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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   GPIHBP1_chr8_143208218_143222170  GPIHBP1_chr8_143208218_143222170 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 338328
ensemblid ENSG00000277494.2
hgncid 24945
symbol GPIHBP1
name glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
refseq_nuc NM_178172.6
refseq_prot NP_835466.2
ensembl_nuc ENST00000622500.2
ensembl_prot ENSP00000480053.1
mane_status MANE Select
chr chr8
start 143213218
end 143217170
strand +
ver v1.2
region chr8:143213218-143217170
region5000 chr8:143208218-143222170
regionname0 GPIHBP1_chr8_143213218_143217170
regionname5000 GPIHBP1_chr8_143208218_143222170

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0000 0/0 0 1 0 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001 0/1 184 69 34 7 15 3 9 10 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0002 1/0 184 21 5 4 9 1 1 6 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0003 0/0 184 15 15 0 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 555 35 24 2 4 0 5 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
c0002 1/0 555 21 5 4 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
c0003 0/1 555 17 9 1 4 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
c0004 0/0 555 17 1 4 7 2 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
c0005 0/0 555 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
c0006 0/0 544 1 0 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 1703 23 6 5 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0002 0/0 1707 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0003 0/0 1703 13 1 4 4 2 2 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0004 0/0 1702 13 6 1 3 0 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0005 0/1 1703 12 6 1 2 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0006 0/0 1703 11 11 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0007 0/0 1702 5 4 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0008 0/0 1703 2 2 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0009 0/0 1703 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0010 0/0 1703 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0011 0/0 1703 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0012 0/0 1640 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0013 0/0 1677 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0014 0/0 1703 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0015 0/0 1749 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0016 0/0 1723 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0017 0/0 1725 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0018 0/0 1702 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0019 0/0 1703 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
t0020 0/0 1873 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 1/0 20 3 5 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0002 0/1 16 8 1 4 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0003 0/0 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0004 0/0 14 1 4 4 2 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0005 0/0 11 11 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0006 0/0 9 1 1 3 0 4 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0007 0/0 7 6 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0008 0/0 3 3 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0009 0/0 2 0 0 2 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0010 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0011 0/0 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0012 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0013 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0014 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0015 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0016 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0017 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
