geneid | 548644 |
---|---|
ensemblid | ENSG00000285437.2 |
hgncid | 33853 |
symbol | POLR2J3 |
name | RNA polymerase II subunit J3 |
refseq_nuc | NM_001097615.3 |
refseq_prot | NP_001091084.2 |
ensembl_nuc | ENST00000621093.5 |
ensembl_prot | ENSP00000483328.1 |
mane_status | MANE Select |
chr | chr7 |
start | 102566966 |
end | 102572583 |
strand | - |
ver | v1.2 |
region | chr7:102566966-102572583 |
region5000 | chr7:102561966-102577583 |
regionname0 | POLR2J3_chr7_102566966_102572583 |
regionname5000 | POLR2J3_chr7_102561966_102577583 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 115 | 24 | 4 | 2 | 16 | 0 | 2 | 15 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002 | 0/0 | 115 | 18 | 0 | 1 | 17 | 0 | 0 | 16 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0003 | 0/0 | 115 | 16 | 0 | 1 | 14 | 0 | 1 | 14 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0004 | 0/0 | 115 | 5 | 0 | 0 | 4 | 0 | 1 | 4 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0005 | 0/0 | 115 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0006 | 0/0 | 115 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 348 | 16 | 0 | 1 | 14 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0002 | 0/0 | 348 | 14 | 1 | 1 | 10 | 0 | 2 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0003 | 0/0 | 348 | 13 | 0 | 1 | 12 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0004 | 0/0 | 348 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0005 | 0/0 | 348 | 5 | 0 | 0 | 4 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0006 | 0/0 | 348 | 4 | 2 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0007 | 0/0 | 348 | 4 | 1 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0008 | 0/0 | 348 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0009 | 0/0 | 348 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0010 | 0/0 | 348 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
c0011 | 0/0 | 348 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 148 | 40 | 3 | 2 | 32 | 0 | 3 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
t0002 | 0/0 | 148 | 22 | 1 | 1 | 19 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
t0003 | 0/0 | 148 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
t0004 | 0/0 | 148 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
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 | 7 | 0 | 1 | 5 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0002 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0003 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0004 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0006 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0007 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0009 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 0/0 | 348 | 14 | 1 | 1 | 10 | 0 | 2 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0006 | 0/0 | 348 | 4 | 2 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0007 | 0/0 | 348 | 4 | 1 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0010 | 0/0 | 348 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0011 | 0/0 | 348 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002c0003 | 0/0 | 348 | 13 | 0 | 1 | 12 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002c0004 | 0/0 | 348 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0003c0001 | 0/0 | 348 | 16 | 0 | 1 | 14 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0004c0005 | 0/0 | 348 | 5 | 0 | 0 | 4 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0005c0008 | 0/0 | 348 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0006c0009 | 0/0 | 348 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001 | 0/0 | 495 | 14 | 1 | 1 | 10 | 0 | 2 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0006t0001 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0006t0002 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0006t0003 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0007t0001 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0007t0002 | 0/0 | 495 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0010t0003 | 0/0 | 495 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0001c0011t0004 | 0/0 | 495 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002c0003t0001 | 0/0 | 495 | 11 | 0 | 1 | 10 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002c0003t0002 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0002c0004t0001 | 0/0 | 495 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0003c0001t0002 | 0/0 | 495 | 16 | 0 | 1 | 14 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0004c0005t0001 | 0/0 | 495 | 3 | 0 | 0 | 2 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0004c0005t0003 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0005c0008t0001 | 0/0 | 495 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
