Item | Value |
---|---|
geneid | 285596 |
ensemblid | ENSG00000170074.21 |
hgncid | 29940 |
symbol | FAM153A |
name | family with sequence similarity 153 member A |
refseq_nuc | NM_001413826.1 |
refseq_prot | NP_001400755.1 |
ensembl_nuc | ENST00000697116.2 |
ensembl_prot | ENSP00000513119.1 |
mane_status | MANE Select |
chr | chr5 |
start | 177723364 |
end | 177782899 |
strand | - |
ver | v1.2 |
region | chr5:177723364-177782899 |
region5000 | chr5:177718364-177787899 |
regionname0 | FAM153A_chr5_177723364_177782899 |
regionname5000 | FAM153A_chr5_177718364_177787899 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 310 | 30 | 8 | 6 | 12 | 0 | 2 | 6 | FAM153A_chr5_177718364_177787899 | FAM153A | MVDKD others(305): Show |
chr5 | 177718364 | 177787899 |
a0002 | 0/0 | 310 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | MVDKD others(305): Show |
chr5 | 177718364 | 177787899 |
a0003 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | MVDKD others(305): Show |
chr5 | 177718364 | 177787899 |
a0004 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | MVDKD others(305): Show |
chr5 | 177718364 | 177787899 |
a0005 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | MVDKD others(305): Show |
chr5 | 177718364 | 177787899 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 930 | 29 | 8 | 6 | 12 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 | ||
a0001c0003 | 0/1 | 930 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 | ||
a0002c0002 | 0/0 | 930 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 | ||
a0003c0005 | 0/0 | 930 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 | ||
a0004c0006 | 0/0 | 930 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 | ||
a0005c0004 | 0/0 | 930 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | ATGGT others(925): Show |
chr5 | 177718364 | 177787899 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 2176 | 18 | 3 | 2 | 12 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0001c0001t0002 | 0/0 | 2176 | 4 | 0 | 2 | 0 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0001c0001t0003 | 0/0 | 2176 | 5 | 5 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0001c0001t0005 | 0/0 | 2176 | 2 | 0 | 2 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0001c0003t0002 | 0/1 | 2176 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0002c0002t0004 | 0/0 | 2176 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0003c0005t0001 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0004c0006t0001 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
a0005c0004t0006 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | GGAGA others(2171): Show |
chr5 | 177718364 | 177787899 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0002g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0003g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0003g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0005g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0001t0005g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0001c0003t0002g0007 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0002c0002t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0002c0002t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0002c0002t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0003c0005t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0004c0006t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
a0005c0004t0006g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00621 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | CHS | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | CHS | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PUR | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG00639 | hp2 | a0001 | c0001 | t0002 | g0008 | AMR | PUR | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG01255 | hp1 | a0001 | c0001 | t0005 | g0003 | AMR | CLM | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG01255 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG01952 | hp1 | a0001 | c0001 | t0005 | g0004 | AMR | PEL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | PEL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | KHV | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | KHV | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02258 | hp1 | a0002 | c0002 | t0004 | g0027 | AFR | ACB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02922 | hp1 | a0001 | c0001 | t0003 | g0023 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG02922 | hp2 | a0001 | c0001 | t0003 | g0016 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03130 | hp2 | a0001 | c0001 | t0003 | g0001 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03453 | hp1 | a0001 | c0001 | t0003 | g0024 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03831 | hp1 | a0001 | c0001 | t0002 | g0005 | SAS | BEB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03831 | hp2 | a0001 | c0001 | t0002 | g0006 | SAS | BEB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | CHB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | CHB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA18974 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03471 | hp1 | a0002 | c0002 | t0004 | g0026 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG03471 | hp2 | a0003 | c0005 | t0001 | g0035 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG06807 | hp1 | a0004 | c0006 | t0001 | g0032 | AFR | USA | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
HG06807 | hp2 | a0001 | c0001 | t0003 | g0001 | AFR | USA | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA21309 | hp1 | a0005 | c0004 | t0006 | g0025 | AFR | LWK | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
NA21309 | hp2 | a0002 | c0002 | t0004 | g0009 | AFR | LWK | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
homoSapiens | chm13v2 | a0001 | c0003 | t0002 | g0007 | REF | REF | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0012 | REF | REF | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:177724328 | T | G | 1 | a0003 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.806A>C | p.Glu269Ala | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/23 | 1300/2176 | 806/933 | 269/310 | chr5 | 177724328 | |||
chr5:177724332 | C | T | 1 | a0002 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.802G>A | p.Glu268Lys | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/23 | 1296/2176 | 802/933 | 268/310 | chr5 | 177724332 | |||
chr5:177729522 | T | C | 1 | a0002 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.665A>G | p.Glu222Gly | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/23 | 1159/2176 | 665/933 | 222/310 | chr5 | 177729522 | |||
chr5:177732073 | A | C | 1 | a0003 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.557T>G | p.Val186Gly | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 17/23 | 1051/2176 | 557/933 | 186/310 | chr5 | 177732073 | |||
chr5:177736579 | A | G | 1 | a0005 | 1 | NA21309.hp1 | missense_variant&splice_region_variant | MODERATE | c.433T>C | p.Phe145Leu | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/23 | 927/2176 | 433/933 | 145/310 | chr5 | 177736579 | |||
chr5:177737043 | G | A | 2 | a0003 a0005 |
2 | HG03471.hp2 NA21309.hp1 |
missense_variant&splice_region_variant | MODERATE | c.401C>T | p.Thr134Met | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/23 | 895/2176 | 401/933 | 134/310 | chr5 | 177737043 | |||