g0018 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0000c0006 0/0 544 1 0 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001 0/0 555 35 24 2 4 0 5 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003 0/1 555 17 9 1 4 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004 0/0 555 17 1 4 7 2 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0002c0002 1/0 555 21 5 4 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0003c0005 0/0 555 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0000c0006t0001 0/0 2246 1 0 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0001 0/0 2257 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0004 0/0 2256 13 6 1 3 0 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0006 0/0 2257 11 11 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0007 0/0 2256 5 4 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0009 0/0 2257 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0014 0/0 2257 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0015 0/0 2303 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0018 0/0 2256 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0001t0020 0/0 2427 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003t0005 0/1 2257 12 6 1 2 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003t0008 0/0 2257 2 2 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003t0010 0/0 2257 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003t0012 0/0 2194 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0003t0013 0/0 2231 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004t0003 0/0 2257 13 1 4 4 2 2 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004t0011 0/0 2257 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004t0016 0/0 2277 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004t0017 0/0 2279 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0001c0004t0019 0/0 2257 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0002c0002t0001 1/0 2257 21 5 4 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170
a0003c0005t0002 0/0 2261 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 copy fasta chr8 143208218 143222170

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0000c0006t0001g0001 0/0 1 0 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0001g0010 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0004g0006 0/0 8 1 1 3 0 3 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0004g0007 0/0 2 2 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0004g0008 0/0 3 3 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0006g0005 0/0 10 10 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0006g0014 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0007g0007 0/0 5 4 1 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0009g0016 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0014g0012 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0015g0011 0/0 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0018g0006 0/0 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0001t0020g0005 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0005g0002 0/1 11 5 1 2 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0005g0018 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0008g0002 0/0 2 2 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0010g0002 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0012g0002 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0003t0013g0002 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0003g0004 0/0 11 1 4 2 2 2 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0003g0009 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0003g0013 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0011g0009 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0016g0004 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0017g0004 0/0 1 0 0 1 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0001c0004t0019g0004 0/0 1 0 0 0 0 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0002c0002t0001g0001 1/0 19 3 4 9 1 1 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0002c0002t0001g0015 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0002c0002t0001g0017 0/0 1 1 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
a0003c0005t0002g0003 0/0 15 15 0 0 0 0 GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0001 c0004 t0003 g0004 EUR FIN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG00280 hp2 a0002 c0002 t0001 g0001 EUR FIN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG00544 hp1 a0001 c0003 t0012 g0002 EAS CHS GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG00544 hp2 a0001 c0001 t0004 g0006 EAS CHS GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG00558 hp1 a0001 c0004 t0016 g0004 EAS CHS GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG00558 hp2 a0002 c0002 t0001 g0001 EAS CHS GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01175 hp1 a0002 c0002 t0001 g0001 AMR PUR GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01175 hp2 a0001 c0001 t0007 g0007 AMR PUR GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01258 hp1 a0002 c0002 t0001 g0001 AMR CLM GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01258 hp2 a0001 c0004 t0003 g0004 AMR CLM GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01934 