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3590+621T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159121 | ||||||
chr22:41159475
|
A | T | 1 | a0001c0005t0016g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3590+975A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159475 | ||||||
chr22:41159631
|
G | A | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3591-1011G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159631 | ||||||
chr22:41159685
|
T | G | 1 | a0008c0014t0068g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3591-957T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159685 | ||||||
chr22:41159777
|
C | T | 2 | a0003c0008t0005g0216a0003c0008t0005g0220 | 2 | NA18988.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.3591-865C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159777 | ||||||
chr22:41159932
|
C | T | 1 | a0002c0003t0001g0163 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3591-710C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159932 | ||||||
chr22:41159946
|
T | G | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.3591-696T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41159946 | ||||||
chr22:41160419
|
C | CA | 98 | a0001c0001t0002g0237a0001c0001t0003g0269a0001c0002t0005g0018others(95): Show | 98 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.3591-212dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr22 | 41160419 | |||||
chr22:41160431
|
C | A | 1 | a0001c0004t0033g0002 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.3591-211C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | chr22 | 41160431 | ||||||
chr22:41160445
|
AAAAC | A | 5 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(2): Show | 5 | HG02602.hp2 HG02965.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3591-189_3591-186d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr22 | 41160445 | |||||
chr22:41160905
|
A | C | 3 | a0001c0001t0002g0221a0001c0001t0002g0228a0001c0001t0002g0239 | 3 | HG00642.hp1 HG01261.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.3671+183A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41160905 | ||||||
chr22:41160972
|
G | GT | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.3671+251dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr22 | 41160972 | |||||
chr22:41161159
|
C | T | 3 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241 | 3 | HG01106.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3671+437C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161159 | ||||||
chr22:41161188
|
C | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3671+466C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161188 | ||||||
chr22:41161418
|
C | T | 22 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(19): Show | 22 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.3671+696C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161418 | ||||||
chr22:41161425
|
G | C | 12 | a0001c0004t0003g0008a0001c0004t0003g0009a0001c0004t0003g0010others(9): Show | 12 | HG01934.hp2 HG02109.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3671+703G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161425 | ||||||
chr22:41161442
|
C | T | 1 | a0001c0001t0025g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3671+720C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161442 | ||||||
chr22:41161478
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3671+756A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161478 | ||||||
chr22:41161499
|
C | G | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3671+777C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161499 | ||||||
chr22:41161823
|
A | G | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3672-900A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161823 | ||||||
chr22:41161919
|
T | G | 1 | a0001c0002t0004g0092 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.3672-804T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41161919 | ||||||
chr22:41162228
|
A | G | 132 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(129): Show | 132 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(129): Show |
intron_variant | MODIFIER | c.3672-495A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162228 | ||||||
chr22:41162361
|
C | G | 12 | a0002c0003t0001g0131a0002c0003t0001g0146a0002c0003t0001g0148others(9): Show | 12 | HG00423.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.3672-362C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162361 | ||||||
chr22:41162432
|
A | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3672-291A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162432 | ||||||
chr22:41162527
|
T | C | 8 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3672-196T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 20/30 | chr22 | 41162527 | ||||||
chr22:41162834
|
C | G | 5 | a0001c0002t0014g0141a0001c0002t0014g0164a0001c0002t0014g0165others(2): Show | 5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3728+55C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162834 | ||||||
chr22:41162846
|
G | C | 1 | a0001c0002t0020g0117 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.3728+67G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162846 | ||||||
chr22:41162859
|
A | G | 1 | a0001c0002t0013g0166 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3728+80A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162859 | ||||||
chr22:41162917
|
A | G | 1 | a0001c0004t0005g0029 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3728+138A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162917 | ||||||
chr22:41162920
|
C | T | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3728+141C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162920 | ||||||
chr22:41162991
|
T | G | 10 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(7): Show | 10 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.3728+212T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41162991 | ||||||
chr22:41163068
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3728+289G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163068 | ||||||
chr22:41163173
|
C | A | 1 | a0007c0015t0002g0024 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.3728+394C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163173 | ||||||
chr22:41163211
|
A | G | 194 | a0001c0001t0008g0238a0001c0002t0001g0103a0001c0002t0003g0115others(191): Show | 194 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.3728+432A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163211 | ||||||
chr22:41163218
|
G | A | 4 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0048others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3728+439G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163218 | ||||||
chr22:41163254
|
T | C | 6 | a0002c0003t0001g0155a0002c0003t0001g0181a0002c0003t0001g0182others(3): Show | 6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.3728+475T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163254 | ||||||
chr22:41163297
|
T | TAGTGGCG others(5): Show |
1 | a0001c0005t0072g0113 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3728+519_3728+530d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163297 | |||||
chr22:41163422
|
G | A | 1 | a0001c0001t0019g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3729-631G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163422 | ||||||
chr22:41163434
|
C | CA | 48 | a0001c0001t0002g0211a0001c0001t0002g0212a0001c0001t0002g0237others(45): Show | 48 | HG00544.hp1 HG00597.hp2 HG00609.hp2 others(45): Show |
intron_variant | MODIFIER | c.3729-598dupA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | |||||
chr22:41163434
|
C | CAA | 8 | a0001c0004t0003g0027a0001c0004t0005g0019a0001c0004t0007g0039others(5): Show | 8 | HG01109.hp2 HG02027.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.3729-599_3729-598d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | |||||