chr5:177737085 | C | A | 1 | a0004 | 1 | HG06807.hp1 | missense_variant | MODERATE | c.359G>T | p.Gly120Val | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/23 | 853/2176 | 359/933 | 120/310 | chr5 | 177737085 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:177723463 | A | G | 1 | a0001c0001t0003 | 5 | HG02922.hp1 HG02922.hp2 HG03130.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*650T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 650 | chr5 | 177723463 | ||||||
chr5:177723469 | T | G | 1 | a0005c0004t0006 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*644A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 644 | chr5 | 177723469 | ||||||
chr5:177723615 | G | A | 1 | a0001c0001t0005 | 2 | HG01255.hp1 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*498C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 498 | chr5 | 177723615 | ||||||
chr5:177723723 | C | T | 1 | a0002c0002t0004 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*390G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 390 | chr5 | 177723723 | ||||||
chr5:177723778 | A | G | 1 | a0005c0004t0006 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*335T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 335 | chr5 | 177723778 | ||||||
chr5:177782776 | C | T | 2 | a0001c0001t0002 a0001c0001t0005 |
6 | HG00639.hp2 HG01255.hp1 HG01255.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-371G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/23 | 34133 | chr5 | 177782776 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:177724261 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.839+34T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/22 | chr5 | 177724261 | |||||||
chr5:177724435 | T | C | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.772-73A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724435 | |||||||
chr5:177724455 | C | T | 21 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(18): Show |
22 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(19): Show |
intron_variant | MODIFIER | c.772-93G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724455 | |||||||
chr5:177724516 | C | T | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.772-154G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724516 | |||||||
chr5:177724685 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.771+99T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724685 | |||||||
chr5:177724693 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.771+91C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724693 | |||||||
chr5:177725037 | T | C | 5 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 others(2): Show |
5 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.734-216A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725037 | |||||||
chr5:177725188 | G | T | 4 | a0001c0001t0001g0010 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG03471.hp1 NA18612.hp2 others(1): Show |
intron_variant | MODIFIER | c.734-367C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725188 | |||||||
chr5:177725308 | G | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-487C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725308 | |||||||
chr5:177725362 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.734-541C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725362 | |||||||
chr5:177725507 | T | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-686A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725507 | |||||||
chr5:177725546 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-725T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725546 | |||||||
chr5:177725644 | T | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-823A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725644 | |||||||
chr5:177725676 | A | G | 4 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 others(1): Show |
4 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.734-855T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725676 | |||||||
chr5:177726515 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-1694G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177726515 | |||||||
chr5:177727120 | C | T | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.733+1903G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727120 | |||||||
chr5:177727418 | T | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.733+1605A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727418 | |||||||
chr5:177727609 | A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+1414T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727609 | |||||||
chr5:177727741 | A | T | 6 | a0001c0001t0001g0010 a0002c0002t0004g0009 a0002c0002t0004g0026 others(3): Show |
6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+1282T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727741 | |||||||
chr5:177727766 | A | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+1257T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727766 | |||||||
chr5:177727780 | T | C | 6 | a0001c0001t0001g0010 a0002c0002t0004g0009 a0002c0002t0004g0026 others(3): Show |
6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+1243A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727780 | |||||||
chr5:177728130 | A | C | 1 | a0001c0001t0001g0014 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.733+893T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728130 | |||||||
chr5:177728235 | G | A | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.733+788C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728235 | |||||||
chr5:177728264 | C | T | 3 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | HG00621.hp2 NA19066.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.733+759G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728264 | |||||||
chr5:177728309 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.733+714T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728309 | |||||||
chr5:177728480 | C | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+543G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728480 | |||||||
chr5:177728527 | G | T | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.733+496C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728527 | |||||||
chr5:177728553 | GT | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.733+469delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728553 | |||||||
chr5:177728561 | T | G | 2 | a0001c0001t0001g0034 a0003c0005t0001g0035 |
2 | HG01952.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.733+462A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728561 | |||||||
chr5:177728565 | G | T | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.733+458C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728565 | |||||||
chr5:177728668 | G | A | 6 | a0001c0001t0001g0010 a0002c0002t0004g0009 a0002c0002t0004g0026 others(3): Show |
6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+355C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728668 | |||||||
chr5:177729265 | A | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.703-212T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729265 | |||||||
chr5:177729394 | G | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.702+91C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729394 | |||||||
chr5:177729423 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.702+62T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729423 | |||||||
chr5:177729785 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.632-230C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177729785 | |||||||
chr5:177729949 | C | T | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-394G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177729949 | |||||||
