geneid | 374786 |
---|---|
ensemblid | ENSG00000176927.16 |
hgncid | 24801 |
symbol | EFCAB5 |
name | EF-hand calcium binding domain 5 |
refseq_nuc | NM_198529.4 |
refseq_prot | NP_940931.3 |
ensembl_nuc | ENST00000394835.8 |
ensembl_prot | ENSP00000378312.3 |
mane_status | MANE Select |
chr | chr17 |
start | 29941634 |
end | 30108452 |
strand | + |
ver | v1.2 |
region | chr17:29941634-30108452 |
region5000 | chr17:29936634-30113452 |
regionname0 | EFCAB5_chr17_29941634_30108452 |
regionname5000 | EFCAB5_chr17_29936634_30113452 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 1503 | 121 | 39 | 28 | 30 | 7 | 16 | 23 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002 | 0/0 | 1503 | 78 | 8 | 25 | 27 | 3 | 15 | 20 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003 | 0/0 | 25 | 23 | 18 | 3 | 0 | 2 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0004 | 0/0 | 1502 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0005 | 0/0 | 1503 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0006 | 0/0 | 1503 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0007 | 0/0 | 950 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0008 | 0/0 | 1503 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0009 | 0/0 | 1503 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0010 | 1/0 | 1503 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0011 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0012 | 0/0 | 1503 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0013 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0014 | 0/0 | 1503 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0015 | 0/0 | 1503 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0016 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/1 | 4512 | 118 | 39 | 28 | 29 | 7 | 14 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0002 | 0/0 | 4512 | 70 | 6 | 25 | 23 | 3 | 13 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0003 | 0/0 | 4512 | 18 | 13 | 3 | 0 | 2 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0004 | 0/0 | 4509 | 6 | 6 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0005 | 0/0 | 4512 | 4 | 0 | 0 | 3 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0006 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0007 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0008 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0009 | 0/0 | 4509 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0010 | 0/0 | 4512 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0011 | 0/0 | 4512 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0012 | 0/0 | 4512 | 2 | 0 | 0 | 0 | 0 | 2 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0013 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0014 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0015 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0016 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0017 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0018 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0019 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0020 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0021 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0022 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0023 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0024 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0025 | 1/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
c0026 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 592 | 123 | 40 | 28 | 29 | 8 | 16 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
t0002 | 0/0 | 592 | 123 | 44 | 30 | 27 | 6 | 16 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
t0003 | 0/0 | 592 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
t0004 | 0/0 | 592 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0161 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0220 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0223 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 4512 | 118 | 39 | 28 | 29 | 7 | 14 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0001c0012 | 0/0 | 4512 | 2 | 0 | 0 | 0 | 0 | 2 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0001c0024 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0002 | 0/0 | 4512 | 70 | 6 | 25 | 23 | 3 | 13 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0005 | 0/0 | 4512 | 4 | 0 | 0 | 3 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0016 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0017 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0019 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0020 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0003 | 0/0 | 4512 | 18 | 13 | 3 | 0 | 2 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0006 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0013 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0014 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0004c0004 | 0/0 | 4509 | 6 | 6 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0005c0007 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0006c0008 | 0/0 | 4512 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0007c0009 | 0/0 | 4509 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0008c0011 | 0/0 | 4512 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0009c0010 | 0/0 | 4512 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0010c0025 | 1/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0011c0022 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0012c0023 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0013c0018 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0014c0021 | 0/0 | 4512 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0015c0015 | 0/0 | 4512 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0016c0026 | 0/0 | 4512 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 5103 | 118 | 39 | 28 | 29 | 7 | 14 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0001c0012t0001 | 0/0 | 5103 | 2 | 0 | 0 | 0 | 0 | 2 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0001c0024t0004 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0002t0002 | 0/0 | 5103 | 69 | 6 | 25 | 22 | 3 | 13 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0002t0003 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0005t0002 | 0/0 | 5103 | 4 | 0 | 0 | 3 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0016t0002 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0017t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0019t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0002c0020t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0003t0002 | 0/0 | 5103 | 18 | 13 | 3 | 0 | 2 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0006t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0013t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0003c0014t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0004c0004t0002 | 0/0 | 5100 | 6 | 6 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0005c0007t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0006c0008t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0007c0009t0002 | 0/0 | 5100 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0008c0011t0002 | 0/0 | 5103 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0009c0010t0002 | 0/0 | 5103 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0010c0025t0001 | 1/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0011c0022t0001 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0012c0023t0001 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0013c0018t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0014c0021t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0015c0015t0002 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
a0016c0026t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | copy fasta | chr17 | 29936634 | 30113452 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0223 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0012t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0012t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0001c0024t0004g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0002t0003g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0005t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0005t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0005t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0005t0002g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0016t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0017t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0019t0002g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0002c0020t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0003t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0006t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0006t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0006t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0013t0002g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0003c0014t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0004c0004t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0005c0007t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0005c0007t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0005c0007t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0006c0008t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0006c0008t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0006c0008t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0007c0009t0002g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0007c0009t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0007c0009t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0008c0011t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0008c0011t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0009c0010t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0009c0010t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0010c0025t0001g0161 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0011c0022t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0012c0023t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0013c0018t0002g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0014c0021t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0015c0015t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
a0016c0026t0002g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0229 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00099 | hp2 | a0002 | c0002 | t0002 | g0059 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00140 | hp1 | a0011 | c0022 | t0001 | g0172 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0152 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00280 | hp1 | a0002 | c0002 | t0002 | g0027 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0220 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00323 | hp1 | a0002 | c0002 | t0002 | g0024 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0221 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00408 | hp1 | a0001 | c0024 | t0004 | g0159 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00408 | hp2 | a0002 | c0002 | t0002 | g0038 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00609 | hp1 | a0002 | c0002 | t0002 | g0054 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00621 | hp1 | a0002 | c0002 | t0002 | g0089 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00639 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0218 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00642 | hp2 | a0002 | c0002 | t0002 | g0092 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00733 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0191 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00741 | hp1 | a0003 | c0003 | t0002 | g0144 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG00741 | hp2 | a0002 | c0002 | t0002 | g0029 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01069 | hp1 | a0002 | c0002 | t0002 | g0073 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01070 | hp2 | a0002 | c0002 | t0002 | g0103 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0242 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01081 | hp2 | a0002 | c0002 | t0002 | g0034 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01099 | hp1 | a0009 | c0010 | t0002 | g0093 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01099 | hp2 | a0001 | c0001 | t0001 | g0244 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0127 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01109 | hp2 | a0002 | c0002 | t0002 | g0032 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0240 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01167 | hp2 | a0002 | c0002 | t0002 | g0106 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01168 | hp2 | a0002 | c0002 | t0002 | g0077 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01169 | hp2 | a0002 | c0002 | t0002 | g0076 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01243 | hp2 | a0003 | c0003 | t0002 | g0143 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01255 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01255 | hp2 | a0002 | c0002 | t0002 | g0070 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01256 | hp1 | a0002 | c0002 | t0002 | g0068 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0222 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01261 | hp1 | a0002 | c0002 | t0002 | g0033 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01346 | hp1 | a0002 | c0002 | t0002 | g0030 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01361 | hp2 | a0009 | c0010 | t0002 | g0094 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01433 | hp1 | a0003 | c0003 | t0002 | g0133 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01433 | hp2 | a0002 | c0002 | t0002 | g0072 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0231 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01496 | hp2 | a0002 | c0002 | t0002 | g0031 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01516 | hp1 | a0003 | c0003 | t0002 | g0140 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0200 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0189 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01517 | hp2 | a0003 | c0003 | t0002 | g0141 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01884 | hp1 | a0003 | c0003 | t0002 | g0214 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0183 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01891 | hp1 | a0008 | c0011 | t0002 | g0020 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01934 | hp1 | a0002 | c0002 | t0002 | g0095 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01952 | hp1 | a0002 | c0002 | t0002 | g0065 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0236 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01978 | hp2 | a0002 | c0002 | t0002 | g0090 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01993 | hp1 | a0002 | c0002 | t0002 | g0022 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0237 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0234 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02004 | hp2 | a0002 | c0002 | t0002 | g0050 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02055 | hp1 | a0004 | c0004 | t0002 | g0015 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02056 | hp2 | a0002 | c0002 | t0002 | g0049 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02074 | hp1 | a0002 | c0002 | t0002 | g0046 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02132 | hp1 | a0002 | c0005 | t0002 | g0025 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02148 | hp1 | a0002 | c0002 | t0002 | g0081 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02257 | hp2 | a0002 | c0002 | t0002 | g0080 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02258 | hp1 | a0005 | c0007 | t0002 | g0131 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02273 | hp1 | a0002 | c0002 | t0002 | g0041 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02280 | hp1 | a0002 | c0002 | t0002 | g0071 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02451 | hp1 | a0005 | c0007 | t0002 | g0130 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02451 | hp2 | a0008 | c0011 | t0002 | g0021 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02523 | hp1 | a0002 | c0002 | t0002 | g0043 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02572 | hp1 | a0002 | c0002 | t0002 | g0052 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02572 | hp2 | a0003 | c0003 | t0002 | g0136 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02615 | hp1 | a0003 | c0003 | t0002 | g0134 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02615 | hp2 | a0002 | c0020 | t0002 | g0019 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02630 | hp1 | a0002 | c0002 | t0002 | g0023 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02647 | hp1 | a0002 | c0002 | t0002 | g0037 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0168 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02683 | hp2 | a0002 | c0002 | t0002 | g0086 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0225 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02698 | hp2 | a0002 | c0005 | t0002 | g0064 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02717 | hp2 | a0012 | c0023 | t0001 | g0181 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0150 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02723 | hp2 | a0006 | c0008 | t0002 | g0017 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02735 | hp1 | a0002 | c0002 | t0002 | g0082 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0193 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02738 | hp1 | a0001 | c0012 | t0001 | g0187 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02738 | hp2 | a0002 | c0002 | t0002 | g0075 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02895 | hp1 | a0004 | c0004 | t0002 | g0097 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02895 | hp2 | a0003 | c0006 | t0002 | g0003 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02896 | hp1 | a0004 | c0004 | t0002 | g0104 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02922 | hp1 | a0003 | c0003 | t0002 | g0213 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02922 | hp2 | a0007 | c0009 | t0002 | g0102 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0115 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02965 | hp2 | a0003 | c0003 | t0002 | g0216 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03017 | hp2 | a0016 | c0026 | t0002 | g0083 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0204 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03041 | hp2 | a0003 | c0003 | t0002 | g0145 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03098 | hp1 | a0003 | c0003 | t0002 | g0215 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03098 | hp2 | a0003 | c0003 | t0002 | g0137 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03130 | hp1 | a0004 | c0004 | t0002 | g0098 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03130 | hp2 | a0014 | c0021 | t0002 | g0012 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03139 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0107 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03195 | hp1 | a0007 | c0009 | t0002 | g0100 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0175 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03209 | hp1 | a0003 | c0003 | t0002 | g0138 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03209 | hp2 | a0003 | c0003 | t0002 | g0132 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03225 | hp1 | a0006 | c0008 | t0002 | g0016 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0247 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03239 | hp1 | a0002 | c0019 | t0002 | g0040 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0228 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03453 | hp1 | a0004 | c0004 | t0002 | g0105 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03486 | hp1 | a0003 | c0014 | t0002 | g0006 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03486 | hp2 | a0003 | c0003 | t0002 | g0142 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03490 | hp2 | a0002 | c0002 | t0002 | g0085 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03516 | hp1 | a0005 | c0007 | t0002 | g0129 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0180 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03540 | hp1 | a0003 | c0003 | t0002 | g0135 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03579 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0114 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03669 | hp1 | a0002 | c0002 | t0002 | g0048 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03669 | hp2 | a0001 | c0001 | t0001 | g0184 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03834 | hp1 | a0002 | c0002 | t0002 | g0069 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0171 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03927 | hp2 | a0002 | c0002 | t0002 | g0074 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03942 | hp2 | a0002 | c0002 | t0002 | g0067 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04115 | hp1 | a0002 | c0002 | t0002 | g0066 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0157 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04199 | hp1 | a0001 | c0012 | t0001 | g0196 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04199 | hp2 | a0002 | c0002 | t0002 | g0096 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04204 | hp1 | a0002 | c0002 | t0002 | g0028 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG04228 | hp2 | a0002 | c0002 | t0002 | g0061 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18522 | hp1 | a0002 | c0002 | t0002 | g0036 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0153 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18906 | hp1 | a0003 | c0006 | t0002 | g0004 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18940 | hp1 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18940 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18951 | hp2 | a0002 | c0002 | t0002 | g0044 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18961 | hp1 | a0002 | c0002 | t0002 | g0062 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18963 | hp2 | a0002 | c0005 | t0002 | g0039 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18964 | hp2 | a0002 | c0002 | t0002 | g0013 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18971 | hp2 | a0002 | c0002 | t0002 | g0056 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18986 | hp1 | a0002 | c0002 | t0003 | g0053 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0245 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18993 | hp2 | a0002 | c0002 | t0002 | g0063 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18998 | hp2 | a0002 | c0002 | t0002 | g0042 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19000 | hp1 | a0002 | c0002 | t0002 | g0091 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19001 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19001 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19004 | hp1 | a0002 | c0016 | t0002 | g0014 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19006 | hp1 | a0002 | c0002 | t0002 | g0045 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19006 | hp2 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19007 | hp2 | a0002 | c0002 | t0002 | g0047 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19011 | hp2 | a0002 | c0002 | t0002 | g0079 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19030 | hp1 | a0002 | c0017 | t0002 | g0035 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0128 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19054 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19054 | hp2 | a0002 | c0005 | t0002 | g0060 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19064 | hp1 | a0015 | c0015 | t0002 | g0078 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19066 | hp2 | a0002 | c0002 | t0002 | g0084 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19067 | hp1 | a0002 | c0002 | t0002 | g0087 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19067 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19080 | hp2 | a0002 | c0002 | t0002 | g0057 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19089 | hp1 | a0002 | c0002 | t0002 | g0026 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19089 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19240 | hp1 | a0007 | c0009 | t0002 | g0101 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0202 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20129 | hp1 | a0003 | c0006 | t0002 | g0005 | AFR | ASW | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | ASW | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0226 | EUR | TSI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20752 | hp2 | a0013 | c0018 | t0002 | g0051 | EUR | TSI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20905 | hp1 | a0002 | c0002 | t0002 | g0058 | SAS | GIH | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | GIH | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0230 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG01123 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02486 | hp1 | a0003 | c0003 | t0002 | g0139 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG02559 | hp2 | a0003 | c0013 | t0002 | g0217 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03471 | hp1 | a0006 | c0008 | t0002 | g0018 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
HG03471 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA18955 | hp2 | a0002 | c0002 | t0002 | g0055 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA21309 | hp1 | a0004 | c0004 | t0002 | g0099 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
NA21309 | hp2 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0223 | REF | REF | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
homoSapiens_grch38 | hp1 | a0010 | c0025 | t0001 | g0161 | REF | REF | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:29941799
|
G | A | 1 | a0003 | 23 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
start_lost | HIGH | c.3G>A | p.Met1? | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 166/5103 | 3/4512 | 1/1503 | chr17 | 29941799 | ||
chr17:29969182
|
AAAG | A | 2 | a0004a0007 | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
conservative_inframe_deletion | MODERATE | c.589_591delAAG | p.Lys197del | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 752/5103 | 589/4512 | 197/1503 | INFO_REALIGN_3_PRIME | chr17 | 29969182 | |
chr17:29969278
|
C | G | 1 | a0016 | 1 | HG03017.hp2 | missense_variant | MODERATE | c.678C>G | p.Ile226Met | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 841/5103 | 678/4512 | 226/1503 | chr17 | 29969278 | ||
chr17:29969309
|
T | G | 12 | a0002a0003a0004others(9): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
missense_variant | MODERATE | c.709T>G | p.Leu237Val | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 872/5103 | 709/4512 | 237/1503 | chr17 | 29969309 | ||
chr17:29993230
|
T | A | 15 | a0001a0002a0003others(12): Show | 247 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
missense_variant | MODERATE | c.833T>A | p.Ile278Lys | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/23 | 996/5103 | 833/4512 | 278/1503 | chr17 | 29993230 | ||
chr17:29996321
|
G | A | 1 | a0005 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.934G>A | p.Val312Ile | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/23 | 1097/5103 | 934/4512 | 312/1503 | chr17 | 29996321 | ||
chr17:30034371
|
T | G | 1 | a0015 | 1 | NA19064.hp1 | missense_variant | MODERATE | c.1186T>G | p.Cys396Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/23 | 1349/5103 | 1186/4512 | 396/1503 | chr17 | 30034371 | ||
chr17:30051188
|
T | G | 1 | a0005 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.1271T>G | p.Leu424Arg | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/23 | 1434/5103 | 1271/4512 | 424/1503 | chr17 | 30051188 | ||
chr17:30051203
|
G | A | 1 | a0011 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.1286G>A | p.Arg429Gln | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/23 | 1449/5103 | 1286/4512 | 429/1503 | chr17 | 30051203 | ||
chr17:30053395
|
C | G | 1 | a0003 | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
missense_variant | MODERATE | c.1441C>G | p.Gln481Glu | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1604/5103 | 1441/4512 | 481/1503 | chr17 | 30053395 | ||
chr17:30053450
|
C | T | 1 | a0008 | 2 | HG01891.hp1 HG02451.hp2 |
missense_variant | MODERATE | c.1496C>T | p.Ser499Leu | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1659/5103 | 1496/4512 | 499/1503 | chr17 | 30053450 | ||
chr17:30053548
|
C | A | 1 | a0003 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
missense_variant | MODERATE | c.1594C>A | p.Pro532Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1757/5103 | 1594/4512 | 532/1503 | chr17 | 30053548 | ||
chr17:30053637
|
G | T | 6 | a0003a0004a0005others(3): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
missense_variant | MODERATE | c.1683G>T | p.Arg561Ser | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1846/5103 | 1683/4512 | 561/1503 | chr17 | 30053637 | ||
chr17:30078331
|
C | T | 1 | a0007 | 3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
stop_gained | HIGH | c.2854C>T | p.Gln952* | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/23 | 3017/5103 | 2854/4512 | 952/1503 | chr17 | 30078331 | ||
chr17:30082990
|
A | G | 1 | a0009 | 2 | HG01099.hp1 HG01361.hp2 |
missense_variant | MODERATE | c.3526A>G | p.Thr1176Ala | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/23 | 3689/5103 | 3526/4512 | 1176/1503 | chr17 | 30082990 | ||
chr17:30090492
|
T | C | 1 | a0003 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
missense_variant | MODERATE | c.3755T>C | p.Val1252Ala | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3918/5103 | 3755/4512 | 1252/1503 | chr17 | 30090492 | ||
chr17:30090504
|
G | A | 1 | a0013 | 1 | NA20752.hp2 | missense_variant | MODERATE | c.3767G>A | p.Arg1256His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3930/5103 | 3767/4512 | 1256/1503 | chr17 | 30090504 | ||
chr17:30090548
|
G | A | 1 | a0003 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.3811G>A | p.Gly1271Ser | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3974/5103 | 3811/4512 | 1271/1503 | chr17 | 30090548 | ||
chr17:30090558
|
G | C | 4 | a0005a0006a0012others(1): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
missense_variant | MODERATE | c.3821G>C | p.Arg1274Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3984/5103 | 3821/4512 | 1274/1503 | chr17 | 30090558 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:30054123
|
C | G | 16 | a0001c0001a0001c0012a0001c0024others(13): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
synonymous_variant | LOW | c.2169C>G | p.Thr723Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 2332/5103 | 2169/4512 | 723/1503 | chr17 | 30054123 | ||
chr17:30078255
|
C | T | 1 | a0002c0005 | 4 | HG02132.hp1 HG02698.hp2 NA18963.hp2 others(1): Show |
synonymous_variant | LOW | c.2778C>T | p.His926His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/23 | 2941/5103 | 2778/4512 | 926/1503 | chr17 | 30078255 | ||
chr17:30080152
|
G | C | 1 | a0002c0016 | 1 | NA19004.hp1 | synonymous_variant | LOW | c.3108G>C | p.Gly1036Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/23 | 3271/5103 | 3108/4512 | 1036/1503 | chr17 | 30080152 | ||
chr17:30080843
|
G | A | 1 | a0006c0008 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
synonymous_variant | LOW | c.3288G>A | p.Lys1096Lys | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3451/5103 | 3288/4512 | 1096/1503 | chr17 | 30080843 | ||
chr17:30080858
|
T | G | 16 | a0001c0001a0001c0024a0002c0017others(13): Show | 164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
synonymous_variant | LOW | c.3303T>G | p.Gly1101Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3466/5103 | 3303/4512 | 1101/1503 | chr17 | 30080858 | ||
chr17:30080939
|
C | T | 2 | a0002c0019a0003c0013 | 2 | HG02559.hp2 HG03239.hp1 |
synonymous_variant | LOW | c.3384C>T | p.His1128His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3547/5103 | 3384/4512 | 1128/1503 | chr17 | 30080939 | ||
chr17:30087143
|
C | T | 1 | a0001c0024 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.3660C>T | p.Ile1220Ile | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/23 | 3823/5103 | 3660/4512 | 1220/1503 | chr17 | 30087143 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:29941713
|
T | C | 1 | a0002c0002t0003 | 1 | NA18986.hp1 | 5_prime_UTR_variant | MODIFIER | c.-84T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 84 | chr17 | 29941713 | |||||
chr17:29941782
|
A | C | 21 | a0002c0002t0002a0002c0002t0003a0002c0005t0002others(18): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
5_prime_UTR_variant | MODIFIER | c.-15A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 15 | chr17 | 29941782 | |||||
chr17:30108109
|
T | C | 1 | a0001c0024t0004 | 1 | HG00408.hp1 | 3_prime_UTR_variant | MODIFIER | c.*85T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 23/23 | 85 | chr17 | 30108109 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:29941839
|
G | A | 1 | a0002c0002t0002g0002 | 1 | HG01123.hp2 | splice_donor_variant&intron_variant | HIGH | c.42+1G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29941839 | ||||||
chr17:29941906
|
G | A | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.42+68G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29941906 | ||||||
chr17:29942028
|
T | G | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.42+190T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29942028 | ||||||
chr17:29942425
|
G | A | 5 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 5 | HG00621.hp2 HG02056.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.105+123G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29942425 | ||||||
chr17:29942836
|
A | G | 1 | a0002c0002t0002g0002 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.105+534A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29942836 | ||||||
chr17:29943041
|
A | AAT | 30 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(27): Show | 30 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(27): Show |
intron_variant | MODIFIER | c.106-502_106-501dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | |||||