a0006c0009t0001 | 0/0 | 495 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | copy fasta | chr7 | 102561966 | 102577583 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001g0006 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0007 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0006t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0006t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0006t0003g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0007t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0007t0002g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0010t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0001c0011t0004g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0001g0003 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0001g0004 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0003t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0004t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0004t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0004t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0002c0004t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0001 | 0/0 | 7 | 0 | 1 | 5 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0002 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0003c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0004c0005t0001g0009 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0004c0005t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0004c0005t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0004c0005t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0005c0008t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0005c0008t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0005c0008t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0005c0008t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
a0006c0009t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00558 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | CHS | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG00558 | hp2 | a0001 | c0002 | t0001 | g0020 | EAS | CHS | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG01255 | hp1 | a0001 | c0011 | t0004 | g0041 | AMR | CLM | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG01255 | hp2 | a0003 | c0001 | t0002 | g0001 | AMR | CLM | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG01928 | hp1 | a0002 | c0003 | t0001 | g0024 | AMR | PEL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG01928 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | PEL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG03041 | hp1 | a0001 | c0007 | t0001 | g0023 | AFR | GWD | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG03041 | hp2 | a0001 | c0002 | t0001 | g0025 | AFR | GWD | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG03579 | hp1 | a0001 | c0006 | t0002 | g0018 | AFR | MSL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG03579 | hp2 | a0001 | c0006 | t0001 | g0033 | AFR | MSL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG04115 | hp1 | a0004 | c0005 | t0001 | g0009 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG04115 | hp2 | a0001 | c0002 | t0001 | g0007 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG04199 | hp1 | a0001 | c0002 | t0001 | g0022 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
HG04199 | hp2 | a0003 | c0001 | t0002 | g0001 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18939 | hp1 | a0003 | c0001 | t0002 | g0014 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18939 | hp2 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18941 | hp1 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18941 | hp2 | a0002 | c0003 | t0001 | g0026 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18946 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18946 | hp2 | a0006 | c0009 | t0001 | g0031 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18948 | hp1 | a0002 | c0004 | t0001 | g0029 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18948 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18952 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18952 | hp2 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18964 | hp1 | a0005 | c0008 | t0001 | g0034 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18964 | hp2 | a0002 | c0004 | t0001 | g0032 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18965 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18965 | hp2 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18973 | hp1 | a0002 | c0004 | t0001 | g0030 