chr5:177730089 | T | C | 1 | a0001c0001t0001g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.632-534A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730089 | |||||||
chr5:177730235 | G | T | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-680C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730235 | |||||||
chr5:177730239 | C | T | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-684G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730239 | |||||||
chr5:177730281 | G | T | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.632-726C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730281 | |||||||
chr5:177730287 | T | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-732A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730287 | |||||||
chr5:177730313 | T | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-758A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730313 | |||||||
chr5:177730314 | T | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-759A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730314 | |||||||
chr5:177730319 | A | G | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-764T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730319 | |||||||
chr5:177730349 | C | T | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-794G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730349 | |||||||
chr5:177730367 | T | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-812A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730367 | |||||||
chr5:177730395 | G | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-840C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730395 | |||||||
chr5:177730479 | T | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-924A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730479 | |||||||
chr5:177730482 | A | G | 1 | a0001c0001t0001g0020 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.632-927T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730482 | |||||||
chr5:177730507 | G | T | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-952C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730507 | |||||||
chr5:177730536 | C | T | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-981G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730536 | |||||||
chr5:177730582 | T | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+987A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730582 | |||||||
chr5:177730639 | G | T | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.631+930C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730639 | |||||||
chr5:177730649 | G | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.631+920C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730649 | |||||||
chr5:177730713 | C | G | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+856G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730713 | |||||||
chr5:177730985 | C | T | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+584G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730985 | |||||||
chr5:177731112 | G | GT | 8 | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0002g0005 others(5): Show |
8 | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.631+456dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731112 | |||||||
chr5:177731113 | T | G | 1 | a0001c0001t0001g0011 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.631+456A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731113 | |||||||
chr5:177731197 | T | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+372A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731197 | |||||||
chr5:177731213 | C | A | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+356G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731213 | |||||||
chr5:177731267 | A | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+302T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731267 | |||||||
chr5:177731313 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.631+256T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731313 | |||||||
chr5:177731350 | T | C | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.631+219A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731350 | |||||||
chr5:177731551 | G | T | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+18C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731551 | |||||||
chr5:177732165 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.530-65C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732165 | |||||||
chr5:177732317 | T | C | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-217A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732317 | |||||||
chr5:177732462 | A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.530-362T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732462 | |||||||
chr5:177732510 | CT | C | 6 | a0001c0001t0001g0010 a0002c0002t0004g0009 a0002c0002t0004g0026 others(3): Show |
6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.530-411delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732510 | |||||||
chr5:177732613 | G | T | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-513C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732613 | |||||||
chr5:177732695 | A | G | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-595T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732695 | |||||||
chr5:177732847 | G | A | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.530-747C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732847 | |||||||
chr5:177732875 | T | C | 1 | a0001c0001t0001g0028 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.530-775A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732875 | |||||||
chr5:177733176 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.530-1076A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733176 | |||||||
chr5:177733263 | A | G | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+1117T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733263 | |||||||
chr5:177733283 | T | C | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.529+1097A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733283 | |||||||
chr5:177733354 | G | A | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.529+1026C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733354 | |||||||
chr5:177734091 | A | G | 2 | a0001c0001t0001g0010 a0005c0004t0006g0025 |
2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+289T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734091 | |||||||
chr5:177734292 | C | T | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+88G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734292 | |||||||
chr5:177734310 | T | A | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+70A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734310 | |||||||
chr5:177734373 | T | C | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | splice_region_variant&intron_variant | LOW | c.529+7A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734373 | |||||||
chr5:177734537 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.505-133C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 15/22 | chr5 | 177734537 | |||||||
chr5:177734667 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.504+196T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 15/22 | chr5 | 177734667 | |||||||
chr5:177734949 | G | A | 4 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 others(1): Show |
4 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.434-16C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177734949 | |||||||