chr17:29943041
|
AAT | A | 44 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(41): Show | 44 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.106-502_106-501del others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | |||||
chr17:29943041
|
AATAT | A | 97 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(94): Show | 98 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.106-504_106-501del others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | |||||
chr17:29943293
|
A | C | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.106-272A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943293 | ||||||
chr17:29943332
|
C | T | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.106-233C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943332 | ||||||
chr17:29943341
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.106-224G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943341 | ||||||
chr17:29943840
|
T | C | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.190+191T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943840 | ||||||
chr17:29943946
|
C | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.190+297C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943946 | ||||||
chr17:29943980
|
T | A | 2 | a0002c0002t0002g0013a0002c0016t0002g0014 | 2 | NA18964.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.190+331T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943980 | ||||||
chr17:29944154
|
C | T | 1 | a0002c0002t0002g0106 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.190+505C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944154 | ||||||
chr17:29944189
|
T | C | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+540T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944189 | ||||||
chr17:29944337
|
T | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.190+688T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944337 | ||||||
chr17:29944617
|
G | GT | 7 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(4): Show | 7 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.190+972dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944617 | |||||
chr17:29944622
|
G | GT | 12 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(9): Show | 12 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.190+977dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944622 | |||||
chr17:29944622
|
G | T | 9 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(6): Show | 9 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+973G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944622 | ||||||
chr17:29944627
|
G | GT | 7 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(4): Show | 7 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.190+991dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944627 | |||||
chr17:29944627
|
G | T | 122 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(119): Show | 123 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.190+978G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944627 | ||||||
chr17:29944998
|
C | T | 1 | a0002c0002t0002g0103 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.190+1349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944998 | ||||||
chr17:29945054
|
A | C | 3 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146 | 3 | HG01243.hp1 HG02559.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.190+1405A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945054 | ||||||
chr17:29945085
|
C | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+1436C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945085 | ||||||
chr17:29945119
|
T | C | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+1470T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945119 | ||||||
chr17:29945367
|
A | G | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.190+1718A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945367 | ||||||
chr17:29946034
|
A | G | 85 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(82): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+2385A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946034 | ||||||
chr17:29946300
|
A | C | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+2651A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946300 | ||||||
chr17:29946429
|
C | CT | 32 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0113others(29): Show | 32 | HG00621.hp2 HG00639.hp2 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.190+2805dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | |||||
chr17:29946429
|
CTT | C | 26 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(23): Show | 26 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(23): Show |
intron_variant | MODIFIER | c.190+2804_190+2805d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | |||||
chr17:29946429
|
CTTT | C | 23 | a0002c0002t0002g0086a0002c0002t0002g0087a0002c0002t0002g0088others(20): Show | 23 | HG00621.hp1 HG00642.hp2 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.190+2803_190+2805d others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | |||||
chr17:29946429
|
CTTTT | C | 72 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(69): Show | 73 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.190+2802_190+2805d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | |||||
chr17:29946467
|
C | T | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.190+2818C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946467 | ||||||
chr17:29946538
|
G | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+2889G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946538 | ||||||
chr17:29946568
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.190+2919T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946568 | ||||||
chr17:29946700
|
A | C | 4 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(1): Show | 4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+3051A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946700 | ||||||
chr17:29946733
|
C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+3084C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946733 | ||||||
chr17:29946811
|
C | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.190+3162C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946811 | ||||||
chr17:29946934
|
C | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.190+3285C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946934 | ||||||
chr17:29946939
|
C | T | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+3290C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946939 | ||||||
chr17:29946991
|
T | C | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.190+3342T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946991 | ||||||
chr17:29947436
|
C | T | 1 | a0009c0010t0002g0094 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.190+3787C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947436 | ||||||
chr17:29947533
|
T | C | 1 | a0001c0001t0001g0149 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.190+3884T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947533 | ||||||
chr17:29947551
|
G | T | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+3902G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947551 | ||||||
chr17:29947570
|
A | T | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+3921A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947570 | ||||||
chr17:29947633
|
G | C | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.190+3984G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947633 | ||||||
chr17:29947918
|
C | T | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.190+4269C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947918 | ||||||
chr17:29947955
|
AG | A | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+4307delG | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947955 | ||||||
chr17:29948077
|
C | T | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.190+4428C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948077 | ||||||
chr17:29948345
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.190+4696G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948345 | ||||||
chr17:29948455
|
C | T | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.190+4806C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948455 | ||||||
chr17:29948687
|
G | A | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.190+5038G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948687 | ||||||
chr17:29948874
|
T | A | 1 | a0001c0001t0001g0151 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.190+5225T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948874 | ||||||
chr17:29948982
|
A | T | 2 | a0001c0001t0001g0240a0001c0001t0001g0241 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.190+5333A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948982 | ||||||
chr17:29949875
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.190+6226G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29949875 | ||||||
chr17:29950023
|
T | C | 85 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(82): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+6374T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950023 | ||||||
chr17:29950178
|
A | G | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+6529A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950178 | ||||||
chr17:29950276
|
TTTCCTTC others(1): Show |
T | 3 | a0002c0002t0002g0022a0002c0002t0002g0023a0002c0002t0002g0024 | 3 | HG00323.hp1 HG01993.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.190+6641_190+6648d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29950276 | |||||
chr17:29950421
|
G | T | 2 | a0002c0002t0002g0082a0016c0026t0002g0083 | 2 | HG02735.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.190+6772G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950421 | ||||||
chr17:29950638
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.190+6989C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950638 | ||||||
chr17:29950933
|
G | C | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.190+7284G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950933 | ||||||
chr17:29951101
|
AC | A | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+7455delC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951101 | |||||
chr17:29951467
|
A | G | 1 | a0001c0001t0001g0247 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.190+7818A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951467 | ||||||
chr17:29951511
|
G | T | 1 | a0001c0001t0001g0239 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.190+7862G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951511 | ||||||
chr17:29951511
|
GTATTTTT others(5): Show |
G | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.190+7877_190+7888d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951511 | |||||
chr17:29951513
|
A | AT | 109 | a0001c0001t0001g0128a0001c0001t0001g0246a0002c0002t0002g0001others(106): Show | 110 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.190+7875dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951513 | |||||
chr17:29951519
|
T | A | 1 | a0001c0001t0001g0147 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.190+7870T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951519 | ||||||
chr17:29951523
|
T | G | 1 | a0001c0001t0001g0203 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.190+7874T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951523 | ||||||
chr17:29951523
|
T | TG | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+7874_190+7875i others(3): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951523 | ||||||
chr17:29951531
|
T | A | 86 | a0001c0001t0001g0152a0002c0002t0002g0001a0002c0002t0002g0002others(83): Show | 87 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(84): Show |
intron_variant | MODIFIER | c.190+7882T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951531 | ||||||
chr17:29951532
|
T | C | 1 | a0002c0005t0002g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.190+7883T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951532 | ||||||
chr17:29951644
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.190+7995C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951644 | ||||||
chr17:29952030
|
G | A | 5 | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0001g0155others(2): Show | 5 | HG02622.hp2 HG02717.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.190+8381G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952030 | ||||||
chr17:29952128
|
A | AAAATGTT others(7): Show |
1 | a0001c0001t0001g0156 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.190+8480_190+8481i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29952128 | |||||
chr17:29952132
|
T | A | 1 | a0001c0001t0001g0156 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.190+8483T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952132 | ||||||
chr17:29952303
|
T | G | 2 | a0006c0008t0002g0016a0006c0008t0002g0017 | 2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.190+8654T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952303 | ||||||
chr17:29952469
|
C | T | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.190+8820C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952469 | ||||||
chr17:29952573
|
A | C | 85 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(82): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+8924A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952573 | ||||||
chr17:29952684
|
A | G | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+9035A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952684 | ||||||
chr17:29952705
|
T | G | 10 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+9056T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952705 | ||||||
chr17:29952762
|
A | G | 2 | a0003c0003t0002g0215a0003c0003t0002g0216 | 2 | HG02965.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.190+9113A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952762 | ||||||
chr17:29952778
|
G | A | 12 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(9): Show | 12 | HG01891.hp1 HG02055.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.190+9129G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952778 | ||||||
chr17:29952917
|
T | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.190+9268T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952917 | ||||||
chr17:29952995
|
C | A | 1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.190+9346C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952995 | ||||||
chr17:29953372
|
T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+9723T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953372 | ||||||
chr17:29953783
|
G | A | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.190+10134G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953783 | ||||||
chr17:29953845
|
C | T | 2 | a0001c0001t0001g0009a0001c0001t0001g0011 | 2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.190+10196C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953845 | ||||||
chr17:29953890
|
G | A | 4 | a0004c0004t0002g0097a0004c0004t0002g0098a0004c0004t0002g0104others(1): Show | 4 | HG02895.hp1 HG02896.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+10241G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953890 | ||||||
chr17:29954041
|
G | A | 1 | a0001c0001t0001g0114 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.190+10392G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954041 | ||||||
chr17:29954043
|
A | G | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.190+10394A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954043 | ||||||
chr17:29954240
|
A | G | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.190+10591A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954240 | ||||||
chr17:29954368
|
C | T | 12 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(9): Show | 12 | HG01891.hp1 HG02055.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.190+10719C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954368 | ||||||
chr17:29954419
|
A | G | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+10770A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954419 | ||||||
chr17:29954626
|
G | A | 3 | a0002c0002t0002g0001a0002c0002t0002g0027a0002c0002t0002g0028 | 4 | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+10977G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954626 | ||||||
chr17:29954746
|
G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+11097G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954746 | ||||||
chr17:29954774
|
C | A | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.190+11125C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954774 | ||||||
chr17:29954781
|
C | T | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.190+11132C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954781 | ||||||
chr17:29954950
|
G | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+11301G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954950 | ||||||
chr17:29955076
|
T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.190+11427T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955076 | ||||||
chr17:29955134
|
G | T | 6 | a0002c0002t0002g0002a0002c0002t0002g0080a0002c0002t0002g0081others(3): Show | 6 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.190+11485G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955134 | ||||||
chr17:29955249
|
G | A | 2 | a0001c0001t0001g0121a0001c0001t0001g0122 | 2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.190+11600G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955249 | ||||||
chr17:29955607
|
C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+11958C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955607 | ||||||
chr17:29955748
|
T | G | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+12099T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955748 | ||||||
chr17:29955801
|
TA | T | 243 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(240): Show | 244 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
intron_variant | MODIFIER | c.190+12164delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29955801 | |||||
chr17:29955892
|
T | A | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+12243T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955892 | ||||||
chr17:29955926
|
C | G | 3 | a0001c0001t0001g0151a0001c0001t0001g0198a0001c0001t0001g0199 | 3 | HG01081.hp1 HG04228.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.190+12277C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955926 | ||||||
chr17:29956019
|
A | T | 1 | a0001c0001t0001g0197 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.190+12370A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956019 | ||||||
chr17:29956205
|
G | A | 2 | a0003c0003t0002g0140a0003c0003t0002g0141 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.190+12556G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956205 | ||||||
chr17:29956228
|
G | A | 2 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.191-12563G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956228 | ||||||
chr17:29956250
|
A | C | 1 | a0001c0012t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.191-12541A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956250 | ||||||
chr17:29956284
|
T | C | 22 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(19): Show | 22 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.191-12507T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956284 | ||||||
chr17:29956376
|
T | C | 246 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(243): Show | 247 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
intron_variant | MODIFIER | c.191-12415T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956376 | ||||||
chr17:29956420
|
G | A | 3 | a0001c0001t0001g0150a0001c0001t0001g0160a0001c0001t0001g0207 | 3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.191-12371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956420 | ||||||
chr17:29956578
|
T | C | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.191-12213T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956578 | ||||||
chr17:29956648
|
A | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-12143A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956648 | ||||||
chr17:29956801
|
C | T | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.191-11990C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956801 | ||||||
chr17:29956860
|
G | A | 3 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 3 | HG01952.hp2 HG02273.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.191-11931G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956860 | ||||||
chr17:29956914
|
C | A | 2 | a0001c0001t0001g0121a0001c0001t0001g0122 | 2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.191-11877C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956914 | ||||||
chr17:29956938
|
T | G | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-11853T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956938 | ||||||
chr17:29957039
|
G | A | 2 | a0004c0004t0002g0015a0004c0004t0002g0099 | 2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.191-11752G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957039 | ||||||
chr17:29957123
|
C | A | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-11668C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957123 | ||||||
chr17:29957144
|
G | C | 1 | a0001c0001t0001g0219 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.191-11647G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957144 | ||||||
chr17:29957200
|
G | A | 6 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(3): Show | 6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.191-11591G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957200 | ||||||
chr17:29957364
|
A | G | 1 | a0001c0001t0001g0232 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.191-11427A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957364 | ||||||
chr17:29957665
|
C | T | 23 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(20): Show | 23 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
intron_variant | MODIFIER | c.191-11126C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957665 | ||||||
chr17:29958565
|
T | C | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-10226T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958565 | ||||||
chr17:29958574
|
C | T | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.191-10217C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958574 | ||||||
chr17:29958955
|
T | G | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.191-9836T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958955 | ||||||
chr17:29959167
|
T | C | 14 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0114others(11): Show | 14 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.191-9624T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959167 | ||||||
chr17:29959478
|
C | T | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.191-9313C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959478 | ||||||
chr17:29959738
|
C | T | 1 | a0001c0001t0001g0231 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.191-9053C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959738 | ||||||
chr17:29960030
|
C | T | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.191-8761C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960030 | ||||||
chr17:29960214
|
G | A | 1 | a0001c0001t0001g0166 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.191-8577G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960214 | ||||||
chr17:29960659
|
G | C | 8 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG00621.hp2 HG02056.hp1 HG03942.hp1 others(5): Show |
intron_variant | MODIFIER | c.191-8132G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960659 | ||||||
chr17:29960742
|
G | A | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.191-8049G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960742 | ||||||
chr17:29960843
|
A | G | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.191-7948A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960843 | ||||||
chr17:29961053
|
C | T | 2 | a0002c0002t0002g0079a0015c0015t0002g0078 | 2 | NA19011.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.191-7738C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29961053 | ||||||
chr17:29962045
|
A | G | 1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.191-6746A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962045 | ||||||
chr17:29962238
|
T | C | 2 | a0003c0003t0002g0135a0003c0003t0002g0136 | 2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.191-6553T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962238 | ||||||
chr17:29962295
|
A | G | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.191-6496A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962295 | ||||||
chr17:29962615
|
C | T | 27 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(24): Show | 27 | HG00140.hp2 HG00733.hp2 HG01168.hp1 others(24): Show |
intron_variant | MODIFIER | c.191-6176C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962615 | ||||||
chr17:29962625
|
T | C | 1 | a0001c0001t0001g0184 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.191-6166T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962625 | ||||||
chr17:29962632
|
C | CT | 116 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(113): Show | 117 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.191-6140dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29962632 | |||||
chr17:29962664
|
G | A | 3 | a0002c0002t0002g0001a0002c0002t0002g0027a0002c0002t0002g0028 | 4 | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-6127G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962664 | ||||||
chr17:29962685
|
T | C | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.191-6106T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962685 | ||||||
chr17:29962800
|
C | T | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-5991C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962800 | ||||||
chr17:29963037
|
G | T | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.191-5754G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963037 | ||||||
chr17:29963320
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-5471C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963320 | ||||||
chr17:29963340
|
A | G | 150 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(147): Show | 151 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.191-5451A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963340 | ||||||
chr17:29964204
|
T | A | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.191-4587T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964204 | ||||||
chr17:29964248
|
A | G | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.191-4543A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964248 | ||||||
chr17:29964316
|
C | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.191-4475C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964316 | ||||||
chr17:29964487
|
T | G | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-4304T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964487 | ||||||
chr17:29964583
|
G | A | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-4208G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964583 | ||||||
chr17:29964603
|
T | C | 3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.191-4188T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964603 | ||||||
chr17:29964789
|
CTCTT | C | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.191-4000_191-3997d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29964789 | |||||
chr17:29964892
|
CTTAT | C | 2 | a0001c0001t0001g0110a0001c0001t0001g0119 | 2 | HG02622.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.191-3896_191-3893d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29964892 | |||||
chr17:29965062
|
C | T | 2 | a0002c0002t0002g0076a0002c0002t0002g0077 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.191-3729C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965062 | ||||||
chr17:29965094
|
G | A | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.191-3697G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965094 | ||||||
chr17:29965153
|
T | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-3638T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965153 | ||||||
chr17:29965574
|
G | A | 2 | a0001c0001t0001g0009a0001c0001t0001g0011 | 2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.191-3217G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965574 | ||||||
chr17:29965875
|
T | C | 1 | a0001c0001t0001g0232 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.191-2916T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965875 | ||||||
chr17:29966090
|
A | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.191-2701A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966090 | ||||||
chr17:29966332
|
AT | A | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-2457delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29966332 | |||||
chr17:29966494
|
G | A | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.191-2297G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966494 | ||||||
chr17:29966568
|
C | T | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-2223C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966568 | ||||||
chr17:29966640
|
T | C | 2 | a0001c0001t0001g0185a0001c0001t0001g0186 | 2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.191-2151T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966640 | ||||||
chr17:29966841
|
G | GT | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.191-1940dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29966841 | |||||
chr17:29966860
|
C | T | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-1931C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966860 | ||||||
chr17:29966930
|
C | G | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-1861C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966930 | ||||||
chr17:29967262
|
G | A | 9 | a0002c0002t0002g0022a0002c0002t0002g0023a0002c0002t0002g0024others(6): Show | 9 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.191-1529G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967262 | ||||||
chr17:29967403
|
C | A | 1 | a0004c0004t0002g0099 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.191-1388C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967403 | ||||||
chr17:29967473
|
C | T | 2 | a0009c0010t0002g0093a0009c0010t0002g0094 | 2 | HG01099.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.191-1318C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967473 | ||||||
chr17:29967503
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.191-1288C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967503 | ||||||
chr17:29967523
|
T | C | 1 | a0001c0001t0001g0234 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.191-1268T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967523 | ||||||
chr17:29967541
|
G | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.191-1250G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967541 | ||||||
chr17:29967849
|
G | T | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.191-942G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967849 | ||||||
chr17:29967868
|
C | T | 1 | a0007c0009t0002g0102 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.191-923C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967868 | ||||||
chr17:29967888
|
C | CT | 12 | a0001c0001t0001g0199a0002c0002t0002g0074a0002c0002t0002g0075others(9): Show | 12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.191-885dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29967888 | |||||
chr17:29967888
|
CT | C | 9 | a0001c0001t0001g0115a0001c0001t0001g0204a0001c0001t0001g0231others(6): Show | 9 | HG01433.hp1 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.191-885delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29967888 | |||||
chr17:29967959
|
C | T | 1 | a0002c0002t0002g0073 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.191-832C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967959 | ||||||
chr17:29968246
|
T | C | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.191-545T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968246 | ||||||
chr17:29968333
|
C | T | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.191-458C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968333 | ||||||
chr17:29968338
|
C | T | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.191-453C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968338 | ||||||
chr17:29968617
|
A | G | 6 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(3): Show | 6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.191-174A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968617 | ||||||
chr17:29968703
|
T | C | 1 | a0001c0012t0001g0187 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.191-88T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968703 | ||||||
chr17:29969422
|
G | T | 3 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.767+55G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969422 | ||||||
chr17:29969517
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+150C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969517 | ||||||
chr17:29969554
|
G | T | 1 | a0002c0002t0002g0028 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.767+187G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969554 | ||||||
chr17:29970034
|
T | C | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+667T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970034 | ||||||
chr17:29970220
|
C | A | 2 | a0001c0001t0001g0009a0001c0001t0001g0011 | 2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.767+853C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970220 | ||||||
chr17:29970624
|
A | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+1257A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970624 | ||||||
chr17:29970637
|
G | GAC | 5 | a0001c0001t0001g0010a0001c0001t0001g0150a0001c0001t0001g0160others(2): Show | 5 | HG02723.hp1 HG03139.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.767+1300_767+1301d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACAC | 99 | a0001c0001t0001g0007a0001c0001t0001g0110a0001c0001t0001g0112others(96): Show | 99 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