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18973 | hp2 | a0005 | c0008 | t0001 | g0035 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18976 | hp1 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18976 | hp2 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18981 | hp1 | a0004 | c0005 | t0001 | g0027 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18981 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18983 | hp1 | a0003 | c0001 | t0002 | g0015 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18983 | hp2 | a0001 | c0006 | t0003 | g0011 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18988 | hp1 | a0004 | c0005 | t0001 | g0009 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18988 | hp2 | a0002 | c0004 | t0001 | g0010 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18989 | hp1 | a0002 | c0004 | t0001 | g0010 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18989 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18990 | hp1 | a0002 | c0003 | t0002 | g0012 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18990 | hp2 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18991 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18991 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18997 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18997 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18998 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA18998 | hp2 | a0001 | c0006 | t0003 | g0011 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19001 | hp1 | a0005 | c0008 | t0001 | g0037 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19001 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19003 | hp1 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19003 | hp2 | a0001 | c0010 | t0003 | g0038 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19004 | hp1 | a0001 | c0002 | t0001 | g0028 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19004 | hp2 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19055 | hp1 | a0002 | c0003 | t0001 | g0021 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19055 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19060 | hp1 | a0003 | c0001 | t0002 | g0016 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19060 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19070 | hp1 | a0003 | c0001 | t0002 | g0017 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19070 | hp2 | a0002 | c0003 | t0002 | g0013 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19076 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19076 | hp2 | a0005 | c0008 | t0001 | g0036 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19080 | hp1 | a0004 | c0005 | t0003 | g0039 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19080 | hp2 | a0004 | c0005 | t0003 | g0040 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19089 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19089 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19091 | hp1 | a0001 | c0002 | t0001 | g0019 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
NA19091 | hp2 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:102568040
|
A | C | 1 | a0002 | 18 | HG00558.hp1 HG01928.hp1 NA18941.hp2 others(15): Show |
missense_variant | MODERATE | c.285T>G | p.Ser95Arg | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102568040 | ||
chr7:102568092
|
G | A | 1 | a0004 | 5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
missense_variant | MODERATE | c.233C>T | p.Pro78Leu | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 295/495 | 233/348 | 78/115 | chr7 | 102568092 | ||
chr7:102569873
|
G | C | 1 | a0003 | 16 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(13): Show |
missense_variant | MODERATE | c.102C>G | p.Ile34Met | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 164/495 | 102/348 | 34/115 | chr7 | 102569873 | ||
chr7:102569891
|
A | C | 1 | a0006 | 1 | NA18946.hp2 | missense_variant | MODERATE | c.84T>G | p.Asn28Lys | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 146/495 | 84/348 | 28/115 | chr7 | 102569891 | ||
chr7:102572492
|
G | C | 1 | a0005 | 4 | NA18964.hp1 NA18973.hp2 NA19001.hp1 others(1): Show |
missense_variant | MODERATE | c.30C>G | p.Phe10Leu | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 92/495 | 30/348 | 10/115 | chr7 | 102572492 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:102568013
|
G | A | 1 | a0001c0011 | 1 | HG01255.hp1 | synonymous_variant | LOW | c.312C>T | p.Phe104Phe | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 374/495 | 312/348 | 104/115 | chr7 | 102568013 | ||
chr7:102568040
|
A | G | 4 | a0001c0002a0001c0010a0003c0001others(1): Show | 35 | HG00558.hp2 HG01255.hp2 HG01928.hp2 others(32): Show |