chr5:177734997 | C | G | 3 | a0001c0001t0001g0010 a0003c0005t0001g0035 a0005c0004t0006g0025 |
3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.434-64G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177734997 | |||||||
chr5:177735078 | A | G | 3 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 |
3 | HG02258.hp2 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.434-145T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735078 | |||||||
chr5:177735103 | T | A | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.434-170A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735103 | |||||||
chr5:177735160 | C | T | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.434-227G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735160 | |||||||
chr5:177735165 | T | G | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.434-232A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735165 | |||||||
chr5:177735189 | C | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-256G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735189 | |||||||
chr5:177735204 | C | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.434-271G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735204 | |||||||
chr5:177735221 | A | C | 2 | a0001c0001t0002g0008 a0003c0005t0001g0035 |
2 | HG00639.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.434-288T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735221 | |||||||
chr5:177735293 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-360G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735293 | |||||||
chr5:177735317 | A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-384T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735317 | |||||||
chr5:177735559 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-626G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735559 | |||||||
chr5:177735626 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-693G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735626 | |||||||
chr5:177735755 | G | C | 4 | a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0023 others(1): Show |
5 | HG02922.hp1 HG02922.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.434-822C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735755 | |||||||
chr5:177735804 | A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.433+775T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735804 | |||||||
chr5:177735874 | A | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.433+705T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735874 | |||||||
chr5:177736084 | T | TAAAAGAC others(166): Show |
1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.433+494_433+495ins others(173): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177736084 | |||||||
chr5:177736730 | G | A | 1 | a0001c0001t0001g0015 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.403-121C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/22 | chr5 | 177736730 | |||||||
chr5:177737345 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.332-233A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737345 | |||||||
chr5:177737504 | T | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.332-392A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737504 | |||||||
chr5:177737550 | C | T | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.332-438G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737550 | |||||||
chr5:177738026 | T | C | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.332-914A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738026 | |||||||
chr5:177738130 | A | G | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.331+983T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738130 | |||||||
chr5:177738593 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.331+520G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738593 | |||||||
chr5:177738667 | C | T | 23 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(20): Show |
24 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.331+446G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738667 | |||||||
chr5:177738732 | G | A | 1 | a0001c0001t0003g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.331+381C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738732 | |||||||
chr5:177738852 | C | A | 1 | a0001c0001t0003g0016 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.331+261G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738852 | |||||||
chr5:177738936 | A | G | 2 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | NA18612.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.331+177T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738936 | |||||||
chr5:177739258 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.307-121T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739258 | |||||||
chr5:177739497 | A | G | 2 | a0001c0001t0002g0002 a0001c0001t0005g0003 |
2 | HG01255.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.306+103T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739497 | |||||||
chr5:177739498 | A | T | 2 | a0001c0001t0002g0002 a0001c0001t0005g0003 |
2 | HG01255.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.306+102T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739498 | |||||||
chr5:177739792 | C | T | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.236-122G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 10/22 | chr5 | 177739792 | |||||||
chr5:177740345 | C | T | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.235+432G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 10/22 | chr5 | 177740345 | |||||||
chr5:177741692 | T | C | 1 | a0002c0002t0004g0026 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.134-360A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177741692 | |||||||
chr5:177742684 | G | A | 1 | a0001c0001t0002g0006 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.134-1352C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177742684 | |||||||
chr5:177742839 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.134-1507G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177742839 | |||||||
chr5:177743201 | G | GT | 7 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(4): Show |
7 | HG00621.hp2 HG02071.hp1 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.133+1192dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177743201 | |||||||
chr5:177743206 | G | T | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.133+1188C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177743206 | |||||||
chr5:177744354 | A | G | 6 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(3): Show |
6 | HG00621.hp2 NA18612.hp2 NA18974.hp1 others(3): Show |
intron_variant | MODIFIER | c.133+40T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177744354 | |||||||
chr5:177744807 | G | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.108+81C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 7/22 | chr5 | 177744807 | |||||||
chr5:177744822 | G | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.108+66C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 7/22 | chr5 | 177744822 | |||||||
chr5:177745134 | A | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-167T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745134 | |||||||
chr5:177745350 | A | C | 4 | a0001c0001t0002g0006 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG03471.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.29-383T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745350 | |||||||