intron_variant | MODIFIER | c.767+1298_767+1301d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACACAC | 11 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0157others(8): Show | 11 | HG00280.hp1 HG01255.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.767+1296_767+1301d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACACACA others(1): Show |
61 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(58): Show | 62 | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.767+1294_767+1301d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACACACA others(3): Show |
6 | a0002c0002t0002g0029a0002c0002t0002g0030a0002c0002t0002g0079others(3): Show | 6 | HG00741.hp2 HG01346.hp1 HG02683.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+1292_767+1301d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACACACA others(5): Show |
3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.767+1290_767+1301d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970637
|
G | GACACACA others(15): Show |
1 | a0001c0001t0001g0220 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.767+1280_767+1301d others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | |||||
chr17:29970649
|
CACACACA others(13): Show |
C | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+1302_767+1321d others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970649 | |||||
chr17:29970651
|
CACACACA others(11): Show |
C | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.767+1302_767+1319d others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970651 | |||||
chr17:29970659
|
CACACACA others(3): Show |
C | 1 | a0007c0009t0002g0102 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.767+1302_767+1311d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970659 | |||||
chr17:29970661
|
C | CACACACA others(15): Show |
1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+1301_767+1302i others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970661 | |||||
chr17:29970661
|
C | CACACACA others(9): Show |
1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970661 | |||||
chr17:29970663
|
C | CACACACA others(13): Show |
6 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(3): Show | 6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.767+1301_767+1302i others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970663
|
C | CACACACA others(11): Show |
2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970663
|
C | CACACACA others(9): Show |
1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970663
|
C | CACACACA others(7): Show |
4 | a0003c0003t0002g0132a0003c0003t0002g0137a0003c0003t0002g0138others(1): Show | 4 | HG02486.hp1 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1301_767+1302i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970663
|
C | CACACACA others(3): Show |
1 | a0003c0003t0002g0133 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.767+1301_767+1302i others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970663
|
CACACAT | C | 4 | a0004c0004t0002g0099a0004c0004t0002g0105a0007c0009t0002g0100others(1): Show | 4 | HG03195.hp1 HG03453.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1302_767+1307d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | |||||
chr17:29970665
|
C | CACACACA others(23): Show |
2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(32): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970665 | |||||
chr17:29970667
|
C | CACACACA others(9): Show |
2 | a0006c0008t0002g0016a0006c0008t0002g0017 | 2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | |||||
chr17:29970667
|
C | CACACACA others(7): Show |
2 | a0002c0020t0002g0019a0006c0008t0002g0018 | 2 | HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | |||||
chr17:29970667
|
C | CACACACA others(3): Show |
3 | a0001c0001t0001g0108a0001c0001t0001g0113a0002c0002t0002g0091 | 3 | NA18906.hp2 NA19000.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | |||||
chr17:29970667
|
CAT | C | 3 | a0004c0004t0002g0097a0004c0004t0002g0098a0004c0004t0002g0104 | 3 | HG02895.hp1 HG02896.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.767+1302_767+1303d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | |||||
chr17:29970669
|
T | C | 42 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113others(39): Show | 42 | HG00408.hp1 HG00408.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.767+1302T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970669 | ||||||
chr17:29970670
|
A | G | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1303A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970670 | ||||||
chr17:29970671
|
C | CACACAT | 3 | a0002c0002t0002g0068a0002c0002t0002g0069a0002c0002t0002g0084 | 3 | HG01256.hp1 HG03834.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.767+1309_767+1310i others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970671 | |||||
chr17:29970671
|
C | T | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.767+1304C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970671 | ||||||
chr17:29970673
|
C | T | 8 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(5): Show | 8 | HG00408.hp1 HG01243.hp1 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.767+1306C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970673 | ||||||
chr17:29970692
|
A | C | 1 | a0004c0004t0002g0098 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.767+1325A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970692 | ||||||
chr17:29970935
|
C | T | 1 | a0002c0002t0002g0027 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.767+1568C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970935 | ||||||
chr17:29971006
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+1639C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29971006 | ||||||
chr17:29971073
|
C | CA | 115 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(112): Show | 116 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.767+1719dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29971073 | |||||
chr17:29971131
|
A | G | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.767+1764A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29971131 | ||||||
chr17:29972004
|
G | A | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+2637G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972004 | ||||||
chr17:29972057
|
A | T | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.767+2690A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972057 | ||||||
chr17:29972078
|
C | T | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.767+2711C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972078 | ||||||
chr17:29972204
|
A | AT | 144 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(141): Show | 145 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.767+2855dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29972204 | |||||
chr17:29972204
|
A | ATT | 32 | a0001c0001t0001g0114a0001c0001t0001g0166a0001c0001t0001g0197others(29): Show | 32 | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.767+2854_767+2855d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29972204 | |||||
chr17:29972292
|
G | A | 1 | a0001c0001t0001g0247 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.767+2925G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972292 | ||||||
chr17:29972312
|
G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+2945G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972312 | ||||||
chr17:29972331
|
G | T | 1 | a0001c0001t0001g0151 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.767+2964G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972331 | ||||||
chr17:29972623
|
C | T | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.767+3256C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972623 | ||||||
chr17:29972647
|
G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+3280G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972647 | ||||||
chr17:29972712
|
A | T | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+3345A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972712 | ||||||
chr17:29972785
|
C | T | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.767+3418C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972785 | ||||||
chr17:29972905
|
G | A | 1 | a0002c0002t0002g0036 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.767+3538G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972905 | ||||||
chr17:29973101
|
G | T | 1 | a0002c0002t0002g0001 | 2 | HG00639.hp1 HG00733.hp1 |
intron_variant | MODIFIER | c.767+3734G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973101 | ||||||
chr17:29973126
|
T | C | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.767+3759T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973126 | ||||||
chr17:29973325
|
G | C | 1 | a0002c0005t0002g0039 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.767+3958G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973325 | ||||||
chr17:29973388
|
T | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+4021T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973388 | ||||||
chr17:29973461
|
C | T | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.767+4094C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973461 | ||||||
chr17:29973480
|
C | CT | 10 | a0001c0001t0001g0123a0001c0001t0001g0128a0001c0001t0001g0194others(7): Show | 10 | HG00099.hp1 HG01123.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.767+4130dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29973480 | |||||
chr17:29973480
|
CT | C | 7 | a0001c0001t0001g0211a0001c0001t0001g0247a0002c0019t0002g0040others(4): Show | 7 | HG01433.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.767+4130delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29973480 | |||||
chr17:29973765
|
C | A | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.767+4398C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973765 | ||||||
chr17:29973929
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+4562G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973929 | ||||||
chr17:29974037
|
A | T | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.767+4670A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29974037 | ||||||
chr17:29974156
|
T | TA | 28 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.767+4804dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29974156 | |||||
chr17:29975027
|
A | AAAAT | 12 | a0001c0001t0001g0156a0001c0001t0001g0193a0003c0003t0002g0135others(9): Show | 12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.767+5684_767+5687d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29975027 | |||||
chr17:29975260
|
T | A | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.767+5893T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975260 | ||||||
chr17:29975282
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+5915G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975282 | ||||||
chr17:29975380
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.767+6013C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975380 | ||||||
chr17:29975403
|
G | T | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+6036G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975403 | ||||||
chr17:29975783
|
C | T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+6416C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975783 | ||||||
chr17:29976052
|
G | A | 5 | a0001c0001t0001g0152a0002c0002t0002g0041a0002c0002t0002g0070others(2): Show | 5 | HG00140.hp2 HG01255.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.767+6685G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976052 | ||||||
chr17:29976433
|
C | G | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.767+7066C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976433 | ||||||
chr17:29976524
|
T | G | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.767+7157T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976524 | ||||||
chr17:29976585
|
G | A | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+7218G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976585 | ||||||
chr17:29976639
|
T | C | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.767+7272T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976639 | ||||||
chr17:29977237
|
T | C | 3 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231 | 3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.767+7870T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977237 | ||||||
chr17:29977306
|
A | G | 1 | a0002c0002t0002g0103 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.767+7939A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977306 | ||||||
chr17:29977316
|
G | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+7949G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977316 | ||||||
chr17:29977467
|
A | G | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.767+8100A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977467 | ||||||
chr17:29977981
|
T | A | 1 | a0003c0003t0002g0132 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.767+8614T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977981 | ||||||
chr17:29977999
|
A | G | 213 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(210): Show | 214 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(211): Show |
intron_variant | MODIFIER | c.767+8632A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977999 | ||||||
chr17:29978350
|
G | A | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.767+8983G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978350 | ||||||
chr17:29978598
|
A | G | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.767+9231A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978598 | ||||||
chr17:29978656
|
C | T | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.767+9289C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978656 | ||||||
chr17:29978711
|
A | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+9344A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978711 | ||||||
chr17:29978833
|
G | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+9466G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978833 | ||||||
chr17:29979183
|
C | T | 1 | a0002c0002t0002g0095 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.767+9816C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979183 | ||||||
chr17:29979275
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.767+9908G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979275 | ||||||
chr17:29979516
|
C | G | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+10149C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979516 | ||||||
chr17:29979615
|
T | C | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.767+10248T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979615 | ||||||
chr17:29979856
|
T | C | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+10489T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979856 | ||||||
chr17:29979896
|
C | T | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+10529C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979896 | ||||||
chr17:29980082
|
T | G | 1 | a0002c0017t0002g0035 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.767+10715T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980082 | ||||||
chr17:29980170
|
A | C | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+10803A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980170 | ||||||
chr17:29980415
|
T | A | 1 | a0006c0008t0002g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.767+11048T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980415 | ||||||
chr17:29980941
|
T | A | 1 | a0001c0001t0001g0167 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.767+11574T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980941 | ||||||
chr17:29981370
|
C | T | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.768-11795C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981370 | ||||||
chr17:29981426
|
C | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.768-11739C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981426 | ||||||
chr17:29981722
|
G | T | 199 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(196): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(197): Show |
intron_variant | MODIFIER | c.768-11443G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981722 | ||||||
chr17:29982209
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.768-10956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982209 | ||||||
chr17:29982390
|
C | CA | 7 | a0001c0024t0004g0159a0003c0003t0002g0140a0003c0003t0002g0141others(4): Show | 7 | HG00408.hp1 HG00741.hp1 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.768-10765dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29982390 | |||||
chr17:29982440
|
CA | C | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-10724delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982440 | ||||||
chr17:29982447
|
G | A | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-10718G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982447 | ||||||
chr17:29982738
|
G | A | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.768-10427G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982738 | ||||||
chr17:29982742
|
A | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-10423A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982742 | ||||||
chr17:29982958
|
G | A | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.768-10207G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982958 | ||||||
chr17:29983282
|
C | T | 29 | a0002c0005t0002g0064a0003c0003t0002g0132a0003c0003t0002g0133others(26): Show | 29 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(26): Show |
intron_variant | MODIFIER | c.768-9883C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983282 | ||||||
chr17:29983323
|
G | A | 1 | a0001c0001t0001g0188 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.768-9842G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983323 | ||||||
chr17:29983712
|
G | C | 1 | a0002c0002t0002g0065 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.768-9453G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983712 | ||||||
chr17:29983988
|
T | G | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-9177T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983988 | ||||||
chr17:29984269
|
G | C | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.768-8896G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984269 | ||||||
chr17:29984417
|
C | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-8748C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984417 | ||||||
chr17:29984485
|
C | T | 1 | a0003c0003t0002g0138 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.768-8680C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984485 | ||||||
chr17:29984527
|
G | A | 1 | a0002c0002t0002g0022 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.768-8638G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984527 | ||||||
chr17:29985265
|
C | T | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.768-7900C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985265 | ||||||
chr17:29985341
|
A | G | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.768-7824A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985341 | ||||||
chr17:29985622
|
A | G | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.768-7543A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985622 | ||||||
chr17:29985717
|
T | C | 1 | a0003c0003t0002g0142 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.768-7448T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985717 | ||||||
chr17:29985766
|
G | A | 6 | a0002c0002t0002g0032a0002c0002t0002g0033a0002c0002t0002g0034others(3): Show | 6 | HG01081.hp2 HG01109.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.768-7399G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985766 | ||||||
chr17:29985918
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.768-7247C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985918 | ||||||
chr17:29985975
|
T | C | 126 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113others(123): Show | 127 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.768-7190T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985975 | ||||||
chr17:29986109
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-7056G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986109 | ||||||
chr17:29986151
|
T | C | 1 | a0001c0001t0001g0208 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.768-7014T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986151 | ||||||
chr17:29986176
|
C | T | 85 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(82): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.768-6989C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986176 | ||||||
chr17:29986274
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-6891C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986274 | ||||||
chr17:29986323
|
C | A | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.768-6842C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986323 | ||||||
chr17:29986344
|
G | A | 2 | a0001c0001t0001g0156a0001c0001t0001g0193 | 2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.768-6821G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986344 | ||||||
chr17:29986509
|
C | A | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-6656C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986509 | ||||||
chr17:29986637
|
A | AT | 94 | a0001c0001t0001g0011a0001c0001t0001g0108a0001c0001t0001g0109others(91): Show | 95 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.768-6499dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986637
|
A | ATT | 27 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0121others(24): Show | 27 | HG01109.hp2 HG01243.hp1 HG01261.hp1 others(24): Show |
intron_variant | MODIFIER | c.768-6500_768-6499d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986637
|
A | ATTT | 11 | a0001c0001t0001g0149a0002c0002t0002g0031a0003c0006t0002g0003others(8): Show | 11 | HG01361.hp2 HG01496.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.768-6501_768-6499d others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986637
|
A | ATTTTTTT | 9 | a0003c0003t0002g0134a0003c0003t0002g0136a0003c0003t0002g0137others(6): Show | 9 | HG00741.hp1 HG01243.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-6505_768-6499d others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986637
|
A | ATTTTTTT others(3): Show |
4 | a0003c0003t0002g0213a0003c0003t0002g0214a0003c0003t0002g0215others(1): Show | 4 | HG01884.hp1 HG02559.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-6508_768-6499d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986637
|
A | T | 5 | a0001c0001t0001g0155a0001c0001t0001g0164a0001c0001t0001g0204others(2): Show | 5 | HG01952.hp2 HG02622.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-6528A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986637 | ||||||
chr17:29986637
|
AT | A | 5 | a0001c0001t0001g0115a0001c0001t0001g0124a0001c0001t0001g0125others(2): Show | 5 | HG01069.hp2 HG01071.hp2 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-6499delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | |||||
chr17:29986686
|
G | A | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.768-6479G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986686 | ||||||
chr17:29986869
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.768-6296G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986869 | ||||||
chr17:29986927
|
G | A | 19 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.768-6238G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986927 | ||||||
chr17:29987204
|
G | T | 1 | a0001c0001t0001g0148 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.768-5961G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987204 | ||||||
chr17:29987232
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-5933C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987232 | ||||||
chr17:29987368
|
C | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-5797C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987368 | ||||||
chr17:29987465
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-5700G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987465 | ||||||
chr17:29988088
|
G | A | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.768-5077G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988088 | ||||||
chr17:29988106
|
A | C | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-5059A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988106 | ||||||
chr17:29988124
|
T | C | 2 | a0001c0001t0001g0114a0001c0001t0001g0117 | 2 | HG01346.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.768-5041T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988124 | ||||||
chr17:29988136
|
C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.768-5029C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988136 | ||||||
chr17:29988488
|
C | T | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.768-4677C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988488 | ||||||
chr17:29988710
|
A | G | 3 | a0007c0009t0002g0100a0007c0009t0002g0101a0007c0009t0002g0102 | 3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.768-4455A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988710 | ||||||
chr17:29989136
|
A | T | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.768-4029A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989136 | ||||||
chr17:29989357
|
C | T | 9 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(6): Show | 9 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-3808C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989357 | ||||||
chr17:29989386
|
C | T | 1 | a0001c0001t0001g0209 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.768-3779C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989386 | ||||||
chr17:29989387
|
G | A | 3 | a0001c0001t0001g0111a0001c0001t0001g0112a0002c0002t0002g0066 | 3 | HG02257.hp1 HG02486.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.768-3778G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989387 | ||||||
chr17:29989393
|
C | A | 1 | a0015c0015t0002g0078 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.768-3772C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989393 | ||||||
chr17:29989460
|
G | A | 2 | a0001c0001t0001g0121a0001c0001t0001g0122 | 2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.768-3705G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989460 | ||||||
chr17:29989670
|
A | AT | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.768-3489dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29989670 | |||||
chr17:29989841
|
G | A | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.768-3324G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989841 | ||||||
chr17:29989973
|
G | A | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-3192G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989973 | ||||||
chr17:29990106
|
T | C | 246 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(243): Show | 247 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
intron_variant | MODIFIER | c.768-3059T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990106 | ||||||
chr17:29990133
|
T | A | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-3032T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990133 | ||||||
chr17:29990188
|
T | G | 1 | a0001c0001t0001g0193 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.768-2977T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990188 | ||||||
chr17:29990546
|
A | G | 35 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(32): Show | 35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.768-2619A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990546 | ||||||
chr17:29990576
|
C | A | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-2589C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990576 | ||||||
chr17:29990639
|
A | T | 82 | a0001c0012t0001g0196a0002c0002t0002g0001a0002c0002t0002g0002others(79): Show | 83 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.768-2526A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990639 | ||||||
chr17:29990718
|
T | G | 1 | a0002c0002t0002g0071 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.768-2447T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990718 | ||||||
chr17:29990861
|
T | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-2304T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990861 | ||||||
chr17:29991049
|
C | A | 1 | a0003c0003t0002g0138 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.768-2116C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991049 | ||||||
chr17:29991058
|
T | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-2107T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991058 | ||||||
chr17:29991297
|
C | T | 1 | a0001c0001t0001g0117 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.768-1868C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991297 | ||||||
chr17:29991380
|
G | A | 28 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(25): Show | 28 | HG00140.hp2 HG00733.hp2 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.768-1785G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991380 | ||||||
chr17:29991909
|
A | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-1256A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991909 | ||||||
chr17:29992015
|
A | G | 1 | a0004c0004t0002g0098 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.768-1150A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992015 | ||||||
chr17:29992370
|
C | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-795C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992370 | ||||||
chr17:29992409
|
G | A | 76 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(73): Show | 76 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.768-756G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992409 | ||||||
chr17:29992472
|
C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.768-693C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992472 | ||||||
chr17:29992508
|
C | T | 1 | a0001c0001t0001g0169 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.768-657C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992508 | ||||||
chr17:29992520
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-645G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992520 | ||||||
chr17:29992868
|
C | A | 1 | a0002c0002t0002g0045 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.768-297C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992868 | ||||||
chr17:29993066
|
A | T | 5 | a0003c0003t0002g0213a0003c0003t0002g0214a0003c0003t0002g0215others(2): Show | 5 | HG01884.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-99A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29993066 | ||||||
chr17:29993124
|
G | A | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.768-41G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29993124 | ||||||
chr17:29993455
|
G | T | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.924+134G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993455 | ||||||
chr17:29993885
|
G | A | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.924+564G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993885 | ||||||
chr17:29993959
|
G | A | 2 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.924+638G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993959 | ||||||
chr17:29993969
|
A | G | 3 | a0001c0001t0001g0114a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | HG01346.hp2 HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.924+648A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993969 | ||||||
chr17:29994098
|
C | T | 3 | a0001c0001t0001g0148a0001c0001t0001g0176a0001c0001t0001g0177 | 3 | HG01891.hp2 HG01934.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.924+777C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994098 | ||||||
chr17:29994133
|
A | AAT | 32 | a0001c0001t0001g0011a0001c0001t0001g0115a0001c0001t0001g0122others(29): Show | 32 | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(29): Show |
intron_variant | MODIFIER | c.924+855_924+856dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATAT | 12 | a0001c0001t0001g0009a0001c0001t0001g0108a0001c0001t0001g0121others(9): Show | 13 | HG00408.hp2 HG00639.hp1 HG00733.hp1 others(10): Show |
intron_variant | MODIFIER | c.924+853_924+856dup others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATAT | 15 | a0001c0001t0001g0107a0001c0001t0001g0170a0001c0001t0001g0176others(12): Show | 15 | HG00639.hp2 HG00642.hp2 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.924+851_924+856dup others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATATA others(1): Show |
11 | a0001c0001t0001g0203a0001c0001t0001g0206a0001c0001t0001g0207others(8): Show | 11 | HG00408.hp1 HG00642.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.924+849_924+856dup others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATATA others(3): Show |
5 | a0001c0001t0001g0224a0001c0001t0001g0242a0002c0002t0002g0042others(2): Show | 5 | HG01070.hp1 HG01071.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.924+847_924+856dup others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATATA others(5): Show |
2 | a0002c0002t0002g0082a0002c0002t0002g0087 | 2 | HG02735.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.924+845_924+856dup others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATATA others(7): Show |
1 | a0001c0001t0001g0010 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.924+843_924+856dup others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
A | AATATATA others(11): Show |
1 | a0016c0026t0002g0083 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.924+839_924+856dup others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AAT | A | 21 | a0001c0001t0001g0007a0001c0001t0001g0148a0001c0001t0001g0150others(18): Show | 21 | HG00099.hp2 HG01099.hp2 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.924+855_924+856del others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATAT | A | 27 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0124others(24): Show | 27 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.924+853_924+856del others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATAT | A | 14 | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0001t0001g0119others(11): Show | 14 | HG01433.hp1 HG01496.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.924+851_924+856del others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(1): Show |