chr22:41163434
|
CA | C | 8 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0025g0188others(5): Show | 8 | HG01070.hp1 HG01934.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.3729-598delA | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr22 | 41163434 | |||||
chr22:41163959
|
C | T | 1 | a0001c0002t0063g0089 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3729-94C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 21/30 | chr22 | 41163959 | ||||||
chr22:41164647
|
G | T | 1 | a0003c0008t0005g0203 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.3806+517G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164647 | ||||||
chr22:41164725
|
G | A | 1 | a0001c0004t0004g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3806+595G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164725 | ||||||
chr22:41164832
|
T | C | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3806+702T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164832 | ||||||
chr22:41164876
|
C | A | 1 | a0001c0001t0010g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3806+746C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41164876 | ||||||
chr22:41165126
|
T | C | 2 | a0001c0002t0030g0066a0001c0002t0050g0061 | 2 | NA18988.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.3806+996T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165126 | ||||||
chr22:41165271
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.3806+1141G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165271 | ||||||
chr22:41165356
|
C | T | 1 | a0001c0002t0009g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3806+1226C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165356 | ||||||
chr22:41165391
|
A | G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3807-1208A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165391 | ||||||
chr22:41165441
|
G | A | 1 | a0001c0001t0011g0252 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.3807-1158G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165441 | ||||||
chr22:41165446
|
A | G | 30 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(27): Show | 30 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(27): Show |
intron_variant | MODIFIER | c.3807-1153A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165446 | ||||||
chr22:41165511
|
C | T | 4 | a0002c0003t0018g0138a0002c0003t0018g0144a0002c0003t0018g0145others(1): Show | 4 | HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.3807-1088C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165511 | ||||||
chr22:41165678
|
C | T | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.3807-921C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165678 | ||||||
chr22:41165679
|
T | C | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3807-920T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165679 | ||||||
chr22:41165683
|
G | A | 1 | a0001c0005t0017g0107 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3807-916G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165683 | ||||||
chr22:41165781
|
A | C | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3807-818A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165781 | ||||||
chr22:41165832
|
T | G | 1 | a0001c0004t0026g0004 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3807-767T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165832 | ||||||
chr22:41165909
|
C | G | 8 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(5): Show | 8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.3807-690C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41165909 | ||||||
chr22:41166173
|
A | G | 277 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(274): Show | 277 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
intron_variant | MODIFIER | c.3807-426A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41166173 | ||||||
chr22:41166292
|
C | T | 1 | a0001c0002t0009g0074 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.3807-307C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 22/30 | chr22 | 41166292 | ||||||
chr22:41166735
|
G | C | 1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3874+69G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41166735 | ||||||
chr22:41167019
|
A | G | 1 | a0001c0001t0002g0245 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3874+353A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167019 | ||||||
chr22:41167020
|
G | A | 1 | a0001c0002t0009g0079 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3874+354G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167020 | ||||||
chr22:41167193
|
T | G | 1 | a0002c0003t0013g0137 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3874+527T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167193 | ||||||
chr22:41167336
|
T | C | 4 | a0001c0007t0003g0198a0001c0007t0066g0194a0001c0007t0067g0192others(1): Show | 4 | HG02258.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.3874+670T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167336 | ||||||
chr22:41167418
|
A | G | 1 | a0001c0002t0009g0127 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.3874+752A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167418 | ||||||
chr22:41167533
|
A | G | 1 | a0001c0018t0052g0123 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.3874+867A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167533 | ||||||
chr22:41167560
|
T | G | 1 | a0001c0001t0011g0236 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.3875-889T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167560 | ||||||
chr22:41167560
|
T | TTG | 4 | a0001c0001t0003g0268a0002c0003t0001g0147a0002c0003t0001g0175others(1): Show | 4 | HG00735.hp1 HG01943.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-864d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167560 | |||||
chr22:41167560
|
TTG | T | 4 | a0001c0001t0012g0292a0001c0001t0024g0283a0001c0005t0016g0106others(1): Show | 4 | HG01261.hp2 HG01884.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-864d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167560 | |||||
chr22:41167570
|
GTGTGTGT others(15): Show |
G | 2 | a0001c0006t0003g0044a0001c0006t0010g0042 | 2 | HG01891.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3875-877_3875-856d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167570 | |||||
chr22:41167572
|
G | A | 1 | a0001c0006t0007g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3875-877G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167572 | ||||||
chr22:41167572
|
GTGTGTGT others(17): Show |
G | 1 | a0001c0006t0046g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3875-875_3875-852d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(19): Show |
G | 1 | a0001c0006t0007g0046 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3875-875_3875-850d others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(21): Show |
G | 1 | a0001c0006t0007g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3875-875_3875-848d others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(27): Show |
G | 8 | a0001c0002t0006g0062a0001c0002t0006g0084a0001c0002t0021g0300others(5): Show | 8 | HG00609.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-875_3875-842d others(36): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(29): Show |
G | 8 | a0001c0002t0006g0082a0001c0002t0009g0127a0001c0002t0021g0052others(5): Show | 8 | HG00140.hp1 HG00323.hp2 HG03017.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-875_3875-840d others(38): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(31): Show |
G | 56 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(53): Show | 56 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.3875-875_3875-838d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167572
|
GTGTGTGT others(58): Show |