chr5:177745533 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-566G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745533 | |||||||
chr5:177745825 | G | A | 4 | a0001c0001t0001g0013 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG03471.hp1 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.29-858C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745825 | |||||||
chr5:177745893 | A | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-926T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745893 | |||||||
chr5:177746124 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1157T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746124 | |||||||
chr5:177746160 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1193G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746160 | |||||||
chr5:177746207 | C | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1240G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746207 | |||||||
chr5:177746304 | C | T | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.29-1337G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746304 | |||||||
chr5:177746397 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1372T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746397 | |||||||
chr5:177746453 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1316G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746453 | |||||||
chr5:177746580 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1189A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746580 | |||||||
chr5:177746618 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1151T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746618 | |||||||
chr5:177746679 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1090G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746679 | |||||||
chr5:177746913 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+856T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746913 | |||||||
chr5:177747597 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+172T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177747597 | |||||||
chr5:177748044 | C | CCCTCTCT others(5): Show |
27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.4-263_4-252dupAAGG others(8): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 5/22 | chr5 | 177748044 | |||||||
chr5:177748744 | G | C | 2 | a0001c0001t0002g0002 a0001c0001t0002g0005 |
2 | HG01255.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-56-45C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748744 | |||||||
chr5:177748825 | T | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-126A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748825 | |||||||
chr5:177748876 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-56-177C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748876 | |||||||
chr5:177749445 | G | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-746C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749445 | |||||||
chr5:177749588 | T | A | 1 | a0002c0002t0004g0026 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-56-889A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749588 | |||||||
chr5:177749619 | C | T | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-56-920G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749619 | |||||||
chr5:177750746 | A | G | 4 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(1): Show |
4 | HG02258.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-56-2047T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177750746 | |||||||
chr5:177750822 | C | A | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-56-2123G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177750822 | |||||||
chr5:177751646 | A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-56-2947T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751646 | |||||||
chr5:177751784 | G | A | 1 | a0001c0001t0002g0006 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-56-3085C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751784 | |||||||
chr5:177751863 | G | T | 4 | a0001c0001t0001g0022 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02071.hp2 HG02258.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-56-3164C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751863 | |||||||
chr5:177752233 | C | T | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-56-3534G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752233 | |||||||
chr5:177752618 | CAA | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-3921_-56-3920d others(4): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752618 | |||||||
chr5:177752796 | C | T | 2 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-56-4097G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752796 | |||||||
chr5:177752932 | C | CA | 18 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(15): Show |
18 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.-56-4234dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752932 | |||||||
chr5:177752932 | CA | C | 4 | a0001c0001t0003g0016 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG02922.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-56-4234delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752932 | |||||||
chr5:177753088 | T | TA | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-4390_-56-4389i others(3): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753088 | |||||||
chr5:177753089 | T | A | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-4390A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753089 | |||||||
chr5:177753235 | G | A | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-56-4536C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753235 | |||||||
chr5:177753957 | C | T | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-56-5258G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753957 | |||||||
chr5:177754790 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-56-6091C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177754790 | |||||||
chr5:177755484 | G | A | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-56-6785C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755484 | |||||||
chr5:177755585 | C | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-6886G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755585 | |||||||
chr5:177755593 | G | A | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-56-6894C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755593 | |||||||
chr5:177756289 | A | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+7028T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756289 | |||||||
chr5:177756423 | T | A | 2 | a0001c0001t0001g0014 a0001c0001t0001g0015 |
2 | HG00621.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-57+6894A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756423 | |||||||
chr5:177756424 | C | G | 1 | a0001c0001t0001g0013 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-57+6893G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756424 | |||||||
chr5:177756525 | G | C | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-57+6792C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756525 | |||||||
chr5:177757463 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+5854A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757463 | |||||||
chr5:177757728 | A | C | 27 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(24): Show |
28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-57+5589T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757728 | |||||||