hp1 a0001 c0001 t0004 g0006 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01934 hp2 a0001 c0003 t0005 g0002 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01952 hp1 a0000 c0006 t0001 g0001 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01952 hp2 a0001 c0004 t0003 g0004 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01993 hp1 a0002 c0002 t0001 g0001 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG01993 hp2 a0001 c0004 t0003 g0004 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02027 hp1 a0001 c0004 t0017 g0004 EAS KHV GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02027 hp2 a0001 c0004 t0011 g0009 EAS KHV GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02145 hp1 a0002 c0002 t0001 g0015 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02145 hp2 a0001 c0001 t0001 g0010 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02148 hp1 a0001 c0004 t0003 g0004 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02148 hp2 a0002 c0002 t0001 g0001 AMR PEL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02165 hp1 a0002 c0002 t0001 g0001 EAS CDX GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02165 hp2 a0002 c0002 t0001 g0001 EAS CDX GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02257 hp1 a0001 c0003 t0010 g0002 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02257 hp2 a0001 c0003 t0008 g0002 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02258 hp1 a0001 c0004 t0003 g0004 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02258 hp2 a0001 c0003 t0005 g0002 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02280 hp1 a0001 c0001 t0004 g0008 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02280 hp2 a0001 c0003 t0005 g0002 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02451 hp1 a0003 c0005 t0002 g0003 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02451 hp2 a0001 c0001 t0007 g0007 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02602 hp1 a0001 c0004 t0003 g0004 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02602 hp2 a0001 c0001 t0015 g0011 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02622 hp1 a0003 c0005 t0002 g0003 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02622 hp2 a0001 c0001 t0004 g0008 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02630 hp1 a0003 c0005 t0002 g0003 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02630 hp2 a0001 c0001 t0006 g0005 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02683 hp1 a0001 c0004 t0019 g0004 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02683 hp2 a0001 c0001 t0004 g0006 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02717 hp1 a0001 c0001 t0020 g0005 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02717 hp2 a0001 c0001 t0007 g0007 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02735 hp1 a0001 c0003 t0005 g0002 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02735 hp2 a0002 c0002 t0001 g0001 SAS PJL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02809 hp1 a0001 c0001 t0006 g0005 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02809 hp2 a0001 c0001 t0006 g0005 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02886 hp1 a0003 c0005 t0002 g0003 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02886 hp2 a0001 c0003 t0005 g0002 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02896 hp1 a0001 c0001 t0009 g0016 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02896 hp2 a0001 c0001 t0004 g0007 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02922 hp1 a0003 c0005 t0002 g0003 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02922 hp2 a0002 c0002 t0001 g0001 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02965 hp1 a0001 c0001 t0006 g0005 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02965 hp2 a0001 c0001 t0007 g0007 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03041 hp1 a0001 c0001 t0006 g0005 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03041 hp2 a0001 c0003 t0005 g0002 AFR GWD GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03130 hp1 a0002 c0002 t0001 g0017 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03130 hp2 a0003 c0005 t0002 g0003 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03195 hp1 a0001 c0001 t0004 g0007 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03195 hp2 a0001 c0001 t0007 g0007 AFR ESN GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03209 hp1 a0001 c0001 t0004 g0008 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03209 hp2 a0003 c0005 t0002 g0003 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03225 hp1 a0001 c0003 t0005 g0018 