A | 12 | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0001g0123others(9): Show | 12 | HG01168.hp1 HG01517.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.924+849_924+856del others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(3): Show |
A | 8 | a0001c0001t0001g0111a0001c0001t0001g0152a0001c0001t0001g0162others(5): Show | 8 | HG00140.hp2 HG00733.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.924+847_924+856del others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(5): Show |
A | 25 | a0001c0001t0001g0120a0001c0001t0001g0179a0001c0001t0001g0185others(22): Show | 25 | HG00280.hp1 HG01168.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.924+845_924+856del others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(7): Show |
A | 7 | a0001c0001t0001g0156a0004c0004t0002g0097a0004c0004t0002g0098others(4): Show | 7 | HG02895.hp1 HG02896.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.924+843_924+856del others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(9): Show |
A | 5 | a0002c0002t0002g0095a0003c0003t0002g0144a0004c0004t0002g0105others(2): Show | 5 | HG00741.hp1 HG01934.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.924+841_924+856del others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(11): Show |
A | 4 | a0002c0002t0002g0089a0002c0020t0002g0019a0003c0006t0002g0005others(1): Show | 4 | HG00621.hp1 HG02615.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.924+839_924+856del others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(13): Show |
A | 3 | a0006c0008t0002g0016a0006c0008t0002g0017a0014c0021t0002g0012 | 3 | HG02723.hp2 HG03130.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.924+837_924+856del others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(15): Show |
A | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.924+835_924+856del others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994133
|
AATATATA others(21): Show |
A | 1 | a0002c0002t0002g0062 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.924+829_924+856del others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | |||||
chr17:29994167
|
T | TATATATA others(7): Show |
2 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | HG01256.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.924+856_924+857ins others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994167 | |||||
chr17:29994178
|
G | A | 2 | a0001c0001t0001g0225a0002c0002t0002g0043 | 2 | HG02523.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.924+857G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994178 | ||||||
chr17:29994208
|
G | A | 123 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(120): Show | 124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.924+887G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994208 | ||||||
chr17:29994310
|
T | A | 143 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(140): Show | 144 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.924+989T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994310 | ||||||
chr17:29994360
|
A | C | 2 | a0002c0002t0002g0076a0002c0002t0002g0077 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.924+1039A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994360 | ||||||
chr17:29995015
|
G | A | 1 | a0002c0002t0002g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.925-1297G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995015 | ||||||
chr17:29995173
|
C | G | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.925-1139C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995173 | ||||||
chr17:29995332
|
C | T | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.925-980C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995332 | ||||||
chr17:29995917
|
C | T | 81 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(78): Show | 82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.925-395C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995917 | ||||||
chr17:29995923
|
G | A | 85 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(82): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.925-389G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995923 | ||||||
chr17:29996481
|
A | G | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.973+121A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996481 | ||||||
chr17:29996528
|
C | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.973+168C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996528 | ||||||
chr17:29996539
|
T | C | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.973+179T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996539 | ||||||
chr17:29996657
|
T | G | 2 | a0001c0001t0001g0156a0001c0001t0001g0193 | 2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.973+297T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996657 | ||||||
chr17:29996723
|
T | C | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.973+363T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996723 | ||||||
chr17:29996942
|
C | G | 1 | a0001c0001t0001g0179 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.973+582C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996942 | ||||||
chr17:29997036
|
A | G | 1 | a0002c0002t0002g0057 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.973+676A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997036 | ||||||
chr17:29997243
|
TA | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0203a0001c0001t0001g0204others(2): Show | 5 | HG00621.hp1 HG01884.hp1 HG02056.hp1 others(2): Show |
intron_variant | MODIFIER | c.973+898delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997243 | |||||
chr17:29997256
|
A | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.973+896A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997256 | ||||||
chr17:29997314
|
T | C | 1 | a0001c0001t0001g0189 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.973+954T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997314 | ||||||
chr17:29997377
|
TAA | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.973+1018_973+1019d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997377 | ||||||
chr17:29997446
|
A | AAT | 11 | a0001c0001t0001g0109a0001c0001t0001g0115a0001c0001t0001g0148others(8): Show | 11 | HG01934.hp2 HG02615.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.973+1102_973+1103d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997446 | |||||
chr17:29997515
|
A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.973+1155A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997515 | ||||||
chr17:29997539
|
A | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.973+1179A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997539 | ||||||
chr17:29997936
|
G | GA | 7 | a0001c0001t0001g0128a0001c0001t0001g0166a0001c0001t0001g0219others(4): Show | 7 | HG01891.hp1 HG02615.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.973+1590dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997936 | |||||
chr17:29997936
|
GA | G | 10 | a0002c0002t0002g0045a0003c0003t0002g0132a0003c0003t0002g0133others(7): Show | 10 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.973+1590delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997936 | |||||
chr17:29997950
|
A | C | 1 | a0001c0001t0001g0177 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.973+1590A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997950 | ||||||
chr17:29998361
|
G | GT | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.974-1542dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29998361 | |||||
chr17:29998417
|
AATATTCA others(10): Show |
A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.974-1487_974-1471d others(19): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29998417 | |||||
chr17:29999154
|
A | G | 3 | a0003c0003t0002g0137a0008c0011t0002g0020a0008c0011t0002g0021 | 3 | HG01891.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.974-752A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999154 | ||||||
chr17:29999191
|
T | G | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.974-715T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999191 | ||||||
chr17:29999194
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.974-712G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999194 | ||||||
chr17:29999198
|
T | G | 2 | a0003c0003t0002g0140a0003c0003t0002g0141 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.974-708T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999198 | ||||||
chr17:29999244
|
G | A | 2 | a0001c0001t0001g0211a0001c0001t0001g0247 | 2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.974-662G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999244 | ||||||
chr17:29999261
|
T | C | 35 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(32): Show | 35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.974-645T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999261 | ||||||
chr17:29999308
|
G | GTA | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.974-587_974-586dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29999308 | |||||
chr17:29999328
|
A | G | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.974-578A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999328 | ||||||
chr17:29999636
|
A | T | 1 | a0001c0001t0001g0198 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.974-270A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999636 | ||||||
chr17:29999791
|
A | G | 3 | a0003c0003t0002g0137a0008c0011t0002g0020a0008c0011t0002g0021 | 3 | HG01891.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.974-115A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999791 | ||||||
chr17:29999840
|
T | C | 1 | a0003c0003t0002g0137 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.974-66T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999840 | ||||||
chr17:30000027
|
A | G | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+51A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000027 | ||||||
chr17:30000360
|
G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1044+384G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000360 | ||||||
chr17:30000564
|
A | G | 50 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(47): Show | 50 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.1044+588A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000564 | ||||||
chr17:30000620
|
A | C | 2 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | HG01256.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1044+644A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000620 | ||||||
chr17:30000649
|
A | T | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1044+673A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000649 | ||||||
chr17:30000776
|
G | A | 2 | a0001c0001t0001g0166a0001c0001t0001g0208 | 2 | NA18940.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.1044+800G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000776 | ||||||
chr17:30000821
|
G | C | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+845G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000821 | ||||||
chr17:30000867
|
C | T | 50 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(47): Show | 50 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.1044+891C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000867 | ||||||
chr17:30001030
|
C | G | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1044+1054C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30001030 | ||||||
chr17:30001801
|
G | C | 97 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(94): Show | 97 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
intron_variant | MODIFIER | c.1044+1825G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30001801 | ||||||
chr17:30002618
|
A | G | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+2642A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002618 | ||||||
chr17:30002688
|
T | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1044+2712T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002688 | ||||||
chr17:30002706
|
C | G | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+2730C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002706 | ||||||
chr17:30003051
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1044+3075G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003051 | ||||||
chr17:30003100
|
G | C | 6 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(3): Show | 6 | HG01891.hp1 HG02451.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1044+3124G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003100 | ||||||
chr17:30003104
|
G | A | 5 | a0001c0001t0001g0147a0003c0003t0002g0132a0003c0003t0002g0133others(2): Show | 5 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1044+3128G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003104 | ||||||
chr17:30003105
|
G | T | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+3129G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003105 | ||||||
chr17:30003107
|
G | T | 1 | a0001c0012t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1044+3131G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003107 | ||||||
chr17:30003261
|
G | A | 1 | a0002c0002t0002g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1044+3285G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003261 | ||||||
chr17:30003262
|
T | G | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1044+3286T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003262 | ||||||
chr17:30003302
|
C | T | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+3326C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003302 | ||||||
chr17:30003453
|
A | T | 1 | a0001c0001t0001g0117 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1044+3477A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003453 | ||||||
chr17:30003654
|
C | A | 34 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(31): Show | 34 | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(31): Show |
intron_variant | MODIFIER | c.1044+3678C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003654 | ||||||
chr17:30004096
|
C | T | 8 | a0001c0001t0001g0152a0001c0001t0001g0165a0001c0001t0001g0184others(5): Show | 8 | HG00140.hp2 HG00733.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.1044+4120C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004096 | ||||||
chr17:30004129
|
G | A | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+4153G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004129 | ||||||
chr17:30004139
|
G | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+4163G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004139 | ||||||
chr17:30004307
|
G | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1044+4331G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004307 | ||||||
chr17:30004408
|
C | T | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1044+4432C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004408 | ||||||
chr17:30004431
|
G | A | 2 | a0002c0002t0002g0032a0002c0002t0002g0033 | 2 | HG01109.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.1044+4455G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004431 | ||||||
chr17:30004448
|
T | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+4472T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004448 | ||||||
chr17:30004460
|
T | A | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1044+4484T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004460 | ||||||
chr17:30004787
|
A | AT | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1044+4832dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | |||||
chr17:30004787
|
A | ATT | 10 | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0001t0001g0114others(7): Show | 10 | HG01346.hp2 HG01884.hp2 HG02148.hp2 others(7): Show |
intron_variant | MODIFIER | c.1044+4831_1044+483 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | |||||
chr17:30004787
|
AT | A | 30 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(27): Show | 30 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.1044+4832delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | |||||
chr17:30004839
|
G | A | 1 | a0002c0002t0002g0049 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1044+4863G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004839 | ||||||
chr17:30004932
|
G | A | 2 | a0001c0001t0001g0114a0001c0001t0001g0117 | 2 | HG01346.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1044+4956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004932 | ||||||
chr17:30005049
|
C | T | 1 | a0002c0002t0002g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1044+5073C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005049 | ||||||
chr17:30005089
|
T | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+5113T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005089 | ||||||
chr17:30005398
|
C | T | 2 | a0002c0002t0002g0076a0002c0002t0002g0077 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1044+5422C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005398 | ||||||
chr17:30005463
|
A | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+5487A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005463 | ||||||
chr17:30005812
|
G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1044+5836G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005812 | ||||||
chr17:30005922
|
T | C | 2 | a0001c0001t0001g0153a0001c0001t0001g0154 | 2 | HG02717.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1044+5946T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005922 | ||||||
chr17:30006272
|
G | A | 2 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.1044+6296G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006272 | ||||||
chr17:30006367
|
A | G | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+6391A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006367 | ||||||
chr17:30006485
|
T | C | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1044+6509T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006485 | ||||||
chr17:30006690
|
C | T | 1 | a0003c0003t0002g0133 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1044+6714C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006690 | ||||||
chr17:30007223
|
G | A | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+7247G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007223 | ||||||
chr17:30007302
|
G | C | 2 | a0003c0003t0002g0142a0003c0003t0002g0145 | 2 | HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1044+7326G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007302 | ||||||
chr17:30007692
|
G | A | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1044+7716G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007692 | ||||||
chr17:30007756
|
G | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+7780G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007756 | ||||||
chr17:30008068
|
G | GC | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+8093dupC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008068 | |||||
chr17:30008070
|
A | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+8094A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008070 | ||||||
chr17:30008154
|
GGATGAAA others(3): Show |
G | 3 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1044+8187_1044+819 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008154 | |||||
chr17:30008175
|
A | G | 2 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1044+8199A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008175 | ||||||
chr17:30008221
|
TAAAC | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+8249_1044+825 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008221 | |||||
chr17:30008499
|
G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1044+8523G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008499 | ||||||
chr17:30008589
|
CA | C | 6 | a0001c0001t0001g0152a0001c0001t0001g0165a0001c0001t0001g0189others(3): Show | 6 | HG00140.hp2 HG00733.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.1044+8625delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008589 | |||||
chr17:30008601
|
A | T | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1044+8625A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008601 | ||||||
chr17:30008615
|
T | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+8639T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008615 | ||||||
chr17:30008731
|
C | G | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+8755C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008731 | ||||||
chr17:30008763
|
A | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1044+8787A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008763 | ||||||
chr17:30008765
|
T | A | 1 | a0001c0001t0001g0155 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1044+8789T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008765 | ||||||
chr17:30008931
|
T | G | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+8955T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008931 | ||||||
chr17:30009281
|
T | C | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1044+9305T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009281 | ||||||
chr17:30009411
|
CT | C | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1044+9436delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009411 | ||||||
chr17:30009414
|
G | T | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1044+9438G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009414 | ||||||
chr17:30009474
|
T | C | 3 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119 | 3 | HG02622.hp1 HG02809.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1044+9498T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009474 | ||||||
chr17:30009754
|
T | C | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1044+9778T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009754 | ||||||
chr17:30009844
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+9868G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009844 | ||||||
chr17:30010027
|
A | G | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1044+10051A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010027 | ||||||
chr17:30010101
|
C | T | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1044+10125C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010101 | ||||||
chr17:30010255
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+10279C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010255 | ||||||
chr17:30010256
|
G | A | 1 | a0002c0002t0002g0068 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1044+10280G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010256 | ||||||
chr17:30010289
|
T | C | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1044+10313T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010289 | ||||||
chr17:30010503
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+10527C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010503 | ||||||
chr17:30010708
|
C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1044+10732C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010708 | ||||||
chr17:30010744
|
G | A | 1 | a0002c0002t0002g0036 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1044+10768G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010744 | ||||||
chr17:30010888
|
T | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+10912T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010888 | ||||||
chr17:30010891
|
C | A | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1044+10915C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010891 | ||||||
chr17:30011231
|
G | C | 22 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(19): Show | 22 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.1044+11255G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011231 | ||||||
chr17:30011235
|
G | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1044+11259G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011235 | ||||||
chr17:30011285
|
C | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1044+11309C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011285 | ||||||
chr17:30011286
|
A | G | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1044+11310A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011286 | ||||||
chr17:30011376
|
A | G | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+11400A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011376 | ||||||
chr17:30011387
|
AC | A | 8 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.1044+11413delC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30011387 | |||||
chr17:30011412
|
C | T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+11436C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011412 | ||||||
chr17:30011497
|
G | A | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1044+11521G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011497 | ||||||
chr17:30011561
|
G | A | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1044+11585G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011561 | ||||||
chr17:30011613
|
T | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+11637T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011613 | ||||||
chr17:30011633
|
T | C | 2 | a0004c0004t0002g0015a0004c0004t0002g0099 | 2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1044+11657T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011633 | ||||||
chr17:30011975
|
T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1044+11999T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011975 | ||||||
chr17:30012216
|
G | C | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1044+12240G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012216 | ||||||
chr17:30012247
|
A | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+12271A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012247 | ||||||
chr17:30012287
|
C | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1044+12311C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012287 | ||||||
chr17:30012293
|
C | T | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+12317C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012293 | ||||||
chr17:30012512
|
C | T | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+12536C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012512 | ||||||
chr17:30012649
|
C | T | 2 | a0001c0001t0001g0120a0002c0002t0002g0022 | 2 | HG01993.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1044+12673C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012649 | ||||||
chr17:30012672
|
G | A | 2 | a0001c0001t0001g0109a0001c0001t0001g0115 | 2 | HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1044+12696G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012672 | ||||||
chr17:30012730
|
C | T | 2 | a0001c0001t0001g0211a0001c0001t0001g0247 | 2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1044+12754C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012730 | ||||||
chr17:30012866
|
A | T | 2 | a0001c0001t0001g0160a0001c0001t0001g0207 | 2 | HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1044+12890A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012866 | ||||||
chr17:30012886
|
T | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1044+12910T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012886 | ||||||
chr17:30013230
|
T | C | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+13254T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013230 | ||||||
chr17:30013357
|
G | T | 4 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(1): Show | 4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+13381G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013357 | ||||||
chr17:30013599
|
T | C | 8 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.1044+13623T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013599 | ||||||
chr17:30013691
|
C | A | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1044+13715C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013691 | ||||||
chr17:30014067
|
C | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1044+14091C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014067 | ||||||
chr17:30014099
|
G | A | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+14123G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014099 | ||||||
chr17:30014289
|
G | A | 1 | a0001c0001t0001g0171 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1044+14313G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014289 | ||||||
chr17:30014511
|
T | C | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+14535T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014511 | ||||||
chr17:30014537
|
C | T | 1 | a0004c0004t0002g0015 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1044+14561C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014537 | ||||||
chr17:30014566
|
G | T | 12 | a0001c0001t0001g0147a0001c0001t0001g0166a0001c0001t0001g0171others(9): Show | 12 | HG00140.hp1 HG00609.hp2 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.1044+14590G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014566 | ||||||
chr17:30014661
|
T | G | 97 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(94): Show | 97 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
intron_variant | MODIFIER | c.1044+14685T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014661 | ||||||
chr17:30014724
|
A | T | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+14748A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014724 | ||||||
chr17:30014791
|
C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1044+14815C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014791 | ||||||
chr17:30014811
|
A | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1044+14835A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014811 | ||||||
chr17:30014937
|
T | C | 160 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(157): Show | 160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1044+14961T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014937 | ||||||
chr17:30015204
|
C | T | 3 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1044+15228C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015204 | ||||||
chr17:30015759
|
C | CT | 9 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0143others(6): Show | 9 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+15800dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | |||||
chr17:30015759
|
CT | C | 106 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(103): Show | 106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.1044+15800delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | |||||
chr17:30015759
|
CTT | C | 25 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(22): Show | 25 | HG00408.hp1 HG00621.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.1044+15799_1044+15 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | |||||
chr17:30015879
|
A | G | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+15903A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015879 | ||||||
chr17:30015882
|
G | A | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1044+15906G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015882 | ||||||
chr17:30016066
|
A | G | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+16090A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016066 | ||||||
chr17:30016145
|
G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1044+16169G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016145 | ||||||
chr17:30016874
|
A | C | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+16898A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016874 | ||||||
chr17:30016981
|
C | G | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+17005C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016981 | ||||||
chr17:30016995
|
T | C | 1 | a0002c0002t0002g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1044+17019T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016995 | ||||||
chr17:30017170
|
G | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1045-17060G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017170 | ||||||
chr17:30017211
|
C | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1045-17019C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017211 | ||||||
chr17:30017243
|
A | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-16987A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017243 | ||||||
chr17:30017258
|
G | A | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1045-16972G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017258 | ||||||
chr17:30017301
|
G | A | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-16929G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017301 | ||||||
chr17:30017431
|
TACTACGC others(1): Show |
T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-16793_1045-16 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30017431 | |||||
chr17:30017446
|
G | A | 1 | a0002c0002t0002g0055 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1045-16784G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017446 | ||||||
chr17:30017694
|
T | C | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1045-16536T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017694 | ||||||
chr17:30018269
|
T | A | 1 | a0001c0001t0001g0169 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1045-15961T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30018269 | ||||||
chr17:30018835
|
T | A | 2 | a0001c0001t0001g0109a0001c0001t0001g0115 | 2 | HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1045-15395T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30018835 | ||||||
chr17:30019111
|
G | A | 3 | a0004c0004t0002g0097a0004c0004t0002g0104a0004c0004t0002g0105 | 3 | HG02895.hp1 HG02896.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1045-15119G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019111 | ||||||
chr17:30019447
|
C | CT | 19 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(16): Show | 19 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1045-14768dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30019447 | |||||
chr17:30019548
|
C | T | 1 | a0001c0001t0001g0220 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1045-14682C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019548 | ||||||