chr5:177757821 | C | T | 1 | a0001c0001t0003g0016 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-57+5496G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757821 | |||||||
chr5:177757934 | C | G | 1 | a0002c0002t0004g0009 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-57+5383G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757934 | |||||||
chr5:177758138 | G | A | 1 | a0001c0001t0002g0002 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-57+5179C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177758138 | |||||||
chr5:177758432 | G | A | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+4885C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177758432 | |||||||
chr5:177759945 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3372A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177759945 | |||||||
chr5:177760007 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-57+3310A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760007 | |||||||
chr5:177760012 | T | A | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3305A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760012 | |||||||
chr5:177760235 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3082G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760235 | |||||||
chr5:177760235 | CT | C | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-57+3081delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760235 | |||||||
chr5:177760236 | T | TC | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3080_-57+3081i others(3): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760236 | |||||||
chr5:177761138 | T | C | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-57+2179A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761138 | |||||||
chr5:177761164 | A | G | 4 | a0001c0001t0001g0033 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG02258.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-57+2153T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761164 | |||||||
chr5:177761879 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+1438T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761879 | |||||||
chr5:177763294 | C | T | 1 | a0001c0001t0001g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-57+23G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177763294 | |||||||
chr5:177763758 | T | G | 4 | a0001c0001t0001g0033 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG02258.hp1 HG02258.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250-248A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177763758 | |||||||
chr5:177763915 | T | C | 1 | a0004c0006t0001g0032 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-250-405A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177763915 | |||||||
chr5:177765256 | A | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-250-1746T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765256 | |||||||
chr5:177765809 | A | C | 1 | a0001c0001t0001g0010 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-251+1341T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765809 | |||||||
chr5:177765843 | G | T | 16 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(13): Show |
17 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(14): Show |
intron_variant | MODIFIER | c.-251+1307C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765843 | |||||||
chr5:177765923 | C | T | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-251+1227G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765923 | |||||||
chr5:177766340 | G | T | 3 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | HG00621.hp2 NA19066.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-251+810C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766340 | |||||||
chr5:177766654 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-251+496G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766654 | |||||||
chr5:177766854 | T | C | 23 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(20): Show |
24 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.-251+296A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766854 | |||||||
chr5:177767262 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-82G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177767262 | |||||||
chr5:177767589 | T | C | 1 | a0002c0002t0004g0027 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-281-409A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177767589 | |||||||
chr5:177768256 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-1076G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177768256 | |||||||
chr5:177769230 | C | CA | 3 | a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0002g0005 |
3 | HG03831.hp1 NA18974.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.-281-2051dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769230 | |||||||
chr5:177769379 | A | G | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-281-2199T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769379 | |||||||
chr5:177769451 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-2271G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769451 | |||||||
chr5:177769717 | T | C | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-281-2537A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769717 | |||||||
chr5:177769731 | T | C | 1 | a0005c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-281-2551A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769731 | |||||||
chr5:177769740 | C | G | 1 | a0001c0001t0002g0005 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-281-2560G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769740 | |||||||
chr5:177770680 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-3500A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177770680 | |||||||
chr5:177772403 | C | G | 1 | a0001c0001t0001g0020 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-281-5223G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772403 | |||||||
chr5:177772497 | C | A | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-281-5317G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772497 | |||||||
chr5:177772669 | A | G | 13 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(10): Show |
13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5489T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772669 | |||||||
chr5:177772692 | G | A | 13 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(10): Show |
13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5512C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772692 | |||||||
chr5:177772704 | G | A | 13 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(10): Show |
13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5524C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772704 | |||||||
chr5:177772709 | C | A | 13 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(10): Show |
13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5529G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772709 | |||||||
chr5:177772980 | C | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5800G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772980 | |||||||
chr5:177772993 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5813C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772993 | |||||||
chr5:177773013 | A | C | 8 | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0002g0002 others(5): Show |
8 | HG00639.hp1 HG00639.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.-281-5833T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773013 | |||||||