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03225 hp2 a0001 c0001 t0006 g0005 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03453 hp1 a0003 c0005 t0002 g0003 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03453 hp2 a0002 c0002 t0001 g0001 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03579 hp1 a0003 c0005 t0002 g0003 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03579 hp2 a0001 c0003 t0008 g0002 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03688 hp1 a0001 c0001 t0004 g0006 SAS STU GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03688 hp2 a0001 c0001 t0018 g0006 SAS STU GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG04204 hp1 a0001 c0004 t0003 g0004 SAS STU GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG04204 hp2 a0001 c0001 t0004 g0006 SAS STU GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18948 hp1 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18948 hp2 a0001 c0001 t0014 g0012 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18951 hp1 a0001 c0003 t0005 g0002 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18951 hp2 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18982 hp1 a0001 c0001 t0004 g0006 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA18982 hp2 a0001 c0001 t0004 g0006 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19004 hp1 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19004 hp2 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19005 hp1 a0001 c0004 t0003 g0013 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19005 hp2 a0001 c0003 t0013 g0002 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19012 hp1 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19012 hp2 a0001 c0004 t0003 g0009 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19030 hp1 a0001 c0001 t0006 g0005 AFR LWK GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19030 hp2 a0001 c0003 t0005 g0002 AFR LWK GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19064 hp1 a0001 c0004 t0003 g0004 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19064 hp2 a0002 c0002 t0001 g0001 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19088 hp1 a0001 c0003 t0005 g0002 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19088 hp2 a0001 c0004 t0003 g0004 EAS JPT GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19240 hp1 a0001 c0001 t0006 g0005 AFR YRI GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA19240 hp2 a0001 c0001 t0006 g0005 AFR YRI GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA20129 hp1 a0002 c0002 t0001 g0001 AFR ASW GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA20129 hp2 a0001 c0001 t0006 g0014 AFR ASW GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA20805 hp1 a0001 c0004 t0003 g0004 EUR TSI GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
NA20805 hp2 a0001 c0003 t0005 g0002 EUR TSI GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02109 hp1 a0003 c0005 t0002 g0003 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02109 hp2 a0001 c0001 t0006 g0005 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02486 hp1 a0003 c0005 t0002 g0003 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG02486 hp2 a0003 c0005 t0002 g0003 AFR ACB GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03471 hp1 a0003 c0005 t0002 g0003 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG03471 hp2 a0003 c0005 t0002 g0003 AFR MSL GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG06807 hp1 a0003 c0005 t0002 g0003 AFR USA GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
HG06807 hp2 a0001 c0001 t0004 g0006 AFR USA GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
homoSapiens_chm13v2 hp1 a0001 c0003 t0005 g0002 REF REF GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170
homoSapiens_grch38 hp1 a0002 c0002 t0001 g0001 REF REF GPIHBP1_chr8_143208218_143222170 GPIHBP1 chr8 143208218 143222170

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
chr8:143213308
T
T
 G
G
 2 a0001
a0003
a0001
a0003
 84 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(81): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG01175.hp2
HG01258.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp2
NA18951.hp1
NA18982.hp1
NA18982.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.41T>G
c.41T>G
 p.Phe14Cys
p.Phe14Cys
 GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/4 91/2257 41/555 14/184 chr8 143213308
chr8:143215063
AACCTGAC
others(4): Show 
AACCTGACGCAG
 A
A
 1 a0000
a0000
 1 HG01952.hp1
HG01952.hp1
 frameshift_variant HIGH c.234_244delCCTGACGC
others(3): Show 
c.234_244delCCTGACGCAGA
 p.Asn78fs
p.Asn78fs
 GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/4 284/2257 234/555 78/184 INFO_REALIGN_3_PRIME chr8 143215063
chr8:143215394
C
C
 T
T
 1 a0003
a0003
 15 HG02109.hp1
HG02451.hp1
HG02486.hp1
others(12): Show 
HG02109.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG06807.hp1
 missense_variant MODERATE c.431C>T
c.431C>T
 p.Ser144Phe
p.Ser144Phe
 GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 481/2257 431/555 144/184 chr8 143215394

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
chr8:143213279
C
C
 T
T
 1 a0001c0004
a0001c0004
 17 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(14): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02148.hp1
HG02258.hp1
HG02602.hp1
HG02683.hp1
HG04204.hp1
NA19005.hp1
NA19012.hp2
NA19064.hp1
NA19088.hp2
NA20805.hp1
 synonymous_variant LOW c.12C>T
c.12C>T
 p.Leu4Leu
p.Leu4Leu
 GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/4 62/2257 12/555 4/184 chr8 143213279
chr8:143213907
G
G
 T
T
 1 a0001c0003
a0001c0003
 17 HG00544.hp1
HG01934.hp2
HG02257.hp1
others(14): Show 
HG00544.hp1
HG01934.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02735.hp1
HG02886.hp2
HG03041.hp2
HG03225.hp1
HG03579.hp2
NA18951.hp1
NA19005.hp2
NA19030.hp2
NA19088.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.138G>T
c.138G>T
 p.Val46Val
p.Val46Val
 GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/4 188/2257 138/555 46/184 chr8 143213907

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
chr8:143215637
G
G
 A
A
 1 a0001c0001t0009
a0001c0001t0009
 1 HG02896.hp1
HG02896.hp1
 3_prime_UTR_variant MODIFIER c.*119G>A
c.*119G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 119 chr8 143215637
chr8:143215654
C
C
 T
T
 2 a0001c0001t0006
a0001c0001t0020
a0001c0001t0006
a0001c0001t0020
 12 HG02109.hp2
HG02630.hp2
HG02717.hp1
others(9): Show 
HG02109.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp2
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*136C>T
c.*136C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 136 chr8 143215654
chr8:143215771
C
C
 T
T
 1 a0001c0004t0019
a0001c0004t0019
 1 HG02683.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*253C>T
c.*253C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 253 chr8 143215771
chr8:143215792
T
T
 C
C
 15 a0001c0001t0006
a0001c0001t0009
a0001c0001t0014
others(12): Show 
a0001c0001t0006
a0001c0001t0009
a0001c0001t0014
a0001c0001t0015
a0001c0001t0020
a0001c0003t0005
a0001c0003t0008
a0001c0003t0010
a0001c0003t0012
a0001c0003t0013
a0001c0004t0003
a0001c0004t0011
a0001c0004t0016
a0001c0004t0017
a0001c0004t0019
 49 HG00280.hp1
HG00544.hp1
HG00558.hp1
others(46): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG01258.hp2
HG01934.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03579.hp2
HG04204.hp1
NA18948.hp2
NA18951.hp1
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*274T>C
c.*274T>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 274 chr8 143215792
chr8:143215898
C
C
 T
T
 4 a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
others(1): Show 
a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
a0001c0004t0019
 16 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(13): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02148.hp1
HG02258.hp1
HG02602.hp1
HG02683.hp1
HG04204.hp1
NA19005.hp1
NA19012.hp2
NA19064.hp1
NA19088.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*380C>T
c.*380C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 380 chr8 143215898
chr8:143215904
T
T
 C
C
 1 a0001c0003t0010
a0001c0003t0010
 1 HG02257.hp1
HG02257.hp1
 3_prime_UTR_variant MODIFIER c.*386T>C
c.*386T>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 386 chr8 143215904
chr8:143215912
G
G
 A
A
 4 a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
others(1): Show 
a0001c0004t0003
a0001c0004t0016
a0001c0004t0017
a0001c0004t0019
 16 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(13): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02148.hp1
HG02258.hp1
HG02602.hp1
HG02683.hp1
HG04204.hp1
NA19005.hp1
NA19012.hp2
NA19064.hp1
NA19088.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*394G>A
c.*394G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 394 chr8 143215912
chr8:143216105
C
C
 CGGGGGGG
others(39): Show 
CGGGGGGGGGGGCTGGGGGGACAGGCACCAAGTATGAAGAGGATCGG
 1 a0001c0001t0015
a0001c0001t0015
 1 HG02602.hp2
HG02602.hp2
 3_prime_UTR_variant MODIFIER c.*596_*597insGGCTGG
others(40): Show 
c.*596_*597insGGCTGGGGGGACAGGCACCAAGTATGAAGAGGATCG
GGGGGGGGGG
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 597 INFO_REALIGN_3_PRIME chr8 143216105
chr8:143216110
G
G
 C
C
 8 a0001c0001t0006
a0001c0001t0009
a0001c0001t0020
others(5): Show 
