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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   BCKDK_chr16_31103386_31117791  BCKDK_chr16_31103386_31117791 (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 10295
ensemblid ENSG00000103507.14
hgncid 16902
symbol BCKDK
name branched chain keto acid dehydrogenase kinase
refseq_nuc NM_005881.4
refseq_prot NP_005872.2
ensembl_nuc ENST00000219794.11
ensembl_prot ENSP00000219794.6
mane_status MANE Select
chr chr16
start 31108386
end 31112791
strand +
ver v1.2
region chr16:31108386-31112791
region5000 chr16:31103386-31117791
regionname0 BCKDK_chr16_31108386_31112791
regionname5000 BCKDK_chr16_31103386_31117791

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 412 295 87 68 98 12 28 62 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0002 0/0 412 2 2 0 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0003 0/0 412 1 0 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0004 0/0 412 1 1 0 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0005 0/0 412 1 0 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1239 179 77 42 24 9 25 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
c0002 0/0 1239 116 10 26 74 3 3 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
c0003 0/0 1239 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
c0004 0/0 1239 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
c0005 0/0 1239 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
c0006 0/0 1239 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 798 296 88 68 98 12 28 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
t0002 0/0 798 2 0 2 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
t0003 0/0 798 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
t0004 0/0 798 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/1 154 31 42 64 9 7 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0002 0/0 115 40 27 24 3 21 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0003 0/0 6 6 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0004 1/0 6 4 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0005 0/0 4 0 0 4 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0006 0/0 3 3 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0007 0/0 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0008 0/0 2 0 1 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0009 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0010 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0011 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0012 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0013 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0014 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0015 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
g0016 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1239 179 77 42 24 9 25 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0001c0002 0/0 1239 116 10 26 74 3 3 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0002c0003 0/0 1239 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0003c0004 0/0 1239 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0004c0006 0/0 1239 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0005c0005 0/0 1239 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 2036 175 75 40 24 9 25 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0001c0001t0002 0/0 2036 2 0 2 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0001c0001t0003 0/0 2036 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0001c0001t0004 0/0 2036 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0001c0002t0001 0/0 2036 116 10 26 74 3 3 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0002c0003t0001 0/0 2036 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0003c0004t0001 0/0 2036 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0004c0006t0001 0/0 2036 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791
a0005c0005t0001 0/0 2036 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK copy fasta chr16 31103386 31117791

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/1 50 23 16 0 6 4 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0002 0/0 109 37 24 24 3 21 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0003 0/0 6 6 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0004 1/0 4 3 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0007 0/0 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0012 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0013 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0014 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0001g0015 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0002g0002 0/0 2 0 2 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0003g0002 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0001t0004g0001 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0001 0/0 102 7 25 64 3 3 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0004 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0005 0/0 4 0 0 4 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0006 0/0 3 3 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0008 0/0 2 0 1 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0009 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0010 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0011 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0001c0002t0001g0016 0/0 1 0 0 1 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0002c0003t0001g0002 0/0 2 2 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0003c0004t0001g0002 0/0 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0004c0006t0001g0004 0/0 1 1 0 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