G | 5 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(2): Show | 5 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-873_3875-809d others(67): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167572 | |||||
chr22:41167574
|
G | A | 2 | a0001c0002t0027g0116a0001c0006t0007g0048 | 2 | HG03209.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.3875-875G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167574 | ||||||
chr22:41167576
|
G | A | 1 | a0001c0006t0007g0048 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3875-873G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167576 | ||||||
chr22:41167576
|
GTGTGTGT others(5): Show |
G | 1 | a0001c0001t0007g0286 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3875-871_3875-860d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | |||||
chr22:41167576
|
GTGTGTGT others(9): Show |
G | 1 | a0001c0001t0007g0288 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3875-871_3875-856d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | |||||
chr22:41167576
|
GTGTGTGT others(11): Show |
G | 2 | a0001c0001t0007g0287a0001c0005t0075g0134 | 2 | HG02976.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3875-871_3875-854d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | |||||
chr22:41167576
|
GTGTGTGT others(27): Show |
G | 1 | a0002c0003t0001g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.3875-871_3875-838d others(36): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | |||||
chr22:41167576
|
GTGTGTGT others(31): Show |
G | 2 | a0001c0005t0016g0109a0001c0005t0016g0110 | 2 | HG02717.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3875-871_3875-834d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167576 | |||||
chr22:41167578
|
G | A | 2 | a0001c0005t0072g0113a0001c0006t0007g0048 | 2 | HG01884.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3875-871G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167578 | ||||||
chr22:41167578
|
GTGTGTGT others(5): Show |
G | 2 | a0001c0001t0002g0206a0001c0001t0002g0209 | 2 | HG01433.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.3875-869_3875-858d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167578
|
GTGTGTGT others(7): Show |
G | 3 | a0001c0001t0002g0237a0001c0001t0005g0210a0001c0005t0016g0135 | 3 | HG00099.hp1 HG02738.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3875-869_3875-856d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167578
|
GTGTGTGT others(9): Show |
G | 1 | a0001c0005t0017g0111 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3875-869_3875-854d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167578
|
GTGTGTGT others(25): Show |
G | 1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3875-869_3875-838d others(34): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167578
|
GTGTGTGT others(29): Show |
G | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3875-869_3875-834d others(38): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167578
|
GTGTGTGT others(31): Show |
G | 1 | a0001c0002t0027g0116 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3875-869_3875-832d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167578 | |||||
chr22:41167580
|
G | A | 6 | a0001c0005t0016g0106a0001c0005t0017g0107a0001c0005t0017g0108others(3): Show | 6 | HG01884.hp1 HG02257.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.3875-869G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167580 | ||||||
chr22:41167580
|
G | GTATATAT others(9): Show |
1 | a0001c0001t0012g0290 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3875-868_3875-867i others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(3): Show |
G | 1 | a0001c0007t0067g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3875-867_3875-858d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(5): Show |
G | 2 | a0001c0002t0032g0101a0001c0002t0032g0102 | 2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3875-867_3875-856d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(13): Show |
G | 5 | a0001c0004t0003g0005a0001c0004t0003g0009a0001c0004t0003g0012others(2): Show | 5 | HG02723.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-867_3875-848d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(15): Show |
G | 8 | a0001c0004t0003g0003a0001c0004t0003g0008a0001c0004t0004g0006others(5): Show | 8 | HG02109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-867_3875-846d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(17): Show |
G | 11 | a0001c0002t0005g0018a0001c0004t0002g0033a0001c0004t0003g0014others(8): Show | 11 | HG02056.hp2 HG02083.hp2 NA18955.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-867_3875-844d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167580
|
GTGTGTAT others(19): Show |
G | 11 | a0001c0004t0005g0019a0001c0004t0005g0029a0001c0004t0007g0039others(8): Show | 11 | HG00597.hp2 HG02027.hp1 HG02132.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-867_3875-842d others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167580 | |||||
chr22:41167581
|
TGTGTATA others(30): Show |
T | 1 | a0001c0004t0007g0001 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3875-867_3875-831d others(39): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167581 | ||||||
chr22:41167582
|
G | A | 11 | a0001c0001t0012g0289a0001c0001t0012g0290a0001c0001t0012g0293others(8): Show | 11 | HG01433.hp2 HG01884.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.3875-867G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167582 | ||||||
chr22:41167582
|
G | GTATATAT others(5): Show |
1 | a0001c0001t0038g0275 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3875-866_3875-865i others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(3): Show |
G | 2 | a0001c0002t0013g0166a0001c0002t0014g0167 | 2 | HG02630.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-856d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(5): Show |
G | 4 | a0001c0002t0014g0141a0001c0002t0014g0164a0001c0002t0014g0165others(1): Show | 4 | HG02280.hp1 HG03130.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-865_3875-854d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(7): Show |
G | 2 | a0001c0001t0011g0271a0001c0001t0011g0276 | 2 | HG01496.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-852d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(9): Show |
G | 9 | a0001c0001t0011g0273a0002c0003t0001g0131a0002c0003t0001g0148others(6): Show | 9 | HG00735.hp2 HG00738.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-865_3875-850d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(15): Show |
G | 1 | a0001c0004t0003g0010 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3875-865_3875-844d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(17): Show |
G | 2 | a0001c0004t0003g0022a0001c0004t0005g0031 | 2 | HG00544.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-842d others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167582
|
GTGTATAT others(21): Show |
G | 2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3875-865_3875-838d others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167582 | |||||
chr22:41167584
|
G | A | 15 | a0001c0001t0012g0289a0001c0001t0012g0290a0001c0001t0012g0293others(12): Show | 15 | HG01433.hp2 HG01884.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.3875-865G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167584 | ||||||
chr22:41167584
|
G | GTA | 5 | a0001c0001t0002g0227a0001c0001t0003g0256a0001c0001t0003g0260others(2): Show | 5 | HG00140.hp2 HG02698.hp1 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-814_3875-813d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTATATAT others(1): Show |
4 | a0001c0001t0008g0274a0001c0001t0024g0277a0002c0003t0001g0155others(1): Show | 4 | HG01070.hp2 HG02071.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-820_3875-813d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTATATAT others(3): Show |