a0001c0001t0006
a0001c0001t0009
a0001c0001t0020
a0001c0004t0003
a0001c0004t0011
a0001c0004t0016
a0001c0004t0017
a0001c0004t0019
 30 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(27): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp2
HG02148.hp1
HG02258.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03225.hp2
HG04204.hp1
NA19005.hp1
NA19012.hp2
NA19030.hp1
NA19064.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*592G>C
c.*592G>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 592 chr8 143216110
chr8:143216162
T
T
 TGTCTGGC
others(15): Show 
TGTCTGGCTGTGGCGTGAGCACC
 1 a0001c0004t0017
a0001c0004t0017
 1 HG02027.hp1
HG02027.hp1
 3_prime_UTR_variant MODIFIER c.*652_*653insGTGGCG
others(16): Show 
c.*652_*653insGTGGCGTGAGCACCGTCTGGCT
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 653 INFO_REALIGN_3_PRIME chr8 143216162
chr8:143216171
A
A
 G
G
 6 a0001c0001t0009
a0001c0004t0003
a0001c0004t0011
others(3): Show 
a0001c0001t0009
a0001c0004t0003
a0001c0004t0011
a0001c0004t0016
a0001c0004t0017
a0001c0004t0019
 18 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(15): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02148.hp1
HG02258.hp1
HG02602.hp1
HG02683.hp1
HG02896.hp1
HG04204.hp1
NA19005.hp1
NA19012.hp2
NA19064.hp1
NA19088.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*653A>G
c.*653A>G
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 653 chr8 143216171
chr8:143216175
C
C
 T
T
 3 a0001c0001t0007
a0001c0001t0014
a0001c0001t0015
a0001c0001t0007
a0001c0001t0014
a0001c0001t0015
 7 HG01175.hp2
HG02451.hp2
HG02602.hp2
others(4): Show 
HG01175.hp2
HG02451.hp2
HG02602.hp2
HG02717.hp2
HG02965.hp2
HG03195.hp2
NA18948.hp2
 3_prime_UTR_variant MODIFIER c.*657C>T
c.*657C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 657 chr8 143216175
chr8:143216198
C
C
 CTGGCTTG
others(163): Show 
CTGGCTTGGAAAGTGAACTTGCAGCCTTGGATGGGGAAGGGCCAGATGCT
GGGTGGGTGCCTGTCACCTTGAGGTGACCATCTAGGGTCAGTACCTGCTG
GGCTTAGGACAGCGCCTGAGGCTGGGAATACCTGTCTCTGCTCTAGCAGA
GGCTAAAGCAGGCTAGAGCAG
 1 a0001c0001t0020
a0001c0001t0020
 1 HG02717.hp1
HG02717.hp1
 3_prime_UTR_variant MODIFIER c.*684_*853dupCTTGGA
others(164): Show 
c.*684_*853dupCTTGGAAAGTGAACTTGCAGCCTTGGATGGGGAAGG
GCCAGATGCTGGGTGGGTGCCTGTCACCTTGAGGTGACCATCTAGGGTCA
GTACCTGCTGGGCTTAGGACAGCGCCTGAGGCTGGGAATACCTGTCTCTG
CTCTAGCAGAGGCTAAAGCAGGCTAGAGCAGTGG
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 854 INFO_REALIGN_3_PRIME chr8 143216198
chr8:143216284
GT
GT
 G
G
 3 a0001c0001t0004
a0001c0001t0007
a0001c0001t0018
a0001c0001t0004
a0001c0001t0007
a0001c0001t0018
 19 HG00544.hp2
HG01175.hp2
HG01934.hp1
others(16): Show 
HG00544.hp2
HG01175.hp2
HG01934.hp1
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02896.hp2
HG02965.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03688.hp1
HG03688.hp2
HG04204.hp2
HG06807.hp2
NA18982.hp1
NA18982.hp2
 3_prime_UTR_variant MODIFIER c.*767delT
c.*767delT
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 767 chr8 143216284
chr8:143216353
A
A
 ATTAG
ATTAG
 1 a0003c0005t0002
a0003c0005t0002
 15 HG02109.hp1
HG02451.hp1
HG02486.hp1
others(12): Show 
HG02109.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*835_*836insTTAG
c.*835_*836insTTAG
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 836 chr8 143216353
chr8:143216406
A
A
 AGATGGAA
others(13): Show 
AGATGGAATTTTTCCAGCCTC
 1 a0001c0004t0016
a0001c0004t0016
 1 HG00558.hp1
HG00558.hp1
 3_prime_UTR_variant MODIFIER c.*889_*908dupGATGGA
others(14): Show 
c.*889_*908dupGATGGAATTTTTCCAGCCTC
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 909 INFO_REALIGN_3_PRIME chr8 143216406
chr8:143216522
G
G
 A
A
 1 a0001c0001t0018
a0001c0001t0018
 1 HG03688.hp2
HG03688.hp2
 3_prime_UTR_variant MODIFIER c.*1004G>A
c.*1004G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 1004 chr8 143216522
chr8:143216538
G
G
 A
A
 1 a0001c0003t0008
a0001c0003t0008
 2 HG02257.hp2
HG03579.hp2
HG02257.hp2
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*1020G>A
c.*1020G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 1020 chr8 143216538
chr8:143216659
TTCACCAG
others(56): Show 
TTCACCAGTAGCTGGTGCCAGGACAGAGCTCTGGGACAGCAGGCAGAGGC
CGAGCCTGGGCCAC
 T
T
 1 a0001c0003t0012
a0001c0003t0012
 1 HG00544.hp1
HG00544.hp1
 3_prime_UTR_variant MODIFIER c.*1142_*1204delTCAC
others(59): Show 
c.*1142_*1204delTCACCAGTAGCTGGTGCCAGGACAGAGCTCTGGG
ACAGCAGGCAGAGGCCGAGCCTGGGCCAC
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 1142 chr8 143216659
chr8:143216705
AGGCCGAG
others(19): Show 
AGGCCGAGCCTGGGCCACAGCTCAGCC
 A
A
 1 a0001c0003t0013
a0001c0003t0013
 1 NA19005.hp2
NA19005.hp2
 3_prime_UTR_variant MODIFIER c.*1188_*1213delGGCC