a0005c0005t0001g0001 0/0 1 0 1 0 0 0 BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0001 EUR GBR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00323 hp1 a0001 c0001 t0001 g0001 EUR FIN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00323 hp2 a0001 c0002 t0001 g0001 EUR FIN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00408 hp1 a0001 c0001 t0001 g0002 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00408 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00438 hp1 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00438 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00558 hp1 a0001 c0001 t0001 g0002 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00558 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00597 hp1 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00597 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00609 hp1 a0001 c0002 t0001 g0010 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00609 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00639 hp1 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00639 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00642 hp1 a0001 c0001 t0002 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00673 hp1 a0001 c0001 t0001 g0002 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00673 hp2 a0001 c0002 t0001 g0001 EAS CHS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00735 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00735 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00738 hp1 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00738 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00741 hp1 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG00741 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01069 hp1 a0001 c0001 t0002 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01069 hp2 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01070 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01070 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01071 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01071 hp2 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01074 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01074 hp2 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01099 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01099 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01106 hp1 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01106 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01109 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01109 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01167 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01167 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01168 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01168 hp2 a0001 c0001 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01169 hp1 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01169 hp2 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01175 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01175 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01192 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01192 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01243 hp1 a0001 c0001 t0001 g0002 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01243 hp2 a0001 c0002 t0001 g0001 AMR PUR BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01255 hp1 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01255 hp2 a0001 c0001 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01256 hp1 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01256 hp2 a0005 c0005 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01257 hp1 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01257 hp2 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01258 hp1 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01258 hp2 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01261 hp1 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01261 hp2 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01346 hp1 a0001 c0001 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01346 hp2 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01361 hp1 a0001 c0001 t0001 g0002 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01361 hp2 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01496 hp1 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01496 hp2 a0001 c0001 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01515 hp1 a0001 c0001 t0001 g0001 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01515 hp2 a0001 c0002 t0001 g0001 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01516 hp1 a0001 c0001 t0001 g0001 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01516 hp2 a0001 c0001 t0001 g0002 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01517 hp1 a0001 c0002 t0001 g0001 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01517 hp2 a0001 c0001 t0001 g0002 EUR IBS BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01884 hp1 a0001 c0001 t0001 g0003 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01884 hp2 a0001 c0001 t0004 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01891 hp1 a0001 c0001 t0001 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01891 hp2 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01934 hp1 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01934 hp2 a0001 c0002 t0001 g0008 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01952 hp1 a0003 c0004 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01952 hp2 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01975 hp1 a0001 c0002 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01975 hp2 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01978 hp1 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01978 hp2 a0001 c0002 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01981 hp1 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01981 hp2 a0001 c0001 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01993 hp1 a0001 c0002 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01993 hp2 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02040 hp1 a0001 c0001 t0001 g0002 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02040 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02055 hp1 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02055 hp2 a0001 c0001 t0003 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02056 hp1 a0001 c0001 t0001 g0002 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02056 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02074 hp1 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02074 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02080 hp1 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02080 hp2 a0001 c0002 t0001 g0011 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02083 hp1 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02083 hp2 a0001 c0001 t0001 g0002 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02129 hp1 a0001 c0002 t0001 g0005 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02129 hp2 a0001 c0001 t0001 g0002 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02132 hp1 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02132 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02135 hp1 a0001 c0002 t0001 g0005 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02135 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02145 hp1 a0001 c0001 t0001 g0004 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02145 hp2 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02155 hp1 a0001 c0002 t0001 g0001 EAS CDX BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02155 hp2 a0001 c0002 t0001 g0001 EAS CDX BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02165 hp1 a0001 c0002 t0001 g0005 EAS CDX BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02165 hp2 a0001 c0002 t0001 g0001 EAS CDX BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02257 hp1 a0001 c0002 t0001 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02257 hp2 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02258 hp1 a0001 c0001 t0001 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02258 hp2 a0001 c0001 t0001 g0015 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02273 hp1 a0001 c0001 t0001 g0002 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02273 hp2 a0001 c0002 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02280 hp1 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02280 hp2 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02300 hp1 a0001 c0001 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02300 hp2 a0001 c0002 t0001 g0001 AMR PEL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02451 hp1 a0001 c0002 t0001 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02451 hp2 a0001 c0002 t0001 g0001 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02523 hp1 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02523 hp2 a0001 c0002 t0001 g0001 EAS KHV BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02572 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02572 hp2 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02602 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02602 hp2 a0001 c0001 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02615 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02615 hp2 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02630 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02630 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02647 hp1 a0004 c0006 t0001 g0004 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02647 hp2 a0001 c0001 t0001 g0003 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02698 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02698 hp2 a0001 c0002 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02717 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02717 hp2 a0001 c0002 t0001 g0006 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02723 hp1 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02723 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02735 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02735 hp2 a0001 c0001 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02738 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02738 hp2 a0001 c0001 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02809 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02809 hp2 a0001 c0001 t0001 g0003 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02818 hp1 a0001 c0001 t0001 g0012 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02818 hp2 a0001 c0002 t0001 g0006 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02886 hp1 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02886 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02895 hp1 a0001 c0001 t0001 g0003 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02895 hp2 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02896 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02896 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02897 hp1 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02897 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02922 hp1 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02922 hp2 a0001 c0001 t0001 g0007 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02965 hp1 a0001 c0001 t0001 g0003 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02965 hp2 a0001 c0001 t0001 g0001 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03041 hp1 a0001 c0001 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03041 hp2 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03098 hp1 a0001 c0002 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03098 hp2 a0001 c0001 t0001 g0002 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03130 hp1 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03130 hp2 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03139 hp1 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03139 hp2 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03195 hp1 a0001 c0001 t0001 g0002 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03195 hp2 a0001 c0001 t0001 g0001 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03209 hp1 a0001 c0001 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03209 hp2 a0001 c0001 t0001 g0002 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03225 hp1 a0001 c0001 t0001 g0002 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03225 hp2 a0001 c0001 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03453 hp1 a0001 c0001 t0001 g0002 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03453 hp2 a0001 c0001 t0001 g0004 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03486 hp1 a0001 c0001 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03486 hp2 a0001 c0001 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03516 hp1 a0001 c0001 t0001 g0001 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03516 hp2 a0001 c0001 t0001 g0013 AFR ESN BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03540 hp1 a0001 c0001 t0001 g0002 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03540 hp2 a0001 c0002 t0001 g0001 AFR GWD BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03579 hp1 a0001 c0001 t0001 g0003 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03579 hp2 a0001 c0001 t0001 g0001 AFR MSL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03654 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03654 hp2 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03669 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03669 hp2 a0001 c0002 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03710 hp1 a0001 c0001 t0001 g0002 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03710 hp2 a0001 c0001 t0001 g0001 SAS PJL BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03831 hp1 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03831 hp2 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03927 hp1 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03927 hp2 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03942 hp1 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG03942 hp2 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04184 hp1 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04184 hp2 