2 | a0001c0001t0003g0278a0001c0001t0004g0282 | 2 | HG00639.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3875-822_3875-813d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTATATAT others(5): Show |
1 | a0002c0003t0001g0172 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.3875-824_3875-813d others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTATA | 3 | a0001c0001t0004g0266a0002c0003t0001g0171a0012c0031t0004g0247 | 3 | HG01069.hp1 HG01081.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTATAT others(1): Show |
3 | a0001c0001t0004g0258a0001c0001t0004g0264a0002c0003t0001g0170 | 3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTATAT others(7): Show |
2 | a0001c0001t0003g0269a0002c0003t0001g0140 | 2 | HG02698.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.3875-864_3875-863i others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTATAT others(11): Show |
1 | a0002c0003t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3875-864_3875-863i others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTGTAT others(11): Show |
1 | a0002c0003t0001g0173 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.3875-864_3875-863i others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
G | GTGTGTGT others(13): Show |
1 | a0002c0003t0001g0157 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3875-864_3875-863i others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTA | G | 10 | a0001c0001t0002g0214a0001c0001t0002g0230a0001c0001t0002g0245others(7): Show | 10 | HG00733.hp1 HG01346.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3875-814_3875-813d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATA | G | 11 | a0001c0001t0002g0212a0001c0001t0002g0213a0001c0001t0002g0228others(8): Show | 11 | HG01261.hp1 HG01981.hp2 HG03130.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-816_3875-813d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATA | G | 12 | a0001c0001t0002g0211a0001c0001t0002g0215a0001c0001t0002g0219others(9): Show | 12 | HG00558.hp2 HG02129.hp1 HG02165.hp2 others(9): Show |
intron_variant | MODIFIER | c.3875-818_3875-813d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(1): Show |
G | 8 | a0001c0001t0002g0217a0001c0001t0002g0225a0001c0001t0002g0244others(5): Show | 8 | HG00544.hp2 HG02970.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-820_3875-813d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(3): Show |
G | 3 | a0001c0001t0002g0222a0001c0001t0004g0257a0002c0003t0018g0138 | 3 | NA18992.hp2 NA18993.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3875-822_3875-813d others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(7): Show |
G | 1 | a0001c0001t0003g0249 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.3875-826_3875-813d others(16): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(9): Show |
G | 2 | a0001c0001t0041g0187a0002c0003t0013g0137 | 2 | HG01167.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-828_3875-813d others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(11): Show |
G | 6 | a0001c0001t0003g0255a0001c0022t0003g0296a0002c0003t0001g0149others(3): Show | 6 | HG00642.hp2 HG01070.hp1 HG01257.hp1 others(3): Show |
intron_variant | MODIFIER | c.3875-830_3875-813d others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(13): Show |
G | 3 | a0002c0003t0013g0136a0002c0003t0013g0174a0002c0027t0001g0179 | 3 | HG00323.hp1 HG00733.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3875-832_3875-813d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(15): Show |
G | 6 | a0002c0003t0001g0104a0002c0003t0001g0181a0002c0003t0001g0182others(3): Show | 6 | HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-834_3875-813d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(23): Show |
G | 5 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241others(2): Show | 5 | HG01106.hp1 HG01109.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.3875-842_3875-813d others(32): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(25): Show |
G | 1 | a0001c0001t0008g0254 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3875-844_3875-813d others(34): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(31): Show |
G | 1 | a0001c0001t0003g0279 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3875-850_3875-813d others(40): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167584
|
GTATATAT others(33): Show |
G | 3 | a0002c0003t0001g0049a0002c0003t0001g0050a0002c0003t0001g0133 | 3 | HG03017.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3875-852_3875-813d others(42): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167584 | |||||
chr22:41167586
|
A | G | 10 | a0001c0001t0002g0207a0001c0001t0002g0208a0001c0001t0002g0229others(7): Show | 10 | HG00280.hp1 HG01175.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.3875-863A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167586 | ||||||
chr22:41167586
|
A | T | 1 | a0001c0001t0002g0239 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3875-863A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167586 | ||||||
chr22:41167588
|
A | G | 8 | a0001c0001t0002g0230a0001c0001t0002g0245a0001c0001t0002g0246others(5): Show | 8 | HG00280.hp1 HG01346.hp2 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-861A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167588 | ||||||
chr22:41167590
|
A | G | 5 | a0001c0001t0002g0212a0001c0001t0002g0245a0001c0001t0015g0196others(2): Show | 5 | HG01981.hp2 HG02109.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-859A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167590 | ||||||
chr22:41167592
|
A | G | 8 | a0001c0001t0002g0219a0001c0001t0015g0195a0001c0001t0015g0196others(5): Show | 8 | HG02109.hp1 HG02129.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-857A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167592 | ||||||
chr22:41167594
|
A | G | 9 | a0001c0001t0002g0244a0001c0001t0005g0270a0001c0001t0015g0189others(6): Show | 9 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-855A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167594 | ||||||
chr22:41167596
|
A | G | 5 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(2): Show | 5 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.3875-853A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167596 | ||||||
chr22:41167598
|
A | G | 4 | a0001c0001t0015g0189a0001c0001t0015g0196a0001c0001t0025g0188others(1): Show | 4 | HG02109.hp1 HG02970.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-851A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167598 | ||||||
chr22:41167600
|
A | G | 3 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196 | 3 | HG02886.hp2 HG03486.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3875-849A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167600 | ||||||
chr22:41167602
|
A | G | 2 | a0001c0001t0041g0187a0002c0003t0013g0137 | 2 | HG01167.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-847A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167602 | ||||||
chr22:41167604
|
A | G | 3 | a0001c0001t0041g0187a0001c0022t0003g0296a0002c0003t0001g0180 | 3 | HG02559.hp2 HG03688.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3875-845A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167604 | ||||||
chr22:41167606
|
A | G | 1 | a0001c0001t0041g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3875-843A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167606 | ||||||
chr22:41167608
|
A | G | 2 | a0002c0003t0001g0104a0002c0003t0001g0184 | 2 | HG04115.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.3875-841A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167608 | ||||||
chr22:41167610
|
A | G | 8 | a0001c0002t0006g0062a0001c0002t0006g0084a0001c0002t0021g0300others(5): Show | 8 | HG00609.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-839A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167610 | ||||||
chr22:41167612
|