chr17:30019683
|
T | C | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1045-14547T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019683 | ||||||
chr17:30019922
|
C | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-14308C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019922 | ||||||
chr17:30019923
|
G | A | 1 | a0002c0002t0002g0089 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1045-14307G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019923 | ||||||
chr17:30020036
|
T | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-14194T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020036 | ||||||
chr17:30020039
|
T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1045-14191T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020039 | ||||||
chr17:30020270
|
G | A | 3 | a0001c0001t0001g0235a0001c0001t0001g0238a0001c0001t0001g0245 | 3 | NA18964.hp1 NA18993.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.1045-13960G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020270 | ||||||
chr17:30020356
|
C | CT | 10 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-13861dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30020356 | |||||
chr17:30020515
|
C | T | 1 | a0001c0001t0001g0220 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1045-13715C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020515 | ||||||
chr17:30020606
|
C | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1045-13624C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020606 | ||||||
chr17:30020652
|
G | A | 2 | a0001c0001t0001g0185a0001c0001t0001g0186 | 2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1045-13578G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020652 | ||||||
chr17:30020790
|
C | T | 1 | a0002c0002t0002g0069 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1045-13440C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020790 | ||||||
chr17:30020942
|
G | GTAATAAA others(15): Show |
162 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(159): Show | 162 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
intron_variant | MODIFIER | c.1045-13286_1045-13 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30020942 | |||||
chr17:30020948
|
G | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-13282G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020948 | ||||||
chr17:30021026
|
T | A | 4 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(1): Show | 4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-13204T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021026 | ||||||
chr17:30021136
|
A | AT | 10 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(7): Show | 10 | HG01891.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-13081dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021136 | |||||
chr17:30021136
|
A | ATT | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1045-13082_1045-13 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021136 | |||||
chr17:30021426
|
TATA | T | 17 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(14): Show | 17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.1045-12801_1045-12 others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021426 | |||||
chr17:30021471
|
T | C | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1045-12759T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021471 | ||||||
chr17:30021715
|
T | G | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1045-12515T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021715 | ||||||
chr17:30022077
|
G | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1045-12153G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022077 | ||||||
chr17:30022369
|
A | T | 2 | a0002c0002t0002g0068a0002c0002t0002g0069 | 2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1045-11861A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022369 | ||||||
chr17:30022426
|
C | T | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1045-11804C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022426 | ||||||
chr17:30022448
|
T | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1045-11782T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022448 | ||||||
chr17:30022453
|
A | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-11777A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022453 | ||||||
chr17:30022458
|
G | A | 96 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(93): Show | 96 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(93): Show |
intron_variant | MODIFIER | c.1045-11772G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022458 | ||||||
chr17:30022679
|
C | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-11551C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022679 | ||||||
chr17:30022874
|
A | T | 2 | a0001c0001t0001g0173a0001c0001t0001g0209 | 2 | HG00609.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.1045-11356A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022874 | ||||||
chr17:30022973
|
T | C | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1045-11257T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022973 | ||||||
chr17:30023032
|
T | C | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-11198T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023032 | ||||||
chr17:30023215
|
C | A | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1045-11015C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023215 | ||||||
chr17:30023357
|
C | T | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1045-10873C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023357 | ||||||
chr17:30023451
|
G | A | 35 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(32): Show | 35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.1045-10779G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023451 | ||||||
chr17:30023582
|
T | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1045-10648T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023582 | ||||||
chr17:30023595
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-10635C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023595 | ||||||
chr17:30023777
|
C | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-10453C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023777 | ||||||
chr17:30023816
|
C | A | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1045-10414C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023816 | ||||||
chr17:30023857
|
G | A | 6 | a0002c0002t0002g0032a0002c0002t0002g0033a0002c0002t0002g0034others(3): Show | 6 | HG01081.hp2 HG01109.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.1045-10373G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023857 | ||||||
chr17:30023880
|
T | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-10350T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023880 | ||||||
chr17:30023903
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1045-10327G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023903 | ||||||
chr17:30024066
|
G | C | 1 | a0002c0002t0002g0080 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1045-10164G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024066 | ||||||
chr17:30024190
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1045-10040G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024190 | ||||||
chr17:30024329
|
C | T | 2 | a0001c0001t0001g0168a0014c0021t0002g0012 | 2 | HG02683.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-9901C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024329 | ||||||
chr17:30024629
|
A | G | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-9601A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024629 | ||||||
chr17:30024862
|
C | T | 2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-9368C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024862 | ||||||
chr17:30024954
|
A | G | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1045-9276A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024954 | ||||||
chr17:30025057
|
G | T | 3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-9173G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025057 | ||||||
chr17:30025101
|
G | T | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1045-9129G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025101 | ||||||
chr17:30025244
|
G | A | 1 | a0001c0001t0001g0210 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1045-8986G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025244 | ||||||
chr17:30025337
|
A | C | 6 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1045-8893A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025337 | ||||||
chr17:30025790
|
C | T | 2 | a0003c0003t0002g0140a0003c0003t0002g0141 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.1045-8440C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025790 | ||||||
chr17:30026028
|
C | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1045-8202C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026028 | ||||||
chr17:30026033
|
G | C | 4 | a0001c0001t0001g0236a0008c0011t0002g0020a0008c0011t0002g0021others(1): Show | 4 | HG01891.hp1 HG01978.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1045-8197G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026033 | ||||||
chr17:30026178
|
AAAAT | A | 3 | a0001c0001t0001g0170a0001c0001t0001g0175a0001c0001t0001g0180 | 3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1045-8029_1045-802 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026178 | |||||
chr17:30026182
|
T | A | 1 | a0002c0002t0002g0046 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1045-8048T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026182 | ||||||
chr17:30026257
|
C | T | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1045-7973C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026257 | ||||||
chr17:30026696
|
A | C | 1 | a0002c0017t0002g0035 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1045-7534A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026696 | ||||||
chr17:30026953
|
C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1045-7277C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026953 | ||||||
chr17:30026961
|
CT | C | 28 | a0002c0002t0002g0029a0002c0002t0002g0032a0002c0002t0002g0033others(25): Show | 28 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(25): Show |
intron_variant | MODIFIER | c.1045-7226delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTT | C | 17 | a0002c0002t0002g0001a0002c0002t0002g0026a0002c0002t0002g0027others(14): Show | 18 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(15): Show |
intron_variant | MODIFIER | c.1045-7227_1045-722 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTT | C | 5 | a0001c0001t0001g0113a0002c0002t0002g0076a0002c0002t0002g0077others(2): Show | 5 | HG01168.hp2 HG01169.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.1045-7228_1045-722 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT | C | 9 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0119others(6): Show | 9 | HG01255.hp1 HG02055.hp2 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.1045-7232_1045-722 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(1): Show |
C | 12 | a0001c0001t0001g0110a0001c0001t0001g0114a0001c0001t0001g0115others(9): Show | 12 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.1045-7233_1045-722 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(2): Show |
C | 30 | a0001c0001t0001g0122a0001c0001t0001g0146a0001c0001t0001g0147others(27): Show | 30 | HG00280.hp2 HG01099.hp2 HG01123.hp1 others(27): Show |
intron_variant | MODIFIER | c.1045-7234_1045-722 others(13): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(3): Show |
C | 51 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(48): Show |
intron_variant | MODIFIER | c.1045-7235_1045-722 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(4): Show |
C | 8 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0175others(5): Show | 8 | HG00323.hp2 HG01934.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1045-7236_1045-722 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(5): Show |
C | 6 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0185others(3): Show | 6 | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1045-7237_1045-722 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(6): Show |
C | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-7238_1045-722 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(7): Show |
C | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1045-7239_1045-722 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(9): Show |
C | 1 | a0003c0003t0002g0136 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1045-7241_1045-722 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(10): Show |
C | 7 | a0002c0002t0002g0062a0003c0003t0002g0135a0003c0003t0002g0137others(4): Show | 7 | HG01243.hp2 HG02055.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1045-7242_1045-722 others(21): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(11): Show |
C | 15 | a0002c0002t0002g0036a0003c0003t0002g0140a0003c0003t0002g0141others(12): Show | 15 | HG00741.hp1 HG01516.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.1045-7243_1045-722 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(12): Show |
C | 13 | a0002c0002t0002g0013a0003c0003t0002g0132a0003c0003t0002g0133others(10): Show | 13 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.1045-7244_1045-722 others(23): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(14): Show |
C | 1 | a0001c0001t0001g0219 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1045-7246_1045-722 others(25): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(15): Show |
C | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1045-7247_1045-722 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026961
|
CTTTTTTT others(17): Show |
C | 3 | a0002c0002t0002g0022a0002c0002t0002g0023a0002c0002t0002g0024 | 3 | HG00323.hp1 HG01993.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1045-7249_1045-722 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | |||||
chr17:30026974
|
T | C | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1045-7256T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026974 | ||||||
chr17:30027017
|
C | T | 1 | a0002c0005t0002g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1045-7213C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027017 | ||||||
chr17:30027025
|
C | T | 1 | a0006c0008t0002g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1045-7205C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027025 | ||||||
chr17:30027026
|
G | A | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1045-7204G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027026 | ||||||
chr17:30027236
|
C | T | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-6994C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027236 | ||||||
chr17:30027257
|
T | G | 2 | a0001c0001t0001g0175a0001c0001t0001g0180 | 2 | HG03195.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1045-6973T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027257 | ||||||
chr17:30027267
|
G | T | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1045-6963G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027267 | ||||||
chr17:30027275
|
A | G | 1 | a0002c0002t0002g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1045-6955A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027275 | ||||||
chr17:30027293
|
C | CT | 25 | a0001c0001t0001g0112a0001c0001t0001g0164a0001c0001t0001g0195others(22): Show | 26 | HG00639.hp1 HG00733.hp1 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.1045-6911dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30027293 | |||||
chr17:30027293
|
CT | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0146a0001c0001t0001g0171others(7): Show | 10 | HG00099.hp1 HG00280.hp1 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.1045-6911delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30027293 | |||||
chr17:30027295
|
T | C | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1045-6935T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027295 | ||||||
chr17:30027368
|
G | A | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1045-6862G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027368 | ||||||
chr17:30027505
|
T | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-6725T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027505 | ||||||
chr17:30028052
|
C | T | 1 | a0004c0004t0002g0015 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1045-6178C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028052 | ||||||
chr17:30028069
|
C | T | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1045-6161C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028069 | ||||||
chr17:30028300
|
C | G | 3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-5930C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028300 | ||||||
chr17:30028430
|
C | T | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1045-5800C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028430 | ||||||
chr17:30028504
|
G | A | 1 | a0011c0022t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1045-5726G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028504 | ||||||
chr17:30028879
|
A | G | 1 | a0001c0001t0001g0184 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1045-5351A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028879 | ||||||
chr17:30029118
|
C | T | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1045-5112C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029118 | ||||||
chr17:30029201
|
C | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1045-5029C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029201 | ||||||
chr17:30029477
|
C | T | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-4753C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029477 | ||||||
chr17:30029561
|
CT | C | 5 | a0001c0001t0001g0185a0001c0001t0001g0197a0002c0002t0002g0013others(2): Show | 5 | HG02132.hp2 HG02559.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1045-4654delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30029561 | |||||
chr17:30029726
|
C | A | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1045-4504C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029726 | ||||||
chr17:30029780
|
C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1045-4450C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029780 | ||||||
chr17:30029786
|
A | G | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-4444A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029786 | ||||||
chr17:30030029
|
G | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1045-4201G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030029 | ||||||
chr17:30030062
|
T | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1045-4168T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030062 | ||||||
chr17:30030179
|
C | T | 1 | a0002c0002t0002g0043 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1045-4051C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030179 | ||||||
chr17:30030293
|
T | C | 2 | a0001c0001t0001g0218a0001c0001t0001g0219 | 2 | HG00642.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1045-3937T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030293 | ||||||
chr17:30030332
|
G | GGTTT | 4 | a0001c0001t0001g0150a0001c0001t0001g0160a0001c0001t0001g0207others(1): Show | 4 | HG02723.hp1 HG03139.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-3877_1045-387 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30030332 | |||||
chr17:30030363
|
G | A | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1045-3867G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030363 | ||||||
chr17:30030622
|
G | A | 3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-3608G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030622 | ||||||
chr17:30030651
|
G | T | 1 | a0003c0003t0002g0133 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1045-3579G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030651 | ||||||
chr17:30030950
|
C | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-3280C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030950 | ||||||
chr17:30031118
|
C | A | 4 | a0004c0004t0002g0097a0004c0004t0002g0098a0004c0004t0002g0104others(1): Show | 4 | HG02895.hp1 HG02896.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-3112C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031118 | ||||||
chr17:30031316
|
C | T | 1 | a0001c0024t0004g0159 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1045-2914C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031316 | ||||||
chr17:30031762
|
CTGTAATT others(5): Show |
C | 9 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0166others(6): Show | 9 | HG00609.hp2 HG02074.hp2 HG03834.hp2 others(6): Show |
intron_variant | MODIFIER | c.1045-2467_1045-245 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031762 | ||||||
chr17:30032001
|
C | T | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1045-2229C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032001 | ||||||
chr17:30032303
|
T | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-1927T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032303 | ||||||
chr17:30032487
|
T | C | 1 | a0002c0002t0002g0103 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1045-1743T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032487 | ||||||
chr17:30032493
|
G | A | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1045-1737G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032493 | ||||||
chr17:30032590
|
T | C | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1045-1640T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032590 | ||||||
chr17:30032701
|
C | T | 2 | a0002c0002t0002g0036a0002c0002t0002g0037 | 2 | HG02647.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1045-1529C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032701 | ||||||
chr17:30032731
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-1499C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032731 | ||||||
chr17:30032798
|
A | G | 1 | a0001c0001t0001g0195 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1045-1432A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032798 | ||||||
chr17:30033058
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-1172C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033058 | ||||||
chr17:30033330
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1045-900G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033330 | ||||||
chr17:30033786
|
C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1045-444C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033786 | ||||||
chr17:30033884
|
A | G | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-346A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033884 | ||||||
chr17:30034568
|
G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1200+183G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034568 | ||||||
chr17:30034651
|
A | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1200+266A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034651 | ||||||
chr17:30034904
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+519T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034904 | ||||||
chr17:30034951
|
C | G | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.1200+566C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034951 | ||||||
chr17:30035465
|
C | T | 10 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(7): Show | 10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1200+1080C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30035465 | ||||||
chr17:30036029
|
T | C | 1 | a0001c0001t0001g0010 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.1200+1644T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036029 | ||||||
chr17:30036042
|
GTATATAT others(22): Show |
G | 6 | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(3): Show | 6 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(3): Show |
intron_variant | MODIFIER | c.1200+1689_1200+171 others(33): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036042 | |||||
chr17:30036257
|
T | TACATATA others(23): Show |
2 | a0003c0003t0002g0132a0003c0003t0002g0139 | 2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1200+1989_1200+201 others(34): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | |||||
chr17:30036257
|
TACATATA others(23): Show |
T | 194 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0108others(191): Show | 195 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
intron_variant | MODIFIER | c.1200+1989_1200+201 others(34): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | |||||
chr17:30036257
|
TACATATA others(53): Show |
T | 35 | a0003c0003t0002g0134a0003c0003t0002g0135a0003c0003t0002g0136others(32): Show | 35 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(32): Show |
intron_variant | MODIFIER | c.1200+1959_1200+201 others(64): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | |||||
chr17:30036410
|
T | TAG | 8 | a0002c0020t0002g0019a0003c0006t0002g0003a0003c0006t0002g0004others(5): Show | 8 | HG02615.hp2 HG02723.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1200+2044_1200+204 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036410 | |||||
chr17:30036558
|
T | C | 2 | a0006c0008t0002g0016a0006c0008t0002g0017 | 2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1200+2173T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036558 | ||||||
chr17:30036624
|
C | T | 103 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(100): Show | 103 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(100): Show |
intron_variant | MODIFIER | c.1200+2239C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036624 | ||||||
chr17:30036986
|
C | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+2601C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036986 | ||||||
chr17:30037016
|
A | T | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1200+2631A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037016 | ||||||
chr17:30037166
|
G | A | 3 | a0001c0001t0001g0147a0001c0001t0001g0173a0001c0001t0001g0209 | 3 | HG00609.hp2 NA19004.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.1200+2781G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037166 | ||||||
chr17:30037438
|
C | T | 124 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(121): Show | 124 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show |
intron_variant | MODIFIER | c.1200+3053C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037438 | ||||||
chr17:30037493
|
G | A | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1200+3108G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037493 | ||||||
chr17:30037660
|
A | G | 1 | a0002c0002t0002g0069 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1200+3275A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037660 | ||||||
chr17:30037748
|
C | T | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1200+3363C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037748 | ||||||
chr17:30037750
|
T | C | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1200+3365T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037750 | ||||||
chr17:30038118
|
C | T | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+3733C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038118 | ||||||
chr17:30038348
|
C | T | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+3963C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038348 | ||||||
chr17:30038540
|
G | A | 2 | a0002c0002t0002g0052a0002c0002t0002g0073 | 2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1200+4155G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038540 | ||||||
chr17:30038632
|
T | C | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1200+4247T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038632 | ||||||
chr17:30038921
|
G | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1200+4536G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038921 | ||||||
chr17:30039114
|
C | T | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1200+4729C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039114 | ||||||
chr17:30039122
|
T | C | 1 | a0001c0001t0001g0203 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1200+4737T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039122 | ||||||
chr17:30039358
|
A | G | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+4973A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039358 | ||||||
chr17:30039640
|
G | A | 2 | a0002c0002t0002g0068a0002c0002t0002g0069 | 2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1200+5255G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039640 | ||||||
chr17:30039703
|
A | G | 5 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113others(2): Show | 5 | HG02630.hp2 HG03139.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1200+5318A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039703 | ||||||
chr17:30039881
|
A | G | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1200+5496A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039881 | ||||||
chr17:30039886
|
A | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1200+5501A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039886 | ||||||
chr17:30039919
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+5534T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039919 | ||||||
chr17:30040154
|
C | T | 1 | a0002c0002t0002g0054 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1200+5769C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040154 | ||||||
chr17:30040276
|
T | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1200+5891T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040276 | ||||||
chr17:30040312
|
C | T | 3 | a0001c0001t0001g0185a0001c0001t0001g0186a0002c0002t0002g0043 | 3 | HG02523.hp1 NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1200+5927C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040312 | ||||||
chr17:30040557
|
A | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1200+6172A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040557 | ||||||
chr17:30040573
|
T | C | 2 | a0002c0002t0002g0049a0002c0002t0002g0056 | 2 | HG02056.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1200+6188T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040573 | ||||||
chr17:30041178
|
G | A | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1200+6793G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30041178 | ||||||
chr17:30041210
|
A | AGAAG | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+6845_1200+684 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(1): Show |
23 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0115others(20): Show | 23 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.1200+6841_1200+684 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(5): Show |
121 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(118): Show | 121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.1200+6837_1200+684 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(9): Show |
9 | a0001c0001t0001g0205a0001c0012t0001g0196a0003c0003t0002g0216others(6): Show | 9 | HG02559.hp2 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.1200+6833_1200+684 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(13): Show |
3 | a0003c0003t0002g0215a0005c0007t0002g0129a0005c0007t0002g0130 | 3 | HG02451.hp1 HG03098.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1200+6829_1200+684 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(17): Show |
2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1200+6848_1200+684 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041210
|
A | AGAAGGAA others(21): Show |
3 | a0005c0007t0002g0131a0008c0011t0002g0020a0008c0011t0002g0021 | 3 | HG01891.hp1 HG02258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1200+6848_1200+684 others(32): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | |||||
chr17:30041878
|
T | G | 1 | a0002c0002t0002g0058 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1200+7493T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30041878 | ||||||
chr17:30042004
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+7619T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042004 | ||||||
chr17:30042530
|
G | T | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1200+8145G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042530 | ||||||
chr17:30042597
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1200+8212A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042597 | ||||||
chr17:30042607
|
G | A | 2 | a0002c0002t0002g0052a0002c0002t0002g0073 | 2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1200+8222G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042607 | ||||||
chr17:30042616
|
A | T | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1200+8231A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042616 | ||||||
chr17:30043015
|
C | T | 1 | a0002c0002t0002g0089 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1201-8103C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043015 | ||||||
chr17:30043024
|
A | C | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1201-8094A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043024 | ||||||
chr17:30043173
|
C | T | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1201-7945C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043173 | ||||||
chr17:30043195
|
A | G | 1 | a0003c0003t0002g0133 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1201-7923A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043195 | ||||||
chr17:30043203
|
T | A | 1 | a0002c0002t0002g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1201-7915T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043203 | ||||||
chr17:30043311
|
T | G | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1201-7807T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043311 | ||||||
chr17:30043733
|
A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1201-7385A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043733 | ||||||
chr17:30044176
|
C | G | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1201-6942C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044176 | ||||||
chr17:30044395
|
T | G | 3 | a0001c0001t0001g0114a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | HG01346.hp2 HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1201-6723T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044395 | ||||||