a0001 c0001 t0001 g0002 SAS BEB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04204 hp1 a0001 c0001 t0001 g0002 SAS STU BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04204 hp2 a0001 c0001 t0001 g0002 SAS STU BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04228 hp1 a0001 c0001 t0001 g0002 SAS STU BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG04228 hp2 a0001 c0001 t0001 g0002 SAS STU BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18522 hp1 a0001 c0001 t0001 g0002 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18522 hp2 a0001 c0001 t0001 g0001 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18747 hp1 a0001 c0001 t0001 g0002 EAS CHB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18747 hp2 a0001 c0002 t0001 g0001 EAS CHB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18906 hp1 a0001 c0001 t0001 g0007 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18906 hp2 a0001 c0001 t0001 g0002 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18939 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18939 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18945 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18945 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18950 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18950 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18952 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18952 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18960 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18960 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18961 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18961 hp2 a0001 c0002 t0001 g0009 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18963 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18963 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18965 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18965 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18967 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18967 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18970 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18970 hp2 a0001 c0002 t0001 g0005 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18972 hp1 a0001 c0002 t0001 g0016 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18972 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18973 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18973 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18974 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18974 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18980 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18980 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18981 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18981 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18983 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18983 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18984 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18984 hp2 a0001 c0002 t0001 g0004 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18986 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18986 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18995 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18995 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18998 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA18998 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19002 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19002 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19004 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19004 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19011 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19011 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19012 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19012 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19030 hp1 a0001 c0002 t0001 g0006 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19030 hp2 a0001 c0001 t0001 g0001 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19043 hp1 a0001 c0001 t0001 g0004 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19043 hp2 a0001 c0001 t0001 g0002 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19057 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19057 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19063 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19063 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19064 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19064 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19085 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19085 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19087 hp1 a0001 c0002 t0001 g0008 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19087 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19088 hp1 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19088 hp2 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19091 hp1 a0001 c0001 t0001 g0002 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19091 hp2 a0001 c0002 t0001 g0001 EAS JPT BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19240 hp1 a0001 c0001 t0001 g0002 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA19240 hp2 a0002 c0003 t0001 g0002 AFR YRI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20129 hp1 a0001 c0002 t0001 g0001 AFR ASW BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20129 hp2 a0001 c0001 t0001 g0001 AFR ASW BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20752 hp1 a0001 c0001 t0001 g0002 EUR TSI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20752 hp2 a0001 c0001 t0001 g0001 EUR TSI BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20905 hp1 a0001 c0001 t0001 g0002 SAS GIH BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20905 hp2 a0001 c0002 t0001 g0001 SAS GIH BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01123 hp1 a0001 c0002 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG01123 hp2 a0001 c0001 t0001 g0001 AMR CLM BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02486 hp1 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02486 hp2 a0001 c0001 t0001 g0014 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02559 hp1 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG02559 hp2 a0001 c0001 t0001 g0002 AFR ACB BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG06807 hp1 a0001 c0001 t0001 g0001 AFR USA BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
HG06807 hp2 a0001 c0001 t0001 g0002 AFR USA BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA20300 hp2 a0002 c0003 t0001 g0002 AFR USA BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA21309 hp1 a0001 c0001 t0001 g0001 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