A | G | 8 | a0001c0002t0006g0082a0001c0002t0009g0127a0001c0002t0021g0052others(5): Show | 8 | HG00140.hp1 HG00323.hp2 HG03017.hp1 others(5): Show |
intron_variant | MODIFIER | c.3875-837A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167612 | ||||||
chr22:41167614
|
A | G | 56 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(53): Show | 56 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.3875-835A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167614 | ||||||
chr22:41167615
|
T | A | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3875-834T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167615 | ||||||
chr22:41167618
|
A | G | 1 | a0001c0001t0008g0254 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3875-831A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167618 | ||||||
chr22:41167626
|
A | G | 3 | a0002c0003t0001g0049a0002c0003t0001g0050a0002c0003t0001g0133 | 3 | HG03017.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3875-823A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167626 | ||||||
chr22:41167813
|
T | TG | 4 | a0001c0001t0007g0286a0002c0003t0001g0049a0002c0003t0001g0147others(1): Show | 4 | HG02965.hp2 HG03490.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.3875-635dupG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167813 | |||||
chr22:41167814
|
G | GGT | 18 | a0001c0001t0041g0187a0001c0002t0014g0165a0001c0002t0014g0168others(15): Show | 18 | HG00323.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTT | 16 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0032g0102others(13): Show | 16 | HG00099.hp2 HG00280.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTT | 13 | a0002c0003t0001g0146a0002c0003t0001g0148a0002c0003t0001g0151others(10): Show | 13 | HG00423.hp2 HG00738.hp1 HG01069.hp2 others(10): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTGTT others(3): Show |
2 | a0001c0011t0031g0190a0001c0011t0031g0191 | 2 | NA18980.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3875-635_3875-634i others(12): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTT | 9 | a0001c0007t0066g0194a0002c0003t0001g0149a0002c0003t0001g0152others(6): Show | 9 | HG00642.hp2 HG01106.hp2 HG01167.hp2 others(6): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTTT | 6 | a0001c0001t0015g0195a0001c0001t0025g0188a0001c0002t0014g0164others(3): Show | 6 | HG01943.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-635_3875-634i others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTTTT others(4): Show |
1 | a0001c0001t0015g0196 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3875-635_3875-634i others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTTTT others(5): Show |
1 | a0002c0003t0001g0140 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3875-635_3875-634i others(14): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTTTT others(9): Show |
1 | a0001c0001t0047g0285 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3875-635_3875-634i others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
G | GGTTTTTT others(15): Show |
1 | a0001c0028t0015g0197 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3875-635_3875-634i others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
GTTTTTTT others(4): Show |
G | 1 | a0002c0003t0013g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3875-634_3875-624d others(13): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167814 | ||||||
chr22:41167814
|
GTTTTTTT others(6): Show |
G | 1 | a0001c0002t0014g0167 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3875-623_3875-611d others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | |||||
chr22:41167814
|
GTTTTTTT others(13): Show |
G | 1 | a0001c0002t0065g0083 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3875-623_3875-604d others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | |||||
chr22:41167814
|
GTTTTTTT others(15): Show |
G | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3875-623_3875-602d others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167814 | |||||
chr22:41167815
|
T | G | 138 | a0001c0001t0003g0259a0001c0001t0003g0268a0001c0001t0003g0269others(135): Show | 138 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.3875-634T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167815 | ||||||
chr22:41167816
|
T | G | 1 | a0001c0002t0006g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3875-633T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167816 | ||||||
chr22:41167818
|
T | G | 2 | a0001c0006t0007g0046a0001c0006t0007g0048 | 2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.3875-631T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167818 | ||||||
chr22:41167818
|
TTTTTTTT others(1): Show |
T | 18 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0064g0053others(15): Show | 18 | HG00597.hp2 HG01934.hp2 HG02083.hp2 others(15): Show |
intron_variant | MODIFIER | c.3875-623_3875-616d others(10): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167818 | |||||
chr22:41167819
|
T | G | 4 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0010g0042others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-630T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167819 | ||||||
chr22:41167819
|
TTTTTTTG | T | 23 | a0001c0004t0002g0033a0001c0004t0003g0005a0001c0004t0003g0012others(20): Show | 23 | HG00544.hp1 HG01884.hp1 HG02132.hp1 others(20): Show |
intron_variant | MODIFIER | c.3875-623_3875-617d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167819 | |||||
chr22:41167820
|
T | G | 2 | a0001c0001t0012g0294a0001c0006t0007g0045 | 2 | HG02280.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.3875-629T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167820 | ||||||
chr22:41167820
|
TTTTTTG | T | 40 | a0001c0002t0006g0063a0001c0002t0006g0082a0001c0002t0006g0084others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(37): Show |
intron_variant | MODIFIER | c.3875-623_3875-618d others(8): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167820 | |||||
chr22:41167821
|
TTTTTG | T | 28 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(25): Show | 28 | HG00408.hp2 HG00673.hp2 HG01169.hp1 others(25): Show |
intron_variant | MODIFIER | c.3875-623_3875-619d others(7): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167821 | |||||
chr22:41167822
|
TTTTG | T | 8 | a0001c0001t0011g0252a0001c0002t0009g0121a0001c0002t0020g0099others(5): Show | 8 | HG01175.hp1 HG02258.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.3875-623_3875-620d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167822 | |||||
chr22:41167825
|
TG | T | 3 | a0001c0001t0007g0287a0001c0001t0007g0288a0001c0005t0016g0135 | 3 | HG02976.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3875-623delG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167825 | ||||||
chr22:41167826
|
G | GT | 24 | a0001c0001t0002g0211a0001c0001t0002g0213a0001c0001t0002g0214others(21): Show | 24 | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.3875-598dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167826 | |||||
chr22:41167826
|
G | GTT | 7 | a0001c0001t0003g0269a0001c0001t0004g0251a0001c0001t0004g0282others(4): Show | 7 | HG00735.hp2 HG01069.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.3875-599_3875-598d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | 41167826 | |||||
chr22:41167826
|
G | T | 73 | a0001c0001t0007g0286a0001c0001t0015g0189a0001c0001t0015g0195others(70): Show | 73 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.3875-623G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167826 | ||||||
chr22:41167827
|
T | G | 4 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0010g0042others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-622T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167827 | ||||||
chr22:41167828
|
T | G | 1 | a0001c0002t0014g0167 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3875-621T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167828 | ||||||