chr17:30044432
|
G | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1201-6686G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044432 | ||||||
chr17:30044490
|
C | T | 1 | a0003c0003t0002g0138 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1201-6628C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044490 | ||||||
chr17:30044501
|
G | A | 3 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137 | 3 | HG02572.hp2 HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1201-6617G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044501 | ||||||
chr17:30044506
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1201-6612G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044506 | ||||||
chr17:30044570
|
G | A | 3 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231 | 3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.1201-6548G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044570 | ||||||
chr17:30044596
|
T | C | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1201-6522T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044596 | ||||||
chr17:30044864
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-6254C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044864 | ||||||
chr17:30045052
|
G | C | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.1201-6066G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045052 | ||||||
chr17:30045112
|
A | G | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1201-6006A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045112 | ||||||
chr17:30045180
|
G | A | 3 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119 | 3 | HG02622.hp1 HG02809.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1201-5938G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045180 | ||||||
chr17:30045299
|
A | G | 1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1201-5819A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045299 | ||||||
chr17:30045308
|
A | G | 1 | a0002c0002t0002g0058 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1201-5810A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045308 | ||||||
chr17:30045437
|
G | A | 3 | a0002c0002t0002g0038a0002c0002t0002g0068a0002c0002t0002g0069 | 3 | HG00408.hp2 HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1201-5681G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045437 | ||||||
chr17:30045458
|
CA | C | 127 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(124): Show | 127 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.1201-5641delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30045458 | |||||
chr17:30045554
|
A | G | 12 | a0002c0002t0002g0022a0002c0002t0002g0023a0002c0002t0002g0024others(9): Show | 12 | HG00323.hp1 HG01069.hp1 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.1201-5564A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045554 | ||||||
chr17:30045765
|
A | T | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1201-5353A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045765 | ||||||
chr17:30045952
|
G | C | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1201-5166G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045952 | ||||||
chr17:30047094
|
A | G | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1201-4024A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047094 | ||||||
chr17:30047095
|
A | G | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1201-4023A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047095 | ||||||
chr17:30047152
|
T | G | 1 | a0001c0001t0001g0153 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1201-3966T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047152 | ||||||
chr17:30047277
|
T | G | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1201-3841T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047277 | ||||||
chr17:30047296
|
G | A | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1201-3822G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047296 | ||||||
chr17:30047788
|
A | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1201-3330A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047788 | ||||||
chr17:30047867
|
C | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-3251C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047867 | ||||||
chr17:30048277
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1201-2841T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048277 | ||||||
chr17:30048344
|
T | TAA | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1201-2764_1201-276 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048344 | |||||
chr17:30048352
|
A | AT | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-2766_1201-276 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048352 | ||||||
chr17:30048377
|
C | CA | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-2735dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048377 | |||||
chr17:30048491
|
C | CT | 7 | a0001c0001t0001g0152a0001c0001t0001g0184a0001c0001t0001g0209others(4): Show | 7 | HG00140.hp2 HG01255.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1201-2613dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048491 | |||||
chr17:30048493
|
T | C | 1 | a0002c0002t0002g0082 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1201-2625T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048493 | ||||||
chr17:30049119
|
C | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-1999C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049119 | ||||||
chr17:30049373
|
C | T | 1 | a0002c0002t0002g0081 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.1201-1745C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049373 | ||||||
chr17:30049374
|
G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1201-1744G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049374 | ||||||
chr17:30049845
|
C | T | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1201-1273C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049845 | ||||||
chr17:30050259
|
C | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1201-859C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050259 | ||||||
chr17:30050284
|
A | C | 1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1201-834A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050284 | ||||||
chr17:30050414
|
C | T | 1 | a0011c0022t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1201-704C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050414 | ||||||
chr17:30050522
|
G | A | 2 | a0001c0001t0001g0240a0001c0001t0001g0241 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1201-596G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050522 | ||||||
chr17:30050644
|
G | A | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1201-474G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050644 | ||||||
chr17:30050811
|
T | C | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-307T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050811 | ||||||
chr17:30050963
|
A | G | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-155A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050963 | ||||||
chr17:30051226
|
C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1300+9C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051226 | ||||||
chr17:30051237
|
A | C | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1300+20A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051237 | ||||||
chr17:30051258
|
C | T | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1300+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051258 | ||||||
chr17:30051475
|
A | T | 8 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0234others(5): Show | 8 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(5): Show |
intron_variant | MODIFIER | c.1300+258A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051475 | ||||||
chr17:30051816
|
G | A | 1 | a0002c0002t0002g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1300+599G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051816 | ||||||
chr17:30052228
|
G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1300+1011G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052228 | ||||||
chr17:30052272
|
C | T | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1301-983C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052272 | ||||||
chr17:30052494
|
G | A | 34 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(31): Show | 34 | HG00140.hp1 HG00609.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1301-761G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052494 | ||||||
chr17:30052733
|
C | T | 2 | a0001c0001t0001g0153a0001c0001t0001g0154 | 2 | HG02717.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1301-522C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052733 | ||||||
chr17:30052989
|
C | T | 4 | a0001c0001t0001g0148a0001c0001t0001g0174a0001c0001t0001g0176others(1): Show | 4 | HG01891.hp2 HG01934.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1301-266C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052989 | ||||||
chr17:30053249
|
C | T | 1 | a0002c0002t0002g0055 | 1 | NA18955.hp2 | splice_region_variant&intron_variant | LOW | c.1301-6C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30053249 | ||||||
chr17:30054852
|
C | T | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2194+704C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054852 | ||||||
chr17:30054942
|
T | C | 1 | a0011c0022t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2194+794T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054942 | ||||||
chr17:30054999
|
A | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2194+851A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054999 | ||||||
chr17:30055068
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2195-820C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055068 | ||||||
chr17:30055119
|
G | A | 1 | a0002c0002t0002g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2195-769G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055119 | ||||||
chr17:30055123
|
C | T | 3 | a0002c0002t0002g0054a0002c0002t0002g0063a0003c0014t0002g0006 | 3 | HG00609.hp1 HG03486.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.2195-765C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055123 | ||||||
chr17:30055131
|
C | CA | 6 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2195-746dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055131 | |||||
chr17:30055159
|
G | C | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2195-729G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055159 | ||||||
chr17:30055322
|
G | GAGGA | 33 | a0001c0001t0001g0109a0001c0001t0001g0124a0001c0001t0001g0125others(30): Show | 33 | HG00280.hp1 HG00609.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.2195-506_2195-503d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
G | GAGGAAGG others(1): Show |
14 | a0001c0001t0001g0114a0001c0001t0001g0117a0001c0001t0001g0123others(11): Show | 14 | HG01346.hp2 HG02055.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2195-510_2195-503d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
G | GAGGAAGG others(5): Show |
3 | a0001c0001t0001g0127a0003c0006t0002g0003a0003c0006t0002g0005 | 3 | HG01109.hp1 HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2195-514_2195-503d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
GAGGA | G | 70 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(67): Show | 70 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.2195-506_2195-503d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
GAGGAAGG others(1): Show |
G | 46 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0120others(43): Show | 46 | HG00140.hp1 HG00408.hp2 HG00609.hp2 others(43): Show |
intron_variant | MODIFIER | c.2195-510_2195-503d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
GAGGAAGG others(5): Show |
G | 6 | a0001c0001t0001g0224a0001c0001t0001g0242a0001c0001t0001g0246others(3): Show | 6 | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.2195-514_2195-503d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055322
|
GAGGAAGG others(9): Show |
G | 2 | a0003c0003t0002g0139a0014c0021t0002g0012 | 2 | HG02486.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2195-518_2195-503d others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | |||||
chr17:30055401
|
G | C | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2195-487G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055401 | ||||||
chr17:30055497
|
C | G | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2195-391C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055497 | ||||||
chr17:30055661
|
T | C | 2 | a0004c0004t0002g0015a0004c0004t0002g0099 | 2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2195-227T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055661 | ||||||
chr17:30055686
|
C | T | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2195-202C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055686 | ||||||
chr17:30055710
|
C | T | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2195-178C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055710 | ||||||
chr17:30055997
|
T | C | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2272+32T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30055997 | ||||||
chr17:30056005
|
A | C | 6 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0142others(3): Show | 6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.2272+40A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30056005 | ||||||
chr17:30056038
|
C | T | 1 | a0003c0006t0002g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2273-26C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30056038 | ||||||
chr17:30056298
|
G | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2365+142G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056298 | ||||||
chr17:30056691
|
A | G | 22 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(19): Show | 22 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.2365+535A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056691 | ||||||
chr17:30056797
|
T | G | 1 | a0001c0001t0001g0174 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2365+641T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056797 | ||||||
chr17:30056882
|
T | C | 28 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(25): Show | 28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.2365+726T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056882 | ||||||
chr17:30056940
|
TA | T | 6 | a0002c0002t0002g0002a0002c0002t0002g0080a0002c0002t0002g0081others(3): Show | 6 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.2366-734delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr17 | 30056940 | |||||
chr17:30057130
|
T | C | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2366-546T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30057130 | ||||||
chr17:30058413
|
A | G | 38 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(35): Show | 38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.2580+523A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30058413 | ||||||
chr17:30058826
|
G | C | 1 | a0001c0001t0001g0219 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2581-719G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30058826 | ||||||
chr17:30058986
|
G | GA | 22 | a0001c0001t0001g0155a0001c0001t0001g0204a0002c0002t0002g0059others(19): Show | 22 | HG00099.hp2 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.2581-545dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30058986 | |||||
chr17:30058986
|
G | GAA | 21 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(18): Show | 21 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(18): Show |
intron_variant | MODIFIER | c.2581-546_2581-545d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30058986 | |||||
chr17:30059109
|
G | A | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2581-436G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059109 | ||||||
chr17:30059117
|
G | A | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2581-428G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059117 | ||||||
chr17:30059163
|
G | GTTTTGT | 4 | a0003c0003t0002g0140a0003c0003t0002g0141a0003c0003t0002g0143others(1): Show | 4 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.2581-362_2581-357d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30059163 | |||||
chr17:30059262
|
T | A | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.2581-283T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059262 | ||||||
chr17:30059265
|
T | A | 6 | a0001c0001t0001g0227a0001c0001t0001g0232a0001c0001t0001g0243others(3): Show | 6 | HG01891.hp1 HG02451.hp2 NA18961.hp2 others(3): Show |
intron_variant | MODIFIER | c.2581-280T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059265 | ||||||
chr17:30059266
|
T | A | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2581-279T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059266 | ||||||
chr17:30059267
|
A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2581-278A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059267 | ||||||
chr17:30059337
|
C | T | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2581-208C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059337 | ||||||
chr17:30059508
|
A | G | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.2581-37A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059508 | ||||||
chr17:30060146
|
G | A | 1 | a0002c0002t0002g0032 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2737+445G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060146 | ||||||
chr17:30060226
|
A | T | 6 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2737+525A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060226 | ||||||
chr17:30060237
|
T | TA | 50 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(47): Show | 50 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.2737+544dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30060237 | |||||
chr17:30060300
|
A | T | 1 | a0002c0002t0002g0072 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2737+599A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060300 | ||||||
chr17:30060415
|
A | G | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2737+714A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060415 | ||||||
chr17:30060448
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2737+747T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060448 | ||||||
chr17:30060627
|
T | C | 9 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0119others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.2737+926T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060627 | ||||||
chr17:30060655
|
G | C | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2737+954G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060655 | ||||||
chr17:30060952
|
G | A | 1 | a0002c0019t0002g0040 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2737+1251G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060952 | ||||||
chr17:30061238
|
C | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+1537C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061238 | ||||||
chr17:30061338
|
G | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2737+1637G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061338 | ||||||
chr17:30061469
|
T | A | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.2737+1768T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061469 | ||||||
chr17:30061477
|
A | G | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+1776A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061477 | ||||||
chr17:30061919
|
C | T | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2737+2218C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061919 | ||||||
chr17:30062085
|
A | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.2737+2384A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062085 | ||||||
chr17:30062104
|
A | G | 1 | a0001c0001t0001g0191 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2737+2403A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062104 | ||||||
chr17:30062286
|
C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2737+2585C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062286 | ||||||
chr17:30062558
|
G | A | 50 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(47): Show | 50 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.2737+2857G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062558 | ||||||
chr17:30062869
|
A | G | 2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2737+3168A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062869 | ||||||
chr17:30062922
|
G | T | 3 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137 | 3 | HG02572.hp2 HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2737+3221G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062922 | ||||||
chr17:30062931
|
G | T | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2737+3230G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062931 | ||||||
chr17:30063119
|
C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2737+3418C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063119 | ||||||
chr17:30063714
|
C | G | 2 | a0001c0001t0001g0210a0001c0001t0001g0233 | 2 | NA18951.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.2737+4013C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063714 | ||||||
chr17:30063843
|
G | A | 3 | a0001c0001t0001g0155a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | HG02622.hp2 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2737+4142G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063843 | ||||||
chr17:30063944
|
C | T | 2 | a0002c0002t0002g0013a0002c0016t0002g0014 | 2 | NA18964.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.2737+4243C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063944 | ||||||
chr17:30064058
|
A | G | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2737+4357A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064058 | ||||||
chr17:30064219
|
T | A | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2737+4518T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064219 | ||||||
chr17:30064228
|
T | C | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.2737+4527T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064228 | ||||||
chr17:30064252
|
T | C | 240 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(237): Show | 241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.2737+4551T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064252 | ||||||
chr17:30064273
|
A | G | 1 | a0002c0002t0002g0061 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2737+4572A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064273 | ||||||
chr17:30064275
|
A | G | 35 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(32): Show | 35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.2737+4574A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064275 | ||||||
chr17:30064650
|
G | A | 2 | a0003c0003t0002g0135a0003c0003t0002g0136 | 2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2737+4949G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064650 | ||||||
chr17:30065045
|
G | A | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+5344G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065045 | ||||||
chr17:30065100
|
T | C | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2737+5399T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065100 | ||||||
chr17:30065390
|
G | A | 1 | a0002c0002t0002g0058 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2737+5689G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065390 | ||||||
chr17:30065437
|
C | T | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2737+5736C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065437 | ||||||
chr17:30065686
|
A | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+5985A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065686 | ||||||
chr17:30065749
|
G | A | 1 | a0001c0001t0001g0168 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2737+6048G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065749 | ||||||
chr17:30065928
|
G | A | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2737+6227G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065928 | ||||||
chr17:30065934
|
G | A | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2737+6233G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065934 | ||||||
chr17:30065938
|
T | C | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6237T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065938 | ||||||
chr17:30065939
|
C | CAA | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6238_2737+623 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065939 | ||||||
chr17:30065940
|
T | C | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6239T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065940 | ||||||
chr17:30065941
|
G | A | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6240G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065941 | ||||||
chr17:30066258
|
T | C | 1 | a0002c0002t0002g0080 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2737+6557T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066258 | ||||||
chr17:30066386
|
T | A | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2737+6685T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066386 | ||||||
chr17:30066410
|
A | T | 4 | a0003c0003t0002g0135a0003c0003t0002g0136a0003c0003t0002g0137others(1): Show | 4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+6709A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066410 | ||||||
chr17:30066781
|
C | G | 65 | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(62): Show | 66 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.2737+7080C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066781 | ||||||
chr17:30066798
|
C | G | 1 | a0002c0002t0002g0050 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2737+7097C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066798 | ||||||
chr17:30066910
|
C | A | 3 | a0001c0001t0001g0150a0001c0001t0001g0160a0001c0001t0001g0207 | 3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2737+7209C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066910 | ||||||
chr17:30067096
|
T | G | 1 | a0001c0001t0001g0167 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2737+7395T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067096 | ||||||
chr17:30067181
|
A | G | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2737+7480A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067181 | ||||||
chr17:30067254
|
T | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2737+7553T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067254 | ||||||
chr17:30067357
|
C | G | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2737+7656C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067357 | ||||||
chr17:30067376
|
G | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+7675G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067376 | ||||||
chr17:30067483
|
A | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2737+7782A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067483 | ||||||
chr17:30067517
|
C | G | 6 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0146others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2737+7816C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067517 | ||||||
chr17:30067603
|
G | A | 1 | a0002c0002t0002g0027 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2737+7902G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067603 | ||||||
chr17:30067729
|
A | G | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2737+8028A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067729 | ||||||
chr17:30067849
|
G | A | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2737+8148G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067849 | ||||||
chr17:30067855
|
G | A | 4 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005others(1): Show | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+8154G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067855 | ||||||
chr17:30068033
|
C | A | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.2737+8332C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068033 | ||||||
chr17:30068043
|
C | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2737+8342C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068043 | ||||||
chr17:30068065
|
G | A | 2 | a0006c0008t0002g0016a0006c0008t0002g0017 | 2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2737+8364G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068065 | ||||||
chr17:30068295
|
C | G | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2737+8594C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068295 | ||||||
chr17:30068309
|
GA | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2737+8620delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30068309 | |||||
chr17:30068502
|
C | T | 2 | a0003c0003t0002g0140a0003c0003t0002g0141 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2737+8801C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068502 | ||||||
chr17:30068719
|
G | A | 1 | a0001c0001t0001g0189 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.2737+9018G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068719 | ||||||
chr17:30069124
|
A | G | 2 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | HG01256.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2738-9091A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069124 | ||||||
chr17:30069151
|
G | A | 2 | a0001c0001t0001g0156a0001c0001t0001g0193 | 2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2738-9064G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069151 | ||||||
chr17:30069354
|
T | C | 2 | a0001c0001t0001g0235a0001c0001t0001g0238 | 2 | NA18964.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.2738-8861T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069354 | ||||||
chr17:30069703
|
G | C | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.2738-8512G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069703 | ||||||
chr17:30069705
|
C | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-8510C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069705 | ||||||
chr17:30069791
|
C | T | 3 | a0008c0011t0002g0020a0008c0011t0002g0021a0014c0021t0002g0012 | 3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2738-8424C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069791 | ||||||
chr17:30069844
|
G | A | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2738-8371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069844 | ||||||
chr17:30069971
|
G | T | 1 | a0001c0024t0004g0159 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2738-8244G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069971 | ||||||
chr17:30070171
|
T | C | 2 | a0001c0001t0001g0010a0001c0001t0001g0166 | 2 | NA18940.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.2738-8044T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070171 | ||||||
chr17:30070346
|
C | A | 17 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(14): Show | 17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.2738-7869C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070346 | ||||||
chr17:30070580
|
T | C | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.2738-7635T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070580 | ||||||
chr17:30070758
|
T | C | 32 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0135others(29): Show | 32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2738-7457T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070758 | ||||||
chr17:30070889
|
G | A | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.2738-7326G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070889 | ||||||
chr17:30070949
|
C | CA | 16 | a0002c0002t0002g0026a0002c0002t0002g0038a0002c0002t0002g0045others(13): Show | 16 | HG00408.hp2 HG00621.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.2738-7237dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CA | C | 16 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0110others(13): Show | 16 | HG00323.hp1 HG00639.hp2 HG01496.hp2 others(13): Show |
intron_variant | MODIFIER | c.2738-7237delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAA | C | 27 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0114others(24): Show | 27 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(24): Show |
intron_variant | MODIFIER | c.2738-7238_2738-723 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAAA | C | 92 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.2738-7239_2738-723 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAAAA | C | 20 | a0001c0001t0001g0167a0001c0001t0001g0185a0003c0003t0002g0133others(17): Show | 20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.2738-7240_2738-723 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAAAAAAA others(3): Show |
C | 2 | a0001c0001t0001g0010a0001c0001t0001g0166 | 2 | NA18940.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.2738-7246_2738-723 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAAAAAAA others(4): Show |
C | 2 | a0003c0006t0002g0003a0003c0006t0002g0005 | 2 | HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2738-7247_2738-723 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30070949
|
CAAAAAAA others(5): Show |
C | 1 | a0003c0006t0002g0004 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2738-7248_2738-723 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | |||||
chr17:30071120
|
G | A | 1 | a0008c0011t0002g0021 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2738-7095G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071120 | ||||||
chr17:30071256
|
T | G | 1 | a0001c0012t0001g0187 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2738-6959T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071256 | ||||||
chr17:30071290
|
T | TTATGTAG others(1212): Show |
1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1213): Show |
1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1212): Show |
1 | a0001c0001t0001g0183 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1213): Show |
1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1206): Show |
1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1217): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1205): Show |