others(22): Show 
c.*1188_*1213delGGCCGAGCCTGGGCCACAGCTCAGCC
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 4/4 1188 chr8 143216705

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
chr8:143213446
G
G
 C
C
 7 a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0007
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0007
a0001c0001t0004g0008
a0001c0001t0007g0007
a0001c0001t0018g0006
a0003c0005t0002g0003
 35 HG00544.hp2
HG01175.hp2
HG01934.hp1
others(32): Show 
HG00544.hp2
HG01175.hp2
HG01934.hp1
HG02109.hp1
HG02145.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18982.hp1
NA18982.hp2
 intron_variant MODIFIER c.52+127G>C
c.52+127G>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/3 chr8 143213446
chr8:143213459
G
G
 A
A
 2 a0001c0001t0014g0012
a0001c0001t0015g0011
a0001c0001t0014g0012
a0001c0001t0015g0011
 2 HG02602.hp2
NA18948.hp2
HG02602.hp2
NA18948.hp2
 intron_variant MODIFIER c.52+140G>A
c.52+140G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/3 chr8 143213459
chr8:143213588
CGGCTGCA
others(50): Show 
CGGCTGCAGGACAGTGAGTAGGGTGAGTAGGGTAGTAGGACAGTGAGTAG
GGTGAGTA
 C
C
 6 a0001c0003t0005g0002
a0001c0003t0005g0018
a0001c0003t0008g0002
others(3): Show 
a0001c0003t0005g0002
a0001c0003t0005g0018
a0001c0003t0008g0002
a0001c0003t0010g0002
a0001c0003t0012g0002
a0001c0003t0013g0002
 17 HG00544.hp1
HG01934.hp2
HG02257.hp1
others(14): Show 
HG00544.hp1
HG01934.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02735.hp1
HG02886.hp2
HG03041.hp2
HG03225.hp1
HG03579.hp2
NA18951.hp1
NA19005.hp2
NA19030.hp2
NA19088.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.53-201_53-145delAG
others(55): Show 
c.53-201_53-145delAGTAGGACAGTGAGTAGGGTGAGTAGGCTGCA
GGACAGTGAGTAGGGTGAGTAGGGT
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/3 INFO_REALIGN_3_PRIME chr8 143213588
chr8:143213623
TAGGACAG
others(21): Show 
TAGGACAGTGAGTAGGGTGAGTAGGCTGC
 T
T
 2 a0001c0001t0014g0012
a0001c0001t0015g0011
a0001c0001t0014g0012
a0001c0001t0015g0011
 2 HG02602.hp2
NA18948.hp2
HG02602.hp2
NA18948.hp2
 intron_variant MODIFIER c.53-174_53-147delCT
others(26): Show 
c.53-174_53-147delCTGCAGGACAGTGAGTAGGGTGAGTAGG
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/3 INFO_REALIGN_3_PRIME chr8 143213623
chr8:143213687
A
A
 G
G
 1 a0002c0002t0001g0017
a0002c0002t0001g0017
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.53-135A>G
c.53-135A>G
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 1/3 chr8 143213687
chr8:143214242
A
A
 G
G
 7 a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0009g0016
a0001c0001t0020g0005
a0002c0002t0001g0015
a0003c0005t0002g0003
 30 HG02109.hp1
HG02109.hp2
HG02145.hp1
others(27): Show 
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG06807.hp1
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.181+292A>G
c.181+292A>G
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214242
chr8:143214255
C
C
 T
T
 1 a0001c0004t0003g0013
a0001c0004t0003g0013
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.181+305C>T
c.181+305C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214255
chr8:143214366
AGAGCAGA
others(59): Show 
AGAGCAGAGCAGAGTAGGGCTAAGAAGAGCCCACCCTCACTGCCCACCTG
ACACACCCCTACACGTG
 A
A
 1 a0001c0001t0009g0016
a0001c0001t0009g0016
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.181+418_181+483del
others(66): Show 
c.181+418_181+483delAGCAGAGCAGAGTAGGGCTAAGAAGAGCCC
ACCCTCACTGCCCACCTGACACACCCCTACACGTGG
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 INFO_REALIGN_3_PRIME chr8 143214366
chr8:143214389
G
G
 C
C
 3 a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
 12 HG02109.hp2
HG02630.hp2
HG02717.hp1
others(9): Show 
HG02109.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp2
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.181+439G>C
c.181+439G>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214389
chr8:143214477
C
C
 T
T
 2 a0001c0001t0014g0012
a0001c0001t0015g0011
a0001c0001t0014g0012
a0001c0001t0015g0011
 2 HG02602.hp2
NA18948.hp2
HG02602.hp2
NA18948.hp2
 intron_variant MODIFIER c.181+527C>T
c.181+527C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214477
chr8:143214526
GTGCCCCA
others(36): Show 
GTGCCCCACCACACACAGCCCCTCCCTAGCCAGGGCCCCCAGCA
 G
G
 3 a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
 12 HG02109.hp2
HG02630.hp2
HG02717.hp1
others(9): Show 
HG02109.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp2
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.182-466_182-424del
others(43): Show 
c.182-466_182-424delCTCCCTAGCCAGGGCCCCCAGCATGCCCCA
CCACACACAGCCC
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 INFO_REALIGN_3_PRIME chr8 143214526