chr22:41167834
|
T | G | 1 | a0001c0006t0007g0045 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3875-615T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167834 | ||||||
chr22:41167835
|
T | G | 2 | a0001c0001t0002g0239a0001c0002t0065g0083 | 2 | HG00639.hp2 HG00642.hp1 |
intron_variant | MODIFIER | c.3875-614T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167835 | ||||||
chr22:41167837
|
T | G | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3875-612T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167837 | ||||||
chr22:41167838
|
T | G | 2 | a0001c0001t0004g0257a0001c0001t0011g0271 | 2 | HG01496.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.3875-611T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167838 | ||||||
chr22:41167841
|
T | G | 1 | a0001c0001t0010g0265 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3875-608T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167841 | ||||||
chr22:41167857
|
A | G | 1 | a0001c0004t0003g0035 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.3875-592A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167857 | ||||||
chr22:41167865
|
G | A | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3875-584G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167865 | ||||||
chr22:41167914
|
C | T | 73 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(70): Show | 73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.3875-535C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167914 | ||||||
chr22:41167924
|
C | A | 2 | a0001c0004t0003g0027a0001c0004t0035g0017 | 2 | NA19054.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.3875-525C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167924 | ||||||
chr22:41167932
|
G | T | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3875-517G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41167932 | ||||||
chr22:41168168
|
A | G | 2 | a0001c0001t0038g0275a0001c0001t0039g0272 | 2 | HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.3875-281A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168168 | ||||||
chr22:41168234
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3875-215G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168234 | ||||||
chr22:41168283
|
T | C | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.3875-166T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168283 | ||||||
chr22:41168350
|
G | A | 1 | a0001c0001t0004g0257 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.3875-99G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | 41168350 | ||||||
chr22:41168704
|
C | A | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4026-17C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 24/30 | chr22 | 41168704 | ||||||
chr22:41168896
|
G | A | 2 | a0001c0002t0009g0127a0001c0002t0048g0120 | 2 | NA18947.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.4172+29G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41168896 | ||||||
chr22:41169047
|
C | T | 9 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(6): Show | 9 | HG01175.hp2 HG02109.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.4172+180C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169047 | ||||||
chr22:41169048
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4172+181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169048 | ||||||
chr22:41169168
|
ATGTGAAA others(45): Show |
A | 1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4172+303_4173-282d others(54): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr22 | 41169168 | |||||
chr22:41169242
|
G | A | 2 | a0001c0001t0002g0209a0001c0001t0005g0210 | 2 | HG00099.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.4173-261G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169242 | ||||||
chr22:41169281
|
A | G | 75 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(72): Show | 75 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.4173-222A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169281 | ||||||
chr22:41169427
|
T | C | 1 | a0001c0021t0005g0298 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4173-76T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169427 | ||||||
chr22:41169434
|
C | A | 1 | a0001c0004t0003g0022 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.4173-69C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 25/30 | chr22 | 41169434 | ||||||
chr22:41169649
|
T | C | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4286+33T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169649 | ||||||
chr22:41169774
|
A | G | 2 | a0002c0003t0001g0049a0002c0003t0001g0050 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.4286+158A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169774 | ||||||
chr22:41169823
|
A | G | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.4286+207A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41169823 | ||||||
chr22:41170310
|
T | C | 1 | a0001c0010t0005g0201 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4287-96T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 26/30 | chr22 | 41170310 | ||||||
chr22:41170591
|
C | T | 58 | a0001c0002t0013g0166a0001c0002t0014g0141a0001c0002t0014g0164others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.4452+20C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170591 | ||||||
chr22:41170653
|
C | CT | 66 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(63): Show | 66 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4452+108dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170653
|
C | CTT | 23 | a0001c0001t0002g0211a0001c0001t0002g0212a0001c0001t0002g0213others(20): Show | 23 | HG01106.hp1 HG01109.hp2 HG01346.hp2 others(20): Show |
intron_variant | MODIFIER | c.4452+107_4452+108d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170653
|
C | CTTT | 12 | a0001c0001t0002g0245a0001c0002t0029g0124a0001c0005t0016g0106others(9): Show | 12 | HG02056.hp1 HG02145.hp2 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.4452+106_4452+108d others(5): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170653
|
CT | C | 54 | a0001c0002t0001g0103a0001c0002t0004g0097a0001c0002t0013g0166others(51): Show | 54 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.4452+108delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170653
|
CTTTT | C | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4452+105_4452+108d others(6): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170653
|
CTTTTTTT | C | 34 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(31): Show | 34 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(31): Show |
intron_variant | MODIFIER | c.4452+102_4452+108d others(9): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170653 | |||||
chr22:41170698
|
G | C | 1 | a0001c0001t0002g0223 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4452+127G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170698 | ||||||
chr22:41170724
|
C | T | 73 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(70): Show | 73 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.4452+153C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170724 | ||||||
chr22:41170819
|
A | G | 185 | a0001c0001t0002g0234a0001c0001t0011g0252a0001c0002t0001g0103others(182): Show | 185 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(182): Show |
intron_variant | MODIFIER | c.4452+248A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170819 | ||||||
chr22:41170853
|
C | T | 3 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288 | 3 | HG02965.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4452+282C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170853 | ||||||
chr22:41170864
|
C | T | 298 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(295): Show | 298 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
intron_variant | MODIFIER | c.4452+293C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170864 | ||||||