synonymous_variant | LOW | c.285T>C | p.Ser95Ser | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102568040 | ||
chr7:102569885
|
A | G | 5 | a0001c0006a0001c0010a0001c0011others(2): Show | 12 | HG01255.hp1 HG03579.hp1 HG03579.hp2 others(9): Show |
synonymous_variant | LOW | c.90T>C | p.Cys30Cys | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 152/495 | 90/348 | 30/115 | chr7 | 102569885 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:102572553
|
T | C | 1 | a0001c0011t0004 | 1 | HG01255.hp1 | 5_prime_UTR_variant | MODIFIER | c.-32A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 32 | chr7 | 102572553 | |||||
chr7:102572553
|
T | G | 3 | a0001c0006t0003a0001c0010t0003a0004c0005t0003 | 5 | NA18983.hp2 NA18998.hp2 NA19003.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-32A>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 32 | chr7 | 102572553 | |||||
chr7:102572565
|
C | T | 4 | a0001c0006t0002a0001c0007t0002a0002c0003t0002others(1): Show | 22 | HG01255.hp2 HG03579.hp1 HG04199.hp2 others(19): Show |
5_prime_UTR_variant | MODIFIER | c.-44G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 44 | chr7 | 102572565 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:102567268
|
C | G | 8 | a0001c0002t0001g0006a0001c0002t0001g0008a0001c0002t0001g0020others(5): Show | 20 | HG00558.hp2 HG01255.hp2 HG01928.hp2 others(17): Show |
intron_variant | MODIFIER | c.316-185G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567268 | ||||||
chr7:102567334
|
A | C | 5 | a0001c0002t0001g0019a0001c0002t0001g0022a0005c0008t0001g0034others(2): Show | 5 | HG04199.hp1 NA18964.hp1 NA18973.hp2 others(2): Show |
intron_variant | MODIFIER | c.316-251T>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567334 | ||||||
chr7:102567339
|
T | C | 3 | a0001c0002t0001g0020a0001c0007t0001g0023a0005c0008t0001g0036 | 3 | HG00558.hp2 HG03041.hp1 NA19076.hp2 |
intron_variant | MODIFIER | c.316-256A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567339 | ||||||
chr7:102567480
|
C | CA | 5 | a0002c0003t0001g0003a0002c0004t0001g0010a0002c0004t0001g0029others(2): Show | 9 | HG00558.hp1 NA18946.hp1 NA18948.hp1 others(6): Show |
intron_variant | MODIFIER | c.316-398dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567480 | ||||||
chr7:102567512
|
A | G | 1 | a0003c0001t0002g0015 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.316-429T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567512 | ||||||
chr7:102567629
|
G | A | 1 | a0004c0005t0003g0040 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.315+381C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567629 | ||||||
chr7:102567778
|
G | A | 1 | a0001c0002t0001g0025 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.315+232C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567778 | ||||||
chr7:102567952
|
T | C | 4 | a0001c0002t0001g0006a0001c0002t0001g0008a0001c0002t0001g0025others(1): Show | 8 | HG01928.hp2 HG03041.hp2 NA18946.hp2 others(5): Show |
intron_variant | MODIFIER | c.315+58A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567952 | ||||||
chr7:102567961
|
G | A | 3 | a0004c0005t0001g0009a0004c0005t0003g0039a0004c0005t0003g0040 | 4 | HG04115.hp1 NA18988.hp1 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.315+49C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567961 | ||||||
chr7:102568001
|
C | T | 4 | a0003c0001t0002g0002a0003c0001t0002g0015a0003c0001t0002g0016others(1): Show | 8 | NA18939.hp2 NA18965.hp2 NA18983.hp1 others(5): Show |
intron_variant | MODIFIER | c.315+9G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102568001 | ||||||
chr7:102568224
|
T | C | 6 | a0003c0001t0002g0001a0003c0001t0002g0002a0003c0001t0002g0014others(3): Show | 16 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(13): Show |
intron_variant | MODIFIER | c.141-40A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568224 | ||||||
chr7:102568300
|
C | CA | 4 | a0004c0005t0001g0009a0004c0005t0001g0027a0004c0005t0003g0039others(1): Show | 5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.141-117dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568300 | ||||||
chr7:102568376
|
C | T | 4 | a0004c0005t0001g0009a0004c0005t0001g0027a0004c0005t0003g0039others(1): Show | 5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.141-192G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568376 | ||||||
chr7:102568415
|
G | C | 4 | a0001c0002t0001g0007a0001c0002t0001g0028a0001c0006t0001g0033others(1): Show | 6 | HG03579.hp2 HG04115.hp2 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.141-231C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568415 | ||||||
chr7:102568483
|