chr8:143214605
G
G
 C
C
 12 a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
others(9): Show 
a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
a0001c0004t0003g0004
a0001c0004t0003g0009
a0001c0004t0003g0013
a0001c0004t0011g0009
a0001c0004t0016g0004
a0001c0004t0017g0004
a0001c0004t0019g0004
a0003c0005t0002g0003
 45 HG00280.hp1
HG00558.hp1
HG01258.hp2
others(42): Show 
HG00280.hp1
HG00558.hp1
HG01258.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG04204.hp1
HG06807.hp1
NA19005.hp1
NA19012.hp2
NA19030.hp1
NA19064.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.182-408G>C
c.182-408G>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214605
chr8:143214626
C
C
 T
T
 2 a0001c0001t0004g0006
a0001c0001t0018g0006
a0001c0001t0004g0006
a0001c0001t0018g0006
 9 HG00544.hp2
HG01934.hp1
HG02683.hp2
others(6): Show 
HG00544.hp2
HG01934.hp1
HG02683.hp2
HG03688.hp1
HG03688.hp2
HG04204.hp2
HG06807.hp2
NA18982.hp1
NA18982.hp2
 intron_variant MODIFIER c.182-387C>T
c.182-387C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214626
chr8:143214680
G
G
 C
C
 2 a0001c0001t0014g0012
a0001c0001t0015g0011
a0001c0001t0014g0012
a0001c0001t0015g0011
 2 HG02602.hp2
NA18948.hp2
HG02602.hp2
NA18948.hp2
 intron_variant MODIFIER c.182-333G>C
c.182-333G>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214680
chr8:143214762
C
C
 G
G
 11 a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
others(8): Show 
a0001c0001t0001g0010
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0020g0005
a0001c0003t0005g0002
a0001c0003t0005g0018
a0001c0003t0008g0002
a0001c0003t0010g0002
a0001c0003t0012g0002
a0001c0003t0013g0002
a0003c0005t0002g0003
 45 HG00544.hp1
HG01934.hp2
HG02109.hp1
others(42): Show 
HG00544.hp1
HG01934.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18951.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.182-251C>G
c.182-251C>G
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214762
chr8:143214805
G
G
 A
A
 1 a0001c0001t0006g0014
a0001c0001t0006g0014
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.182-208G>A
c.182-208G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214805
chr8:143214891
G
G
 A
A
 1 a0001c0001t0015g0011
a0001c0001t0015g0011
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.182-122G>A
c.182-122G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 2/3 chr8 143214891
chr8:143215136
C
C
 T
T
 2 a0001c0004t0003g0009
a0001c0004t0011g0009
a0001c0004t0003g0009
a0001c0004t0011g0009
 2 HG02027.hp2
NA19012.hp2
HG02027.hp2
NA19012.hp2
 intron_variant MODIFIER c.295+10C>T
c.295+10C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/3 chr8 143215136
chr8:143215145
G
G
 A
A
 1 a0003c0005t0002g0003
a0003c0005t0002g0003
 15 HG02109.hp1
HG02451.hp1
HG02486.hp1
others(12): Show 
HG02109.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.295+19G>A
c.295+19G>A
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/3 chr8 143215145
chr8:143215153
T
T
 C
C
 26 a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0007
others(23): Show 
a0001c0001t0001g0010
a0001c0001t0004g0006
a0001c0001t0004g0007
a0001c0001t0004g0008
a0001c0001t0006g0005
a0001c0001t0006g0014
a0001c0001t0007g0007
a0001c0001t0009g0016
a0001c0001t0014g0012
a0001c0001t0015g0011
a0001c0001t0018g0006
a0001c0001t0020g0005
a0001c0003t0005g0002
a0001c0003t0005g0018
a0001c0003t0008g0002
a0001c0003t0010g0002
a0001c0003t0012g0002
a0001c0003t0013g0002
a0001c0004t0003g0004
a0001c0004t0003g0009
a0001c0004t0003g0013
a0001c0004t0011g0009
a0001c0004t0016g0004
a0001c0004t0017g0004
a0001c0004t0019g0004
a0003c0005t0002g0003
 84 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(81): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG01175.hp2
HG01258.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp2
NA18951.hp1
NA18982.hp1
NA18982.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.295+27T>C
c.295+27T>C
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/3 chr8 143215153
chr8:143215177
CA
CA
 C
C
 2 a0001c0001t0004g0007
a0001c0001t0007g0007
a0001c0001t0004g0007
a0001c0001t0007g0007
 7 HG01175.hp2
HG02451.hp2
HG02717.hp2
others(4): Show 
HG01175.hp2
HG02451.hp2
HG02717.hp2
HG02896.hp2
HG02965.hp2
HG03195.hp1
HG03195.hp2
 intron_variant MODIFIER c.295+52delA
c.295+52delA
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/3 chr8 143215177
chr8:143215185
C
C
 T
T
 1 a0001c0003t0005g0018
a0001c0003t0005g0018
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.295+59C>T
c.295+59C>T
GPIHBP1 ENSG00000277494.2 transcript ENST00000622500.2 protein_coding 3/3 chr8 143215185

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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