chr22:41170865
|
G | A | 1 | a0001c0001t0011g0276 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4452+294G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170865 | ||||||
chr22:41170870
|
A | G | 3 | a0001c0006t0007g0045a0001c0006t0007g0046a0001c0006t0046g0047 | 3 | HG02486.hp1 HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4452+299A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170870 | ||||||
chr22:41170888
|
C | G | 2 | a0002c0003t0001g0157a0002c0003t0001g0177 | 2 | NA20300.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4452+317C>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170888 | ||||||
chr22:41170943
|
A | G | 4 | a0001c0001t0011g0252a0001c0001t0011g0271a0001c0001t0011g0276others(1): Show | 4 | HG01496.hp1 HG01934.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.4452+372A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170943 | ||||||
chr22:41170954
|
T | C | 1 | a0001c0001t0002g0237 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4452+383T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41170954 | ||||||
chr22:41170962
|
C | CT | 82 | a0001c0001t0002g0229a0001c0001t0007g0286a0001c0001t0007g0287others(79): Show | 82 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(79): Show |
intron_variant | MODIFIER | c.4452+407dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170962 | |||||
chr22:41170962
|
CT | C | 12 | a0001c0001t0003g0260a0001c0005t0016g0106a0001c0005t0016g0109others(9): Show | 12 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.4452+407delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41170962 | |||||
chr22:41171160
|
G | A | 3 | a0002c0003t0001g0149a0002c0003t0001g0158a0002c0029t0001g0154 | 3 | HG00642.hp2 HG01070.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.4452+589G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171160 | ||||||
chr22:41171269
|
G | A | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4452+698G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171269 | ||||||
chr22:41171387
|
G | A | 9 | a0001c0005t0016g0106a0001c0005t0016g0109a0001c0005t0016g0110others(6): Show | 9 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.4452+816G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171387 | ||||||
chr22:41171407
|
G | T | 2 | a0001c0002t0006g0063a0001c0002t0020g0117 | 2 | HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.4452+836G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171407 | ||||||
chr22:41171509
|
A | G | 5 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(2): Show | 5 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4452+938A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171509 | ||||||
chr22:41171531
|
G | T | 277 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(274): Show | 277 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
intron_variant | MODIFIER | c.4452+960G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171531 | ||||||
chr22:41171633
|
A | T | 8 | a0001c0002t0022g0069a0001c0002t0022g0098a0001c0002t0028g0072others(5): Show | 8 | HG02083.hp1 NA18960.hp2 NA18986.hp1 others(5): Show |
intron_variant | MODIFIER | c.4453-866A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171633 | ||||||
chr22:41171652
|
C | CT | 6 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(3): Show | 6 | HG01099.hp1 HG02559.hp2 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.4453-835dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41171652 | |||||
chr22:41171652
|
CT | C | 11 | a0001c0002t0028g0072a0001c0005t0016g0106a0001c0005t0016g0109others(8): Show | 11 | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.4453-835delT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr22 | 41171652 | |||||
chr22:41171667
|
A | G | 3 | a0002c0003t0001g0104a0002c0003t0001g0161a0002c0003t0001g0180 | 3 | HG01346.hp1 HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.4453-832A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171667 | ||||||
chr22:41171669
|
G | A | 1 | a0001c0002t0022g0086 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.4453-830G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171669 | ||||||
chr22:41171718
|
G | T | 198 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(195): Show | 198 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.4453-781G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171718 | ||||||
chr22:41171796
|
A | G | 2 | a0001c0001t0047g0285a0001c0022t0003g0296 | 2 | HG01099.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.4453-703A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41171796 | ||||||
chr22:41172138
|
A | C | 1 | a0001c0005t0016g0106 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4453-361A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172138 | ||||||
chr22:41172181
|
G | A | 4 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241others(1): Show | 4 | HG01106.hp1 HG01516.hp2 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.4453-318G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172181 | ||||||
chr22:41172264
|
A | T | 1 | a0011c0012t0018g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4453-235A>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172264 | ||||||
chr22:41172308
|
T | C | 4 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(1): Show | 4 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.4453-191T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172308 | ||||||
chr22:41172334
|
A | G | 6 | a0001c0009t0002g0199a0001c0009t0002g0200a0001c0010t0005g0201others(3): Show | 6 | HG01109.hp2 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.4453-165A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172334 | ||||||
chr22:41172433
|
T | G | 1 | a0001c0001t0025g0188 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.4453-66T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172433 | ||||||
chr22:41172476
|
T | C | 131 | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(128): Show | 131 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.4453-23T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 27/30 | chr22 | 41172476 | ||||||
chr22:41173000
|
A | G | 4 | a0001c0001t0003g0259a0001c0001t0008g0253a0001c0001t0008g0254others(1): Show | 4 | HG00140.hp2 HG01070.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4617+337A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173000 | ||||||
chr22:41173021
|
C | A | 1 | a0002c0003t0001g0142 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4617+358C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173021 | ||||||
chr22:41173039
|
A | G | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4617+376A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173039 | ||||||
chr22:41173120
|
T | C | 59 | a0001c0002t0001g0103a0001c0002t0013g0166a0001c0002t0014g0141others(56): Show | 59 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.4617+457T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173120 | ||||||
chr22:41173138
|
C | T | 1 | a0001c0005t0017g0111 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4617+475C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173138 | ||||||
chr22:41173297
|
C | T | 1 | a0002c0003t0001g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.4618-326C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173297 | ||||||
chr22:41173314
|
A | G | 5 | a0001c0002t0014g0141a0001c0002t0014g0164a0001c0002t0014g0165others(2): Show | 5 | HG02280.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4618-309A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173314 | ||||||
chr22:41173412
|
A | G | 1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4618-211A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173412 | ||||||
chr22:41173442
|