T | C | 3 | a0001c0002t0001g0006a0001c0002t0001g0008a0001c0002t0001g0025 | 7 | HG01928.hp2 HG03041.hp2 NA18948.hp2 others(4): Show |
intron_variant | MODIFIER | c.141-299A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568483 | ||||||
chr7:102568668
|
A | G | 41 | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0008others(38): Show | 68 | HG00558.hp1 HG00558.hp2 HG01255.hp1 others(65): Show |
intron_variant | MODIFIER | c.141-484T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568668 | ||||||
chr7:102568672
|
C | T | 2 | a0001c0006t0003g0011a0001c0010t0003g0038 | 3 | NA18983.hp2 NA18998.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.141-488G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568672 | ||||||
chr7:102568683
|
C | G | 1 | a0002c0003t0002g0012 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.141-499G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568683 | ||||||
chr7:102568690
|
T | C | 30 | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0008others(27): Show | 50 | HG00558.hp2 HG01255.hp1 HG01255.hp2 others(47): Show |
intron_variant | MODIFIER | c.141-506A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568690 | ||||||
chr7:102568710
|
T | C | 40 | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0008others(37): Show | 67 | HG00558.hp1 HG00558.hp2 HG01255.hp1 others(64): Show |
intron_variant | MODIFIER | c.141-526A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568710 | ||||||
chr7:102568829
|
G | A | 6 | a0001c0002t0001g0007a0001c0006t0001g0033a0001c0006t0003g0011others(3): Show | 11 | HG03579.hp2 HG04115.hp2 NA18941.hp1 others(8): Show |
intron_variant | MODIFIER | c.141-645C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568829 | ||||||
chr7:102569083
|
C | T | 1 | a0001c0007t0002g0005 | 3 | NA18941.hp1 NA18976.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.140+752G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569083 | ||||||
chr7:102569340
|
A | G | 36 | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0008others(33): Show | 62 | HG00558.hp1 HG00558.hp2 HG01255.hp2 others(59): Show |
intron_variant | MODIFIER | c.140+495T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569340 | ||||||
chr7:102569435
|
C | T | 3 | a0001c0006t0002g0018a0001c0007t0001g0023a0001c0007t0002g0005 | 5 | HG03041.hp1 HG03579.hp1 NA18941.hp1 others(2): Show |
intron_variant | MODIFIER | c.140+400G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569435 | ||||||
chr7:102569525
|
C | A | 1 | a0003c0001t0002g0017 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.140+310G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569525 | ||||||
chr7:102569575
|
AAAAC | A | 4 | a0001c0002t0001g0006a0001c0002t0001g0008a0001c0002t0001g0025others(1): Show | 10 | HG01928.hp2 HG03041.hp2 NA18941.hp1 others(7): Show |
intron_variant | MODIFIER | c.140+256_140+259del others(4): Show |
POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569575 | ||||||
chr7:102569591
|
C | A | 4 | a0001c0006t0001g0033a0001c0006t0003g0011a0001c0010t0003g0038others(1): Show | 5 | HG01255.hp1 HG03579.hp2 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.140+244G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569591 | ||||||
chr7:102569671
|
C | T | 1 | a0001c0006t0002g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.140+164G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569671 | ||||||
chr7:102569945
|
C | G | 1 | a0002c0004t0001g0010 | 2 | NA18988.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.51-21G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102569945 | ||||||
chr7:102570131
|
A | G | 2 | a0003c0001t0002g0002a0003c0001t0002g0015 | 6 | NA18939.hp2 NA18965.hp2 NA18983.hp1 others(3): Show |
intron_variant | MODIFIER | c.51-207T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570131 | ||||||
chr7:102570134
|
G | GA | 5 | a0001c0002t0001g0019a0001c0002t0001g0020a0005c0008t0001g0035others(2): Show | 5 | HG00558.hp2 NA18973.hp2 NA19001.hp1 others(2): Show |
intron_variant | MODIFIER | c.51-211dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570134 | ||||||
chr7:102570134
|
GA | G | 8 | a0001c0002t0001g0022a0001c0006t0002g0018a0002c0003t0001g0021others(5): Show | 12 | HG03579.hp1 HG04199.hp1 NA18939.hp1 others(9): Show |
intron_variant | MODIFIER | c.51-211delT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570134 | ||||||
chr7:102570202
|
AG | A | 1 | a0003c0001t0002g0001 | 7 | HG01255.hp2 HG04199.hp2 NA18989.hp2 others(4): Show |
intron_variant | MODIFIER | c.51-279delC | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570202 | ||||||
chr7:102570537
|
G | C | 1 | a0005c0008t0001g0037 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.51-613C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570537 | ||||||