3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1216): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1206): Show |
4 | a0001c0001t0001g0156a0001c0001t0001g0185a0001c0001t0001g0193others(1): Show | 4 | HG02735.hp2 HG04204.hp2 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1217): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1207): Show |
43 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(40): Show | 43 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(40): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1218): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1208): Show |
1 | a0001c0001t0001g0152 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1219): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1210): Show |
3 | a0001c0001t0001g0148a0001c0001t0001g0176a0001c0001t0001g0177 | 3 | HG01891.hp2 HG01934.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1221): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1211): Show |
1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1222): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1212): Show |
14 | a0001c0001t0001g0116a0001c0001t0001g0120a0001c0001t0001g0150others(11): Show | 14 | HG00408.hp1 HG02630.hp2 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1213): Show |
35 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(32): Show | 35 | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1214): Show |
9 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0112others(6): Show | 9 | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1225): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1215): Show |
2 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1226): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1213): Show |
1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071290
|
T | TTATGTAG others(1207): Show |
1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1218): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | ||||||
chr17:30071292
|
G | A | 116 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(113): Show | 116 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(113): Show |
intron_variant | MODIFIER | c.2738-6923G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071292 | ||||||
chr17:30071293
|
C | A | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.2738-6922C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071293 | ||||||
chr17:30071294
|
C | A | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.2738-6921C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071294 | ||||||
chr17:30071403
|
G | A | 1 | a0005c0007t0002g0130 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2738-6812G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071403 | ||||||
chr17:30071574
|
A | G | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2738-6641A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071574 | ||||||
chr17:30071628
|
T | C | 25 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113others(22): Show | 25 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.2738-6587T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071628 | ||||||
chr17:30071959
|
A | G | 166 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(163): Show | 166 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.2738-6256A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071959 | ||||||
chr17:30072493
|
G | C | 34 | a0002c0017t0002g0035a0003c0003t0002g0132a0003c0003t0002g0133others(31): Show | 34 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.2738-5722G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30072493 | ||||||
chr17:30072628
|
A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-5587A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30072628 | ||||||
chr17:30073136
|
G | A | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2738-5079G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073136 | ||||||
chr17:30073308
|
C | T | 30 | a0002c0017t0002g0035a0003c0003t0002g0132a0003c0003t0002g0133others(27): Show | 30 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.2738-4907C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073308 | ||||||
chr17:30073390
|
C | A | 2 | a0002c0002t0002g0052a0002c0002t0002g0073 | 2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.2738-4825C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073390 | ||||||
chr17:30073489
|
T | C | 5 | a0002c0017t0002g0035a0003c0003t0002g0135a0003c0003t0002g0136others(2): Show | 5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2738-4726T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073489 | ||||||
chr17:30073498
|
C | A | 159 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(156): Show | 159 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show |
intron_variant | MODIFIER | c.2738-4717C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073498 | ||||||
chr17:30073530
|
G | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4685G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073530 | ||||||
chr17:30073531
|
G | A | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4684G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073531 | ||||||
chr17:30073533
|
C | A | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4682C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073533 | ||||||
chr17:30073544
|
A | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4671A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073544 | ||||||
chr17:30073546
|
A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4669A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073546 | ||||||
chr17:30073547
|
T | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4668T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073547 | ||||||
chr17:30073549
|
A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4666A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073549 | ||||||
chr17:30073957
|
G | A | 2 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.2738-4258G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073957 | ||||||
chr17:30073975
|
A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-4240A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073975 | ||||||
chr17:30074138
|
A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4077A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074138 | ||||||
chr17:30074653
|
T | C | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2738-3562T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074653 | ||||||
chr17:30074722
|
A | G | 125 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.2738-3493A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074722 | ||||||
chr17:30074869
|
T | G | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2738-3346T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074869 | ||||||
chr17:30074902
|
C | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2738-3313C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074902 | ||||||
chr17:30075204
|
A | T | 1 | a0001c0001t0001g0226 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2738-3011A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075204 | ||||||
chr17:30075582
|
C | G | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-2633C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075582 | ||||||
chr17:30075605
|
C | T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-2610C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075605 | ||||||
chr17:30075616
|
T | C | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-2599T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075616 | ||||||
chr17:30075719
|
C | T | 125 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.2738-2496C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075719 | ||||||
chr17:30075736
|
C | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2738-2479C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075736 | ||||||
chr17:30075920
|
G | A | 1 | a0001c0001t0001g0174 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2738-2295G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075920 | ||||||
chr17:30076054
|
C | T | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2738-2161C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076054 | ||||||
chr17:30076094
|
T | C | 125 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.2738-2121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076094 | ||||||
chr17:30076119
|
T | TCCTTTCT others(11): Show |
2 | a0001c0001t0001g0240a0001c0001t0001g0241 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2738-2096_2738-209 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076119 | ||||||
chr17:30076292
|
T | TACTAAAC others(5): Show |
1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2738-1919_2738-190 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30076292 | |||||
chr17:30076330
|
A | G | 166 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(163): Show | 166 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(163): Show |
intron_variant | MODIFIER | c.2738-1885A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076330 | ||||||
chr17:30076579
|
T | C | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-1636T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076579 | ||||||
chr17:30077067
|
T | G | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2738-1148T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077067 | ||||||
chr17:30077335
|
C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-880C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077335 | ||||||
chr17:30077562
|
G | T | 5 | a0002c0017t0002g0035a0003c0003t0002g0135a0003c0003t0002g0136others(2): Show | 5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2738-653G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077562 | ||||||
chr17:30077689
|
C | T | 34 | a0002c0017t0002g0035a0003c0003t0002g0132a0003c0003t0002g0133others(31): Show | 34 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.2738-526C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077689 | ||||||
chr17:30078043
|
T | C | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-172T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30078043 | ||||||
chr17:30078071
|
G | T | 4 | a0002c0020t0002g0019a0006c0008t0002g0016a0006c0008t0002g0017others(1): Show | 4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-144G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30078071 | ||||||
chr17:30078524
|
A | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3027+20A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078524 | ||||||
chr17:30078625
|
T | C | 2 | a0002c0002t0002g0031a0002c0002t0002g0050 | 2 | HG01496.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.3027+121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078625 | ||||||
chr17:30078719
|
G | GGTAGAAA others(8): Show |
2 | a0001c0001t0001g0010a0001c0001t0001g0208 | 2 | NA19001.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.3027+226_3027+240d others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr17 | 30078719 | |||||
chr17:30078734
|
T | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3027+230T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078734 | ||||||
chr17:30078743
|
G | T | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3027+239G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078743 | ||||||
chr17:30078807
|
C | A | 1 | a0001c0001t0001g0225 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3027+303C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078807 | ||||||
chr17:30078825
|
A | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.3027+321A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078825 | ||||||
chr17:30078846
|
T | C | 1 | a0002c0002t0002g0103 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3027+342T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078846 | ||||||
chr17:30079000
|
C | T | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.3027+496C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079000 | ||||||
chr17:30079090
|
C | T | 159 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(156): Show | 159 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show |
intron_variant | MODIFIER | c.3027+586C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079090 | ||||||
chr17:30079244
|
A | G | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3027+740A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079244 | ||||||
chr17:30079530
|
C | T | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3028-542C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079530 | ||||||
chr17:30079603
|
T | C | 3 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0139 | 3 | HG01433.hp1 HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3028-469T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079603 | ||||||
chr17:30079619
|
A | T | 19 | a0002c0017t0002g0035a0003c0003t0002g0132a0003c0003t0002g0133others(16): Show | 19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.3028-453A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079619 | ||||||
chr17:30079642
|
T | C | 4 | a0002c0005t0002g0025a0002c0005t0002g0039a0002c0005t0002g0060others(1): Show | 4 | HG02132.hp1 HG02698.hp2 NA18963.hp2 others(1): Show |
intron_variant | MODIFIER | c.3028-430T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079642 | ||||||
chr17:30079873
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3028-199T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079873 | ||||||
chr17:30080269
|
C | T | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.3197+28C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080269 | ||||||
chr17:30080550
|
GT | G | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 128 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.3198-189delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | 30080550 | |||||
chr17:30080561
|
T | G | 156 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(153): Show | 156 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.3198-192T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080561 | ||||||
chr17:30080566
|
T | C | 4 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(1): Show | 4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3198-187T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080566 | ||||||
chr17:30080645
|
T | TCATATAA | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3198-107_3198-101d others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | 30080645 | |||||
chr17:30081052
|
C | T | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.3426+71C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081052 | ||||||
chr17:30081061
|
C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3426+80C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081061 | ||||||
chr17:30081199
|
C | T | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.3426+218C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081199 | ||||||
chr17:30081212
|
T | C | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3426+231T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081212 | ||||||
chr17:30081310
|
G | A | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3426+329G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081310 | ||||||
chr17:30081372
|
A | T | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3426+391A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081372 | ||||||
chr17:30081499
|
G | A | 4 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(1): Show | 4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3426+518G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081499 | ||||||
chr17:30081676
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.3426+695G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081676 | ||||||
chr17:30081839
|
A | T | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3426+858A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081839 | ||||||
chr17:30081949
|
C | T | 10 | a0003c0013t0002g0217a0004c0004t0002g0015a0004c0004t0002g0097others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.3427-942C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081949 | ||||||
chr17:30082246
|
T | C | 122 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.3427-645T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082246 | ||||||
chr17:30082390
|
C | CT | 125 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.3427-479dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | |||||
chr17:30082390
|
C | CTT | 11 | a0001c0001t0001g0157a0001c0001t0001g0180a0001c0001t0001g0203others(8): Show | 11 | HG01243.hp2 HG01496.hp1 HG01516.hp1 others(8): Show |
intron_variant | MODIFIER | c.3427-480_3427-479d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | |||||
chr17:30082390
|
CT | C | 9 | a0002c0002t0002g0023a0002c0002t0002g0036a0002c0020t0002g0019others(6): Show | 9 | HG02615.hp2 HG02630.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.3427-479delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | |||||
chr17:30082451
|
T | C | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3427-440T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082451 | ||||||
chr17:30082586
|
T | C | 1 | a0002c0002t0002g0050 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.3427-305T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082586 | ||||||
chr17:30082629
|
G | A | 2 | a0001c0001t0001g0218a0001c0001t0001g0219 | 2 | HG00642.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.3427-262G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082629 | ||||||
chr17:30082809
|
G | A | 3 | a0001c0001t0001g0152a0001c0001t0001g0189a0001c0001t0001g0191 | 3 | HG00140.hp2 HG00733.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3427-82G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082809 | ||||||
chr17:30083084
|
C | T | 2 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.3579+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083084 | ||||||
chr17:30083096
|
T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3579+53T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083096 | ||||||
chr17:30083106
|
T | C | 119 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(116): Show | 119 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(116): Show |
intron_variant | MODIFIER | c.3579+63T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083106 | ||||||
chr17:30083258
|
C | T | 7 | a0001c0001t0001g0179a0001c0001t0001g0234a0001c0001t0001g0235others(4): Show | 7 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(4): Show |
intron_variant | MODIFIER | c.3579+215C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083258 | ||||||
chr17:30083259
|
A | G | 94 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(91): Show | 94 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.3579+216A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083259 | ||||||
chr17:30083306
|
G | A | 94 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(91): Show | 94 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.3579+263G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083306 | ||||||
chr17:30083364
|
T | C | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3579+321T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083364 | ||||||
chr17:30083477
|
G | A | 1 | a0003c0003t0002g0134 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3579+434G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083477 | ||||||
chr17:30083547
|
C | G | 2 | a0003c0003t0002g0215a0003c0003t0002g0216 | 2 | HG02965.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3579+504C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083547 | ||||||
chr17:30083645
|
G | A | 4 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(1): Show | 4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3579+602G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083645 | ||||||
chr17:30083867
|
G | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3579+824G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083867 | ||||||
chr17:30084346
|
G | A | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3579+1303G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084346 | ||||||
chr17:30084638
|
C | G | 1 | a0007c0009t0002g0102 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3579+1595C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084638 | ||||||
chr17:30084706
|
TTCTC | T | 3 | a0001c0001t0001g0170a0001c0001t0001g0175a0001c0001t0001g0180 | 3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.3579+1669_3579+167 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30084706 | |||||
chr17:30084984
|
G | A | 8 | a0002c0002t0002g0042a0002c0002t0002g0043a0002c0002t0002g0044others(5): Show | 8 | HG00621.hp1 HG02523.hp1 NA18940.hp1 others(5): Show |
intron_variant | MODIFIER | c.3579+1941G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084984 | ||||||
chr17:30085096
|
C | T | 5 | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0001g0155others(2): Show | 5 | HG02622.hp2 HG02717.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3580-1967C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085096 | ||||||
chr17:30085125
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3580-1938T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085125 | ||||||
chr17:30085197
|
G | C | 4 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(1): Show | 4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3580-1866G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085197 | ||||||
chr17:30085229
|
A | G | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3580-1834A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085229 | ||||||
chr17:30085441
|
T | C | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3580-1622T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085441 | ||||||
chr17:30085516
|
C | T | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3580-1547C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085516 | ||||||
chr17:30085565
|
A | G | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1498A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085565 | ||||||
chr17:30085581
|
C | T | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1482C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085581 | ||||||
chr17:30085583
|
C | T | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1480C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085583 | ||||||
chr17:30085585
|
G | A | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1478G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085585 | ||||||
chr17:30085594
|
G | A | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1469G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085594 | ||||||
chr17:30085605
|
C | T | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1458C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085605 | ||||||
chr17:30085607
|
T | A | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1456T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085607 | ||||||
chr17:30085610
|
T | C | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1453T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085610 | ||||||
chr17:30085611
|
G | A | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1452G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085611 | ||||||
chr17:30085669
|
G | A | 87 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(84): Show | 87 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.3580-1394G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085669 | ||||||
chr17:30085719
|
CA | C | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0011others(79): Show | 83 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.3580-1325delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30085719 | |||||
chr17:30085719
|
CAA | C | 153 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0108others(150): Show | 153 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.3580-1326_3580-132 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30085719 | |||||
chr17:30085730
|
A | G | 87 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(84): Show | 87 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.3580-1333A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085730 | ||||||
chr17:30086106
|
C | T | 2 | a0006c0008t0002g0016a0006c0008t0002g0017 | 2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3580-957C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086106 | ||||||
chr17:30086111
|
T | C | 49 | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0162others(46): Show | 49 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.3580-952T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086111 | ||||||
chr17:30086149
|
A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3580-914A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086149 | ||||||
chr17:30086275
|
C | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3580-788C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086275 | ||||||
chr17:30086543
|
C | T | 3 | a0001c0001t0001g0150a0001c0001t0001g0160a0001c0001t0001g0207 | 3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3580-520C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086543 | ||||||
chr17:30086591
|
C | CA | 91 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(88): Show | 91 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(88): Show |
intron_variant | MODIFIER | c.3580-461dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30086591 | |||||
chr17:30086626
|
C | T | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3580-437C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086626 | ||||||
chr17:30086688
|
T | C | 1 | a0002c0002t0002g0045 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.3580-375T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086688 | ||||||
chr17:30086890
|
C | G | 1 | a0003c0003t0002g0132 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3580-173C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086890 | ||||||
chr17:30086893
|
G | GA | 37 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(34): Show | 37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.3580-159dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30086893 | |||||
chr17:30086920
|
A | G | 37 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(34): Show | 37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.3580-143A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086920 | ||||||
chr17:30087343
|
T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3683+177T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087343 | ||||||
chr17:30087515
|
C | T | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087515 | ||||||
chr17:30087592
|
C | A | 5 | a0002c0017t0002g0035a0003c0003t0002g0135a0003c0003t0002g0136others(2): Show | 5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3683+426C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087592 | ||||||
chr17:30087841
|
A | T | 158 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0108others(155): Show | 158 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
intron_variant | MODIFIER | c.3683+675A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087841 | ||||||
chr17:30087922
|
C | T | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+756C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087922 | ||||||
chr17:30088237
|
C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3683+1071C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088237 | ||||||
chr17:30088304
|
A | T | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+1138A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088304 | ||||||
chr17:30088540
|
A | G | 1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3683+1374A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088540 | ||||||
chr17:30088596
|
C | T | 12 | a0001c0001t0001g0197a0002c0017t0002g0035a0003c0003t0002g0135others(9): Show | 12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.3683+1430C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088596 | ||||||
chr17:30088729
|
C | T | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.3683+1563C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088729 | ||||||
chr17:30089019
|
C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3684-1402C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089019 | ||||||
chr17:30089103
|
A | T | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3684-1318A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089103 | ||||||
chr17:30089130
|
C | T | 4 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018others(1): Show | 4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.3684-1291C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089130 | ||||||
chr17:30089776
|
C | T | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3684-645C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089776 | ||||||
chr17:30089815
|
C | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3684-606C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089815 | ||||||
chr17:30089889
|
C | T | 3 | a0001c0001t0001g0227a0001c0001t0001g0243a0001c0001t0001g0246 | 3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.3684-532C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089889 | ||||||
chr17:30089972
|
T | C | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3684-449T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089972 | ||||||
chr17:30089976
|
C | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113 | 3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3684-445C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089976 | ||||||
chr17:30090011
|
C | G | 45 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(42): Show | 45 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.3684-410C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090011 | ||||||
chr17:30090314
|
A | G | 1 | a0001c0001t0001g0228 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3684-107A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090314 | ||||||
chr17:30090358
|
T | C | 156 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0108others(153): Show | 156 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.3684-63T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090358 | ||||||
chr17:30090753
|
G | A | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3937+79G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090753 | ||||||
chr17:30090782
|
A | G | 1 | a0001c0001t0001g0164 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.3937+108A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090782 | ||||||
chr17:30090794
|
A | C | 1 | a0001c0001t0001g0239 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3937+120A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090794 | ||||||
chr17:30090824
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3937+150C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090824 | ||||||
chr17:30090864
|
G | A | 1 | a0003c0003t0002g0132 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3937+190G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090864 | ||||||
chr17:30091023
|
C | T | 156 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0108others(153): Show | 156 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
intron_variant | MODIFIER | c.3937+349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091023 | ||||||
chr17:30091152
|
G | A | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3937+478G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091152 | ||||||
chr17:30091208
|
A | G | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3937+534A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091208 | ||||||
chr17:30091516
|
A | G | 3 | a0007c0009t0002g0100a0007c0009t0002g0101a0007c0009t0002g0102 | 3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3938-355A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091516 | ||||||
chr17:30091679
|
C | T | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3938-192C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091679 | ||||||
chr17:30091747
|
C | A | 67 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(64): Show | 67 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.3938-124C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091747 | ||||||
chr17:30091750
|
T | C | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3938-121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091750 | ||||||
chr17:30092171
|
T | A | 5 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(2): Show | 5 | HG01952.hp2 HG02273.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.4224+14T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092171 | ||||||
chr17:30092198
|
C | T | 1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4224+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092198 | ||||||
chr17:30092410
|
G | A | 88 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0148others(85): Show | 88 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(85): Show |
intron_variant | MODIFIER | c.4224+253G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092410 | ||||||
chr17:30092545
|
G | A | 1 | a0002c0002t0002g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.4225-295G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092545 | ||||||
chr17:30092668
|
C | T | 37 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(34): Show | 37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.4225-172C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092668 | ||||||
chr17:30092686
|
G | A | 2 | a0003c0003t0002g0213a0003c0003t0002g0214 | 2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.4225-154G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092686 | ||||||
chr17:30092826
|
T | C | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4225-14T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092826 | ||||||
chr17:30093569
|
T | A | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+633T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30093569 | ||||||
chr17:30094225
|
G | C | 1 | a0002c0002t0002g0049 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.4321+1289G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094225 | ||||||
chr17:30094318
|
G | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4321+1382G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094318 | ||||||
chr17:30094364
|