G | A | 3 | a0001c0004t0004g0011a0001c0004t0044g0015a0001c0013t0004g0007 | 3 | HG02109.hp2 HG02145.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.4618-181G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173442 | ||||||
chr22:41173492
|
G | C | 1 | a0011c0012t0018g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4618-131G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173492 | ||||||
chr22:41173496
|
A | G | 1 | a0011c0012t0018g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4618-127A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173496 | ||||||
chr22:41173572
|
A | G | 1 | a0001c0022t0003g0296 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4618-51A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173572 | ||||||
chr22:41173605
|
C | T | 66 | a0001c0002t0003g0115a0001c0002t0005g0070a0001c0002t0006g0055others(63): Show | 66 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4618-18C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 28/30 | chr22 | 41173605 | ||||||
chr22:41173818
|
G | A | 8 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(5): Show | 8 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.4779+34G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173818 | ||||||
chr22:41173882
|
C | A | 8 | a0002c0003t0001g0149a0002c0003t0001g0158a0002c0003t0013g0136others(5): Show | 8 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.4779+98C>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173882 | ||||||
chr22:41173883
|
G | A | 66 | a0001c0002t0003g0115a0001c0002t0005g0070a0001c0002t0006g0055others(63): Show | 66 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.4779+99G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41173883 | ||||||
chr22:41174067
|
T | C | 181 | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(178): Show | 181 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(178): Show |
intron_variant | MODIFIER | c.4779+283T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174067 | ||||||
chr22:41174141
|
C | CT | 59 | a0001c0002t0001g0103a0001c0002t0013g0166a0001c0002t0014g0141others(56): Show | 59 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.4779+358dupT | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr22 | 41174141 | |||||
chr22:41174152
|
C | T | 1 | a0006c0017t0006g0067 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4779+368C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174152 | ||||||
chr22:41174257
|
G | A | 40 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
intron_variant | MODIFIER | c.4779+473G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174257 | ||||||
chr22:41174274
|
A | C | 1 | a0011c0012t0018g0143 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4779+490A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174274 | ||||||
chr22:41174563
|
G | A | 2 | a0002c0003t0001g0171a0002c0003t0073g0132 | 2 | HG01069.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.4779+779G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174563 | ||||||
chr22:41174627
|
A | G | 45 | a0001c0001t0002g0206a0001c0001t0002g0207a0001c0001t0002g0208others(42): Show | 45 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.4779+843A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174627 | ||||||
chr22:41174665
|
A | G | 1 | a0001c0001t0002g0227 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.4779+881A>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174665 | ||||||
chr22:41174741
|
T | C | 71 | a0001c0002t0003g0115a0001c0002t0004g0087a0001c0002t0004g0092others(68): Show | 71 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.4779+957T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174741 | ||||||
chr22:41174799
|
G | A | 3 | a0002c0003t0001g0156a0002c0003t0001g0157a0002c0003t0001g0177 | 3 | HG00099.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4779+1015G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174799 | ||||||
chr22:41174953
|
C | CAAGCAGA others(45): Show |
1 | a0002c0003t0001g0171 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4779+1169_4779+117 others(56): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41174953 | ||||||
chr22:41175044
|
G | A | 1 | a0001c0007t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4780-1203G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175044 | ||||||
chr22:41175055
|
C | T | 1 | a0001c0004t0003g0027 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.4780-1192C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175055 | ||||||
chr22:41175272
|
G | GAC | 206 | a0001c0001t0007g0286a0001c0001t0007g0287a0001c0001t0007g0288others(203): Show | 206 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(203): Show |
intron_variant | MODIFIER | c.4780-974_4780-973d others(4): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr22 | 41175272 | |||||
chr22:41175275
|
T | A | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4780-972T>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175275 | ||||||
chr22:41175276
|
G | C | 7 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.4780-971G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175276 | ||||||
chr22:41175279
|
A | C | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4780-968A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175279 | ||||||
chr22:41175388
|
G | T | 1 | a0002c0003t0018g0145 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4780-859G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175388 | ||||||
chr22:41175407
|
T | G | 1 | a0002c0003t0001g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.4780-840T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175407 | ||||||
chr22:41175497
|
A | C | 1 | a0001c0030t0042g0041 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4780-750A>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175497 | ||||||
chr22:41175501
|
T | G | 13 | a0001c0006t0003g0044a0001c0006t0007g0043a0001c0006t0007g0045others(10): Show | 13 | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.4780-746T>G | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175501 | ||||||
chr22:41175764
|
C | T | 1 | a0001c0002t0009g0121 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.4780-483C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175764 | ||||||
chr22:41175855
|
G | C | 1 | a0001c0002t0059g0129 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.4780-392G>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41175855 | ||||||
chr22:41176118
|
G | T | 6 | a0001c0001t0015g0189a0001c0001t0015g0195a0001c0001t0015g0196others(3): Show | 6 | HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.4780-129G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | 41176118 | ||||||
chr22:41176537
|
C | T | 8 | a0002c0003t0001g0149a0002c0003t0001g0158a0002c0003t0013g0136others(5): Show | 8 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.5061+9C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176537 | ||||||
chr22:41176565
|
C | T | 1 | a0001c0001t0004g0282 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5061+37C>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176565 | ||||||
chr22:41176578
|
T | C | 1 | a0001c0023t0004g0250 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5061+50T>C | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176578 | ||||||
chr22:41176597
|
G | A | 3 | a0001c0002t0009g0093a0001c0002t0009g0094a0001c0002t0051g0065 | 3 | NA18968.hp2 NA18998.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.5061+69G>A | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176597 | ||||||
chr22:41176597
|
G | T | 1 | a0004c0020t0007g0186 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5061+69G>T | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | chr22 | 41176597 | ||||||
chr22:41176659
|
A | AG | 3 | a0001c0007t0066g0194a0001c0007t0067g0192a0008c0014t0068g0193 | 3 | HG03139.hp1 HG03209.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.5062-113dupG | EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr22 | 41176659 |