chr5:177773014 | G | T | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5834C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773014 | |||||||
chr5:177773034 | G | C | 9 | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(6): Show |
9 | HG00639.hp1 HG00639.hp2 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.-281-5854C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773034 | |||||||
chr5:177773075 | C | A | 2 | a0001c0001t0001g0017 a0001c0001t0001g0020 |
2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5895G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773075 | |||||||
chr5:177773081 | A | T | 2 | a0001c0001t0001g0017 a0001c0001t0001g0020 |
2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5901T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773081 | |||||||
chr5:177773089 | T | C | 2 | a0001c0001t0001g0017 a0001c0001t0001g0020 |
2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5909A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773089 | |||||||
chr5:177773095 | G | A | 2 | a0001c0001t0001g0017 a0001c0001t0001g0020 |
2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5915C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773095 | |||||||
chr5:177774371 | C | T | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-282+6078G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177774371 | |||||||
chr5:177774463 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-282+5986C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177774463 | |||||||
chr5:177775583 | G | C | 1 | a0001c0001t0003g0024 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-282+4866C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775583 | |||||||
chr5:177775640 | G | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+4809C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775640 | |||||||
chr5:177775960 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+4489G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775960 | |||||||
chr5:177776951 | T | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+3498A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177776951 | |||||||
chr5:177777349 | G | A | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+3100C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177777349 | |||||||
chr5:177777490 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-282+2959C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177777490 | |||||||
chr5:177778261 | T | TAA | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+2186_-282+218 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | |||||||
chr5:177778261 | T | TAAA | 11 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(8): Show |
12 | HG00639.hp2 HG01255.hp1 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.-282+2185_-282+218 others(7): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | |||||||
chr5:177778261 | TAA | T | 10 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(7): Show |
10 | HG00639.hp1 HG02071.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.-282+2186_-282+218 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | |||||||
chr5:177778406 | GA | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+2042delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778406 | |||||||
chr5:177778599 | GA | G | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+1849delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778599 | |||||||
chr5:177779289 | CGT | C | 23 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(20): Show |
24 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.-282+1158_-282+115 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779289 | |||||||
chr5:177779289 | CGTGT | C | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+1156_-282+115 others(8): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779289 | |||||||
chr5:177779626 | G | A | 23 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(20): Show |
24 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.-282+823C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779626 | |||||||
chr5:177780840 | C | T | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-337-336G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177780840 | |||||||
chr5:177781264 | A | AT | 4 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show |
4 | HG00621.hp2 HG01952.hp2 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.-337-761dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | |||||||
chr5:177781264 | A | ATT | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-337-762_-337-761d others(4): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | |||||||
chr5:177781264 | AT | A | 3 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0005c0004t0006g0025 |
3 | HG03831.hp1 HG03831.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-337-761delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | |||||||
chr5:177781264 | ATTTTTTT | A | 4 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(1): Show |
4 | HG02258.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-337-767_-337-761d others(9): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | |||||||
chr5:177781757 | C | T | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-338+986G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781757 | |||||||
chr5:177781761 | C | A | 24 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-338+982G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781761 | |||||||
chr5:177781780 | G | A | 3 | a0002c0002t0004g0009 a0002c0002t0004g0026 a0002c0002t0004g0027 |
3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-338+963C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781780 | |||||||
chr5:177781885 | A | AT | 6 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0030 others(3): Show |
6 | HG01255.hp1 HG01255.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-338+857dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781885 | |||||||
chr5:177781885 | AT | A | 4 | a0001c0001t0001g0034 a0002c0002t0004g0009 a0002c0002t0004g0026 others(1): Show |
4 | HG01952.hp2 HG02258.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-338+857delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781885 | |||||||
chr5:177782096 | C | T | 1 | a0002c0002t0004g0009 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-338+647G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782096 | |||||||
chr5:177782253 | T | C | 2 | a0001c0001t0001g0028 a0001c0001t0001g0029 |
2 | HG00621.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.-338+490A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782253 | |||||||
chr5:177782349 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-338+394G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782349 | |||||||
chr5:177782472 | C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-338+271G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782472 | |||||||
chr5:177782643 | T | TATCCAAC others(620): Show |
1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-338+99_-338+100in others(628): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 | |||||||
chr5:177782643 | T | TATCCAAC others(620): Show |
5 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(2): Show |
5 | HG01952.hp2 HG02258.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.-338+99_-338+100in others(628): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 | |||||||
chr5:177782643 | T | TATCCAAC others(582): Show |
1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-338+99_-338+100in others(590): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 |