T | A | 86 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(83): Show | 87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+1428T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094364 | ||||||
chr17:30094451
|
G | C | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+1515G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094451 | ||||||
chr17:30094507
|
C | CA | 39 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0151others(36): Show | 39 | HG00639.hp2 HG01081.hp1 HG01109.hp2 others(36): Show |
intron_variant | MODIFIER | c.4321+1598dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | |||||
chr17:30094507
|
CA | C | 18 | a0001c0001t0001g0116a0001c0001t0001g0119a0001c0001t0001g0121others(15): Show | 18 | HG01070.hp2 HG01243.hp1 HG01256.hp1 others(15): Show |
intron_variant | MODIFIER | c.4321+1598delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | |||||
chr17:30094507
|
CAA | C | 29 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(26): Show | 29 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.4321+1597_4321+159 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | |||||
chr17:30094507
|
CAAA | C | 25 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0115others(22): Show | 25 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.4321+1596_4321+159 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | |||||
chr17:30094507
|
CAAAAAAA others(3): Show |
C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+1589_4321+159 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | |||||
chr17:30094519
|
A | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4321+1583A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094519 | ||||||
chr17:30094523
|
A | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.4321+1587A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094523 | ||||||
chr17:30094526
|
A | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.4321+1590A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094526 | ||||||
chr17:30094534
|
A | C | 44 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0110others(41): Show | 44 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.4321+1598A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094534 | ||||||
chr17:30094687
|
C | G | 22 | a0001c0001t0001g0197a0002c0017t0002g0035a0003c0003t0002g0132others(19): Show | 22 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.4321+1751C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094687 | ||||||
chr17:30094938
|
T | A | 1 | a0003c0003t0002g0133 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4321+2002T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094938 | ||||||
chr17:30094951
|
G | T | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+2015G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094951 | ||||||
chr17:30094996
|
G | C | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4321+2060G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094996 | ||||||
chr17:30095274
|
G | A | 8 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(5): Show | 8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+2338G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095274 | ||||||
chr17:30095295
|
G | A | 2 | a0001c0001t0001g0121a0001c0001t0001g0122 | 2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.4321+2359G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095295 | ||||||
chr17:30095500
|
C | T | 36 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0110others(33): Show | 36 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.4321+2564C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095500 | ||||||
chr17:30095598
|
A | G | 1 | a0001c0001t0001g0186 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.4321+2662A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095598 | ||||||
chr17:30096070
|
G | A | 86 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(83): Show | 87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+3134G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096070 | ||||||
chr17:30096263
|
T | A | 1 | a0001c0001t0001g0197 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.4321+3327T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096263 | ||||||
chr17:30096412
|
A | G | 157 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(154): Show | 158 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
intron_variant | MODIFIER | c.4321+3476A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096412 | ||||||
chr17:30096530
|
G | C | 4 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018others(1): Show | 4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+3594G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096530 | ||||||
chr17:30096652
|
C | CAT | 5 | a0001c0001t0001g0235a0001c0001t0001g0238a0001c0001t0001g0245others(2): Show | 5 | HG00609.hp1 NA18964.hp1 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.4321+3741_4321+374 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
C | CATATATA others(3): Show |
1 | a0008c0011t0002g0020 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4321+3733_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
C | CATATATA others(9): Show |
1 | a0005c0007t0002g0130 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4321+3727_4321+374 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
C | CATATATA others(19): Show |
1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4321+3717_4321+374 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
CAT | C | 13 | a0001c0001t0001g0150a0001c0001t0001g0160a0001c0001t0001g0162others(10): Show | 13 | HG00733.hp2 HG01261.hp2 HG01516.hp2 others(10): Show |
intron_variant | MODIFIER | c.4321+3741_4321+374 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
CATAT | C | 3 | a0003c0003t0002g0145a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG03041.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4321+3739_4321+374 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
CATATATA others(1): Show |
C | 9 | a0001c0001t0001g0110a0001c0001t0001g0119a0001c0001t0001g0123others(6): Show | 9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+3735_4321+374 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096652
|
CATATATA others(3): Show |
C | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4321+3733_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | |||||
chr17:30096666
|
TATATATA others(4): Show |
T | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4321+3731_4321+374 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096666 | ||||||
chr17:30096672
|
TATA | T | 4 | a0002c0017t0002g0035a0003c0003t0002g0135a0003c0003t0002g0136others(1): Show | 4 | HG02572.hp2 HG03098.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+3737_4321+373 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096672 | ||||||
chr17:30096673
|
A | ATT | 3 | a0001c0001t0001g0211a0001c0001t0001g0247a0003c0014t0002g0006 | 3 | HG02630.hp2 HG03225.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4321+3738_4321+373 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096673 | |||||
chr17:30096673
|
A | T | 3 | a0001c0001t0001g0108a0001c0001t0001g0155a0001c0001t0001g0205 | 3 | HG02622.hp2 NA19043.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4321+3737A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096673 | ||||||
chr17:30096674
|
TA | T | 6 | a0001c0001t0001g0154a0001c0001t0001g0170a0001c0001t0001g0175others(3): Show | 6 | HG02717.hp1 HG03017.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+3739delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096674 | ||||||
chr17:30096674
|
TATA | T | 9 | a0001c0001t0001g0197a0003c0003t0002g0133a0003c0003t0002g0140others(6): Show | 9 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+3739_4321+374 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096674 | ||||||
chr17:30096675
|
A | AT | 8 | a0001c0001t0001g0010a0001c0001t0001g0147a0001c0001t0001g0173others(5): Show | 8 | HG00609.hp2 HG00639.hp2 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+3740dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096675 | |||||
chr17:30096675
|
A | ATTTTTTT others(3): Show |
2 | a0007c0009t0002g0100a0007c0009t0002g0101 | 2 | HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4321+3740_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096675 | |||||
chr17:30096675
|
A | T | 15 | a0001c0001t0001g0108a0001c0001t0001g0153a0001c0001t0001g0155others(12): Show | 15 | HG02622.hp2 HG02630.hp2 HG03041.hp1 others(12): Show |
intron_variant | MODIFIER | c.4321+3739A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096675 | ||||||
chr17:30096676
|
TA | T | 20 | a0001c0001t0001g0148a0001c0001t0001g0152a0001c0001t0001g0156others(17): Show | 20 | HG00140.hp2 HG01168.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.4321+3741delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096676 | ||||||
chr17:30096677
|
A | ATATATAT others(9): Show |
1 | a0001c0001t0001g0107 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(13): Show |
1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(3): Show |
1 | a0008c0011t0002g0021 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(5): Show |
1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(6): Show |
1 | a0004c0004t0002g0098 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(4): Show |
3 | a0004c0004t0002g0097a0004c0004t0002g0104a0004c0004t0002g0105 | 3 | HG02895.hp1 HG02896.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4321+3742_4321+374 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATATAT others(7): Show |
1 | a0001c0001t0001g0116 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | ATATTTTT others(3): Show |
1 | a0004c0004t0002g0099 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
A | T | 72 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0108others(69): Show | 72 | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.4321+3741A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096677 | ||||||
chr17:30096677
|
AT | A | 11 | a0001c0001t0001g0203a0001c0001t0001g0208a0001c0024t0004g0159others(8): Show | 11 | HG00408.hp1 HG01496.hp2 HG02004.hp2 others(8): Show |
intron_variant | MODIFIER | c.4321+3761delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
ATTT | A | 55 | a0001c0001t0001g0007a0001c0001t0001g0158a0002c0002t0002g0001others(52): Show | 56 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.4321+3759_4321+376 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096677
|
ATTTT | A | 7 | a0001c0001t0001g0008a0002c0002t0002g0026a0002c0002t0002g0044others(4): Show | 7 | HG01168.hp2 HG01361.hp2 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.4321+3758_4321+376 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | |||||
chr17:30096678
|
T | TA | 6 | a0001c0001t0001g0225a0002c0002t0002g0002a0002c0002t0002g0033others(3): Show | 6 | HG01123.hp2 HG01261.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+3742_4321+374 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096678 | ||||||
chr17:30096678
|
T | TATATATA others(8): Show |
1 | a0005c0007t0002g0129 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(19): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096678 | ||||||
chr17:30096679
|
T | A | 6 | a0001c0001t0001g0168a0001c0001t0001g0235a0001c0001t0001g0238others(3): Show | 6 | HG00609.hp1 HG02258.hp1 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.4321+3743T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096679 | ||||||
chr17:30096680
|
T | A | 16 | a0001c0001t0001g0203a0001c0001t0001g0208a0001c0024t0004g0159others(13): Show | 16 | HG00408.hp1 HG01123.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.4321+3744T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096680 | ||||||
chr17:30096681
|
T | A | 5 | a0001c0001t0001g0011a0002c0002t0002g0054a0002c0002t0002g0063others(2): Show | 5 | HG00609.hp1 HG00621.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4321+3745T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096681 | ||||||
chr17:30096682
|
T | A | 60 | a0001c0001t0001g0007a0001c0001t0001g0158a0001c0001t0001g0203others(57): Show | 61 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.4321+3746T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096682 | ||||||
chr17:30096683
|
T | A | 11 | a0001c0001t0001g0008a0001c0001t0001g0011a0002c0002t0002g0026others(8): Show | 11 | HG00609.hp1 HG00621.hp2 HG01168.hp2 others(8): Show |
intron_variant | MODIFIER | c.4321+3747T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096683 | ||||||
chr17:30096684
|
T | A | 3 | a0002c0002t0002g0085a0002c0002t0002g0091a0002c0002t0002g0096 | 3 | HG03490.hp2 HG04199.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.4321+3748T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096684 | ||||||
chr17:30096685
|
T | A | 3 | a0002c0002t0002g0054a0002c0002t0002g0056a0002c0002t0002g0063 | 3 | HG00609.hp1 NA18971.hp2 NA18993.hp2 |
intron_variant | MODIFIER | c.4321+3749T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096685 | ||||||
chr17:30096866
|
G | A | 17 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(14): Show | 17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.4321+3930G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096866 | ||||||
chr17:30096983
|
T | TATATAC | 8 | a0001c0001t0001g0009a0001c0001t0001g0154a0001c0001t0001g0175others(5): Show | 8 | HG00733.hp2 HG01256.hp2 HG02273.hp1 others(5): Show |
intron_variant | MODIFIER | c.4321+4113_4321+411 others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
T | TATATACA others(5): Show |
2 | a0001c0001t0001g0223a0001c0001t0001g0243 | 2 | NA18963.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4321+4107_4321+411 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
T | TATATACA others(5): Show |
1 | a0002c0002t0002g0052 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4321+4055_4321+405 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
TATATAC | T | 36 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0151others(33): Show | 36 | HG00280.hp2 HG00323.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.4321+4113_4321+411 others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
TATATACA others(5): Show |
T | 25 | a0001c0001t0001g0010a0001c0001t0001g0150a0001c0001t0001g0162others(22): Show | 25 | HG00609.hp2 HG00639.hp2 HG01168.hp1 others(22): Show |
intron_variant | MODIFIER | c.4321+4107_4321+411 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
TATATACA others(11): Show |
T | 3 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231 | 3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+411 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30096983
|
TATATACA others(17): Show |
T | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4321+4095_4321+411 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | |||||
chr17:30097014
|
A | ATATACAT others(17): Show |
2 | a0005c0007t0002g0129a0005c0007t0002g0130 | 2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+410 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097014 | |||||
chr17:30097014
|
A | ATATACAT others(11): Show |
1 | a0005c0007t0002g0131 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4321+4095_4321+409 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097014 | |||||
chr17:30097030
|
ACATATAC others(24): Show |
A | 2 | a0001c0001t0001g0115a0001c0001t0001g0122 | 2 | HG02559.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.4321+4095_4321+412 others(35): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097030 | ||||||
chr17:30097031
|
C | T | 8 | a0001c0001t0001g0197a0002c0020t0002g0019a0003c0003t0002g0140others(5): Show | 8 | HG01243.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+4095C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097031 | ||||||
chr17:30097033
|
TATACATA others(9): Show |
T | 2 | a0001c0001t0001g0192a0003c0003t0002g0138 | 2 | HG03017.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+411 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097033 | |||||
chr17:30097036
|
ACATATAC others(18): Show |
A | 15 | a0001c0001t0001g0109a0001c0001t0001g0114a0001c0001t0001g0117others(12): Show | 15 | HG01243.hp1 HG01243.hp2 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.4321+4101_4321+412 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097036 | ||||||
chr17:30097037
|
C | T | 5 | a0002c0005t0002g0025a0002c0017t0002g0035a0003c0003t0002g0144others(2): Show | 5 | HG00741.hp1 HG02132.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.4321+4101C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097037 | ||||||
chr17:30097037
|
CATATACA others(7): Show |
C | 1 | a0002c0002t0002g0077 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.4321+4107_4321+412 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097037 | |||||
chr17:30097039
|
TATACATA others(3): Show |
T | 3 | a0001c0001t0001g0158a0001c0001t0001g0171a0002c0002t0002g0033 | 3 | HG01261.hp1 HG03834.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.4321+4107_4321+411 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097039 | |||||
chr17:30097042
|
ACATATAC others(12): Show |
A | 14 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0118others(11): Show | 14 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.4321+4107_4321+412 others(23): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097042 | ||||||
chr17:30097043
|
C | T | 16 | a0001c0024t0004g0159a0002c0002t0002g0001a0002c0002t0002g0032others(13): Show | 17 | HG00408.hp1 HG00639.hp1 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.4321+4107C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097043 | ||||||
chr17:30097048
|
ACATATAT others(6): Show |
A | 25 | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0001t0001g0123others(22): Show | 26 | HG00408.hp1 HG00639.hp1 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.4321+4113_4321+412 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097048 | ||||||
chr17:30097049
|
C | T | 22 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0208others(19): Show | 22 | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(19): Show |
intron_variant | MODIFIER | c.4321+4113C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097049 | ||||||
chr17:30097051
|
T | TATACATA others(3): Show |
8 | a0002c0002t0002g0038a0002c0002t0002g0043a0002c0002t0002g0050others(5): Show | 8 | HG00408.hp2 HG00621.hp1 HG01069.hp1 others(5): Show |
intron_variant | MODIFIER | c.4321+4118_4321+411 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | |||||
chr17:30097051
|
T | TATACATA others(9): Show |
1 | a0002c0002t0002g0031 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4321+4118_4321+411 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | |||||
chr17:30097051
|
T | TATACGTA others(33): Show |
1 | a0014c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4321+4118_4321+411 others(44): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | |||||
chr17:30097054
|
ATATATAT | A | 21 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0208others(18): Show | 21 | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(18): Show |
intron_variant | MODIFIER | c.4321+4120_4321+412 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097054 | |||||
chr17:30097055
|
T | C | 15 | a0001c0001t0001g0008a0002c0002t0002g0022a0002c0002t0002g0055others(12): Show | 15 | HG01433.hp2 HG01993.hp1 HG02683.hp2 others(12): Show |
intron_variant | MODIFIER | c.4321+4119T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097055 | ||||||
chr17:30097056
|
ATATATTT | A | 6 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0119others(3): Show | 6 | HG02055.hp1 HG02257.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+4122_4321+412 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097056 | |||||
chr17:30097060
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0221 | 2 | HG00323.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4321+4124A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097060 | ||||||
chr17:30097060
|
AT | A | 40 | a0001c0001t0001g0152a0001c0001t0001g0171a0001c0001t0001g0192others(37): Show | 40 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(37): Show |
intron_variant | MODIFIER | c.4321+4137delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097060 | |||||
chr17:30097061
|
T | A | 1 | a0004c0004t0002g0105 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4321+4125T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | ||||||
chr17:30097061
|
T | TA | 12 | a0001c0001t0001g0108a0002c0002t0002g0031a0002c0002t0002g0038others(9): Show | 12 | HG00408.hp2 HG00621.hp1 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.4321+4125_4321+412 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | ||||||
chr17:30097061
|
T | TATATA | 11 | a0001c0001t0001g0008a0002c0002t0002g0055a0002c0002t0002g0056others(8): Show | 11 | HG01433.hp2 HG02683.hp2 HG03834.hp1 others(8): Show |
intron_variant | MODIFIER | c.4321+4125_4321+412 others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | ||||||
chr17:30097062
|
T | A | 12 | a0001c0001t0001g0147a0001c0001t0001g0150a0001c0001t0001g0177others(9): Show | 12 | HG00280.hp2 HG01070.hp2 HG01168.hp2 others(9): Show |
intron_variant | MODIFIER | c.4321+4126T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097062 | ||||||
chr17:30097063
|
T | A | 34 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(31): Show | 34 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.4321+4127T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097063 | ||||||
chr17:30097073
|
T | C | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.4321+4137T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097073 | ||||||
chr17:30097134
|
G | T | 4 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018others(1): Show | 4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+4198G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097134 | ||||||
chr17:30097307
|
G | A | 4 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131others(1): Show | 4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.4321+4371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097307 | ||||||
chr17:30097623
|
C | G | 2 | a0001c0001t0001g0107a0001c0001t0001g0113 | 2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4321+4687C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097623 | ||||||
chr17:30097670
|
C | T | 1 | a0002c0002t0002g0029 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.4321+4734C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097670 | ||||||
chr17:30097689
|
C | T | 6 | a0001c0001t0001g0116a0001c0001t0001g0121a0001c0001t0001g0122others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+4753C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097689 | ||||||
chr17:30097979
|
G | A | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4321+5043G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097979 | ||||||
chr17:30098300
|
T | A | 12 | a0001c0001t0001g0197a0002c0017t0002g0035a0003c0003t0002g0135others(9): Show | 12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.4321+5364T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098300 | ||||||
chr17:30098536
|
G | GA | 23 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(20): Show | 23 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.4321+5615dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30098536 | |||||
chr17:30098552
|
C | A | 4 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018others(1): Show | 4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+5616C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098552 | ||||||
chr17:30098613
|
C | T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+5677C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098613 | ||||||
chr17:30098851
|
T | G | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4321+5915T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098851 | ||||||
chr17:30098974
|
G | A | 3 | a0001c0001t0001g0170a0001c0001t0001g0175a0001c0001t0001g0180 | 3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.4321+6038G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098974 | ||||||
chr17:30099007
|
A | C | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4321+6071A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099007 | ||||||
chr17:30099250
|
C | G | 1 | a0002c0002t0002g0072 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.4321+6314C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099250 | ||||||
chr17:30099382
|
G | A | 3 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4321+6446G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099382 | ||||||
chr17:30099428
|
T | TA | 79 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(76): Show | 80 | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.4321+6503dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30099428 | |||||
chr17:30099428
|
T | TAA | 8 | a0002c0002t0002g0002a0002c0002t0002g0058a0002c0002t0002g0080others(5): Show | 8 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+6502_4321+650 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30099428 | |||||
chr17:30099471
|
C | G | 19 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0116others(16): Show | 19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4321+6535C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099471 | ||||||
chr17:30099598
|
C | T | 19 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0116others(16): Show | 19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4321+6662C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099598 | ||||||
chr17:30099756
|
C | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+6820C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099756 | ||||||
chr17:30099907
|
T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+6971T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099907 | ||||||
chr17:30099985
|
A | T | 20 | a0001c0001t0001g0197a0002c0017t0002g0035a0003c0003t0002g0132others(17): Show | 20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.4321+7049A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099985 | ||||||
chr17:30099998
|
A | G | 86 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(83): Show | 87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+7062A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099998 | ||||||
chr17:30100137
|
G | A | 1 | a0002c0002t0002g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.4321+7201G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100137 | ||||||
chr17:30100765
|
C | CA | 90 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(87): Show | 91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-7058dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30100765 | |||||
chr17:30100880
|
A | G | 90 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(87): Show | 91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-6954A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100880 | ||||||
chr17:30100903
|
A | T | 1 | a0003c0003t0002g0143 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4322-6931A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100903 | ||||||
chr17:30100989
|
G | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4322-6845G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100989 | ||||||
chr17:30100995
|
G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4322-6839G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100995 | ||||||
chr17:30101187
|
C | G | 20 | a0001c0001t0001g0197a0002c0017t0002g0035a0003c0003t0002g0132others(17): Show | 20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.4322-6647C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101187 | ||||||
chr17:30101326
|
T | C | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.4322-6508T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101326 | ||||||
chr17:30101583
|
C | T | 1 | a0012c0023t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4322-6251C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101583 | ||||||
chr17:30101683
|
C | T | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-6151C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101683 | ||||||
chr17:30101805
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4322-6029G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101805 | ||||||
chr17:30102087
|
CATGGGTG others(52): Show |
C | 1 | a0001c0001t0001g0183 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4322-5708_4322-565 others(63): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30102087 | |||||
chr17:30102091
|
G | A | 1 | a0002c0002t0002g0072 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.4322-5743G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102091 | ||||||
chr17:30102219
|
A | G | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4322-5615A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102219 | ||||||
chr17:30102455
|
C | T | 2 | a0001c0001t0001g0107a0001c0001t0001g0113 | 2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4322-5379C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102455 | ||||||
chr17:30102557
|
T | C | 90 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(87): Show | 91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-5277T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102557 | ||||||
chr17:30102825
|
CT | C | 19 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0116others(16): Show | 19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4322-5002delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30102825 | |||||
chr17:30102924
|
C | T | 4 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018others(1): Show | 4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-4910C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102924 | ||||||
chr17:30103005
|
A | AT | 9 | a0004c0004t0002g0015a0004c0004t0002g0097a0004c0004t0002g0098others(6): Show | 9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4322-4824dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30103005 | |||||
chr17:30103229
|
AAT | A | 3 | a0003c0003t0002g0137a0003c0003t0002g0215a0003c0003t0002g0216 | 3 | HG02965.hp2 HG03098.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4322-4592_4322-459 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30103229 | |||||
chr17:30103285
|
C | A | 90 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(87): Show | 91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-4549C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103285 | ||||||
chr17:30103738
|
G | T | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4322-4096G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103738 | ||||||
chr17:30103878
|
G | A | 26 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0113others(23): Show | 26 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.4322-3956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103878 | ||||||
chr17:30103941
|
G | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4322-3893G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103941 | ||||||
chr17:30104066
|
C | T | 3 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169 | 3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.4322-3768C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104066 | ||||||
chr17:30104144
|
A | G | 1 | a0001c0001t0001g0110 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4322-3690A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104144 | ||||||
chr17:30104180
|
T | C | 153 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(150): Show | 154 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.4322-3654T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104180 | ||||||
chr17:30104551
|
CA | C | 154 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(151): Show | 155 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.4322-3272delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30104551 | |||||
chr17:30104770
|
A | G | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4322-3064A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104770 | ||||||
chr17:30105076
|
C | T | 3 | a0002c0002t0002g0038a0002c0002t0002g0068a0002c0002t0002g0069 | 3 | HG00408.hp2 HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.4322-2758C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105076 | ||||||
chr17:30105128
|
T | C | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.4322-2706T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105128 | ||||||
chr17:30105597
|
C | T | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4322-2237C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105597 | ||||||
chr17:30106257
|
A | G | 110 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(107): Show | 111 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(108): Show |
intron_variant | MODIFIER | c.4322-1577A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106257 | ||||||
chr17:30106560
|
G | A | 1 | a0002c0002t0002g0022 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.4322-1274G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106560 | ||||||
chr17:30106674
|
C | CTT | 3 | a0003c0006t0002g0003a0003c0006t0002g0004a0003c0006t0002g0005 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4322-1159_4322-115 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30106674 | |||||
chr17:30106746
|
T | C | 156 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(153): Show | 157 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(154): Show |
intron_variant | MODIFIER | c.4322-1088T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106746 | ||||||
chr17:30107396
|
T | C | 4 | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(1): Show | 4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-438T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107396 | ||||||
chr17:30107514
|
C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4322-320C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107514 | ||||||
chr17:30107690
|
G | A | 3 | a0005c0007t0002g0129a0005c0007t0002g0130a0005c0007t0002g0131 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4322-144G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107690 | ||||||
chr17:30107798
|
C | T | 2 | a0001c0001t0001g0185a0001c0001t0001g0186 | 2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.4322-36C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107798 | ||||||
chr17:30107808
|
ACTTTT | A | 157 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(154): Show | 158 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
intron_variant | MODIFIER | c.4322-20_4322-16del others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30107808 |