chr7:102570563
|
C | T | 3 | a0002c0004t0001g0010a0002c0004t0001g0030a0002c0004t0001g0032 | 4 | NA18964.hp2 NA18973.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.51-639G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570563 | ||||||
chr7:102570564
|
T | A | 3 | a0002c0004t0001g0010a0002c0004t0001g0030a0002c0004t0001g0032 | 4 | NA18964.hp2 NA18973.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.51-640A>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570564 | ||||||
chr7:102570566
|
C | T | 2 | a0002c0003t0002g0012a0002c0003t0002g0013 | 2 | NA18990.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.51-642G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570566 | ||||||
chr7:102570572
|
C | T | 8 | a0001c0002t0001g0025a0001c0006t0001g0033a0001c0006t0003g0011others(5): Show | 10 | HG01255.hp1 HG03041.hp2 HG03579.hp2 others(7): Show |
intron_variant | MODIFIER | c.51-648G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570572 | ||||||
chr7:102570662
|
T | C | 6 | a0001c0002t0001g0025a0002c0004t0001g0010a0002c0004t0001g0029others(3): Show | 7 | HG03041.hp2 NA18946.hp2 NA18948.hp1 others(4): Show |
intron_variant | MODIFIER | c.51-738A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570662 | ||||||
chr7:102570684
|
G | A | 2 | a0002c0003t0001g0004a0002c0003t0001g0026 | 5 | NA18941.hp2 NA18965.hp1 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.51-760C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570684 | ||||||
chr7:102570752
|
C | T | 1 | a0001c0011t0004g0041 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.51-828G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570752 | ||||||
chr7:102571002
|
G | A | 5 | a0001c0006t0002g0018a0003c0001t0002g0002a0003c0001t0002g0015others(2): Show | 9 | HG03579.hp1 NA18939.hp2 NA18965.hp2 others(6): Show |
intron_variant | MODIFIER | c.51-1078C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571002 | ||||||
chr7:102571073
|
A | G | 1 | a0002c0003t0001g0021 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.51-1149T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571073 | ||||||
chr7:102571493
|
G | C | 11 | a0001c0002t0001g0007a0001c0002t0001g0019a0001c0002t0001g0020others(8): Show | 14 | HG00558.hp2 HG03579.hp2 HG04115.hp1 others(11): Show |
intron_variant | MODIFIER | c.50+979C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571493 | ||||||
chr7:102571633
|
G | C | 1 | a0001c0006t0002g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.50+839C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571633 | ||||||
chr7:102572145
|
T | C | 1 | a0001c0006t0001g0033 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.50+327A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572145 | ||||||
chr7:102572292
|
G | A | 4 | a0001c0006t0003g0011a0001c0010t0003g0038a0004c0005t0003g0039others(1): Show | 5 | NA18983.hp2 NA18998.hp2 NA19003.hp2 others(2): Show |
intron_variant | MODIFIER | c.50+180C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572292 | ||||||
chr7:102572296
|
A | C | 13 | a0001c0002t0001g0008a0001c0002t0001g0019a0001c0006t0001g0033others(10): Show | 16 | HG01255.hp1 HG03579.hp2 NA18946.hp2 others(13): Show |
intron_variant | MODIFIER | c.50+176T>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572296 | ||||||
chr7:102572300
|
A | G | 14 | a0001c0002t0001g0008a0001c0002t0001g0019a0001c0002t0001g0020others(11): Show | 17 | HG00558.hp2 HG01255.hp1 HG03579.hp2 others(14): Show |
intron_variant | MODIFIER | c.50+172T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572300 | ||||||
chr7:102572311
|
G | T | 4 | a0002c0003t0002g0012a0002c0003t0002g0013a0003c0001t0002g0001others(1): Show | 10 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(7): Show |
intron_variant | MODIFIER | c.50+161C>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572311 | ||||||
chr7:102572315
|
G | A | 6 | a0001c0006t0002g0018a0001c0007t0002g0005a0003c0001t0002g0002others(3): Show | 12 | HG03579.hp1 NA18939.hp2 NA18941.hp1 others(9): Show |
intron_variant | MODIFIER | c.50+157C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572315 | ||||||
chr7:102572433
|
G | C | 2 | a0001c0002t0001g0008a0002c0004t0001g0029 | 4 | NA18948.hp1 NA18948.hp2 NA19001.hp2 others(1): Show |
intron_variant | MODIFIER | c.50+39C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572433 | ||||||
chr7:102572445
|
C | A | 6 | a0001c0006t0001g0033a0001c0011t0004g0041a0002c0004t0001g0010others(3): Show | 7 | HG01255.hp1 HG03579.hp2 NA18946.hp2 others(4): Show |
intron_variant | MODIFIER | c.50+27G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572445 |