NA21309 hp2 a0001 c0002 t0001 g0001 AFR LWK BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0001 REF REF BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0004 REF REF BCKDK_chr16_31103386_31117791 BCKDK chr16 31103386 31117791

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
chr16:31109276 G
G
 A
A
 1 a0003
a0003
 1 HG01952.hp1
HG01952.hp1
 missense_variant MODERATE c.53G>A
c.53G>A
 p.Arg18Gln
p.Arg18Gln
 BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 2/12 324/2036 53/1239 18/412 chr16 31109276
chr16:31109404 G
G
 T
T
 1 a0002
a0002
 2 NA19240.hp2
NA20300.hp2
NA19240.hp2
NA20300.hp2
 missense_variant MODERATE c.181G>T
c.181G>T
 p.Ala61Ser
p.Ala61Ser
 BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 2/12 452/2036 181/1239 61/412 chr16 31109404
chr16:31110093 G
G
 T
T
 1 a0004
a0004
 1 HG02647.hp1
HG02647.hp1
 missense_variant MODERATE c.392G>T
c.392G>T
 p.Arg131Leu
p.Arg131Leu
 BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 5/12 663/2036 392/1239 131/412 chr16 31110093
chr16:31111999 A
A
 T
T
 1 a0005
a0005
 1 HG01256.hp2
HG01256.hp2
 missense_variant MODERATE c.1066A>T
c.1066A>T
 p.Ser356Cys
p.Ser356Cys
 BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 11/12 1337/2036 1066/1239 356/412 chr16 31111999

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
chr16:31110472 G
G
 A
A
 2 a0001c0002
a0005c0005
a0001c0002
a0005c0005
 117 HG00323.hp2
HG00408.hp2
HG00438.hp1
others(114): Show 
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp2
HG01993.hp1
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03540.hp2
HG03669.hp2
NA18747.hp2
NA18939.hp1
NA18945.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19057.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.615G>A
c.615G>A
 p.Thr205Thr
p.Thr205Thr
 BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 7/12 886/2036 615/1239 205/412 chr16 31110472

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
chr16:31109187 A
A
 T
T
 1 a0001c0001t0004
a0001c0001t0004
 1 HG01884.hp2
HG01884.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-37A>T
c.-37A>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 2/12 chr16 31109187
chr16:31109199 C
C
 T
T
 1 a0001c0001t0003
a0001c0001t0003
 1 HG02055.hp2
HG02055.hp2
 5_prime_UTR_variant MODIFIER c.-25C>T
c.-25C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 2/12 25 chr16 31109199
chr16:31112472 G
G
 C
C
 1 a0001c0001t0002
a0001c0001t0002
 2 HG00642.hp1
HG01069.hp1
HG00642.hp1
HG01069.hp1
 3_prime_UTR_variant MODIFIER c.*207G>C
c.*207G>C
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 12/12 207 chr16 31112472

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
chr16:31108595 C
C
 G
G
 1 a0001c0002t0001g0016
a0001c0002t0001g0016
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.-178+116C>G
c.-178+116C>G
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 1/11 chr16 31108595
chr16:31108698 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 3 HG02717.hp2
HG02818.hp2
NA19030.hp1
HG02717.hp2
HG02818.hp2
NA19030.hp1
 intron_variant MODIFIER c.-178+219T>C
c.-178+219T>C
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 1/11 chr16 31108698
chr16:31109451 G
G
 A
A
 1 a0001c0002t0001g0005
a0001c0002t0001g0005
 4 HG02129.hp1
HG02135.hp1
HG02165.hp1
others(1): Show 
HG02129.hp1
HG02135.hp1
HG02165.hp1
NA18970.hp2
 intron_variant MODIFIER c.195+33G>A
c.195+33G>A
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 2/11 chr16 31109451
chr16:31110656 G
G
 A
A
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 6 HG01884.hp1
HG02647.hp2
HG02809.hp2
others(3): Show 
HG01884.hp1
HG02647.hp2
HG02809.hp2
HG02895.hp1
HG02965.hp1
HG03579.hp1
 intron_variant MODIFIER c.643-32G>A
c.643-32G>A
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 7/11 chr16 31110656
chr16:31110671 C
C
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.643-17C>G
c.643-17C>G
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 7/11 chr16 31110671
chr16:31110833 G
G
 A
A
 1 a0001c0002t0001g0009
a0001c0002t0001g0009
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.716+72G>A
c.716+72G>A
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 8/11 chr16 31110833
chr16:31110908 C
C
 T
T
 22 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(19): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0002g0002
a0001c0001t0003g0002
a0001c0001t0004g0001
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0011
a0001c0002t0001g0016
a0002c0003t0001g0002
a0003c0004t0001g0002
a0005c0005t0001g0001
 294 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(291): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.716+147C>T
c.716+147C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 8/11 chr16 31110908
chr16:31111055 A
A
 G
G
 1 a0001c0001t0001g0014
a0001c0001t0001g0014
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.717-36A>G
c.717-36A>G
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 8/11 chr16 31111055
chr16:31111229 C
C
 T
T
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.845+10C>T
c.845+10C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 9/11 chr16 31111229
chr16:31111250 C
C
 T
T
 8 a0001c0001t0001g0002
a0001c0001t0001g0012
a0001c0001t0001g0013
others(5): Show 
a0001c0001t0001g0002
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0002g0002
a0001c0001t0003g0002
a0002c0003t0001g0002
a0003c0004t0001g0002
 118 HG00408.hp1
HG00558.hp1
HG00642.hp1
others(115): Show 
HG00408.hp1
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18945.hp2
NA18952.hp2
NA18965.hp1
NA18974.hp2
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18995.hp2
NA19002.hp1
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA19063.hp2
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.845+31C>T
c.845+31C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 9/11 chr16 31111250
chr16:31111292 C
C
 T
T
 1 a0001c0002t0001g0011
a0001c0002t0001g0011
 1 HG02080.hp2
HG02080.hp2
 splice_region_variant&intron_variant LOW c.846-8C>T
c.846-8C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 9/11 chr16 31111292
chr16:31111418 G
G
 A
A
 1 a0001c0001t0001g0012
a0001c0001t0001g0012
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.935+29G>A
c.935+29G>A
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 10/11 chr16 31111418
chr16:31111544 G
G
 A
A
 2 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0007
a0001c0001t0001g0015
 3 HG02258.hp2
HG02922.hp2
NA18906.hp1
HG02258.hp2
HG02922.hp2
NA18906.hp1
 intron_variant MODIFIER c.935+155G>A
c.935+155G>A
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 10/11 chr16 31111544
chr16:31111656 C
C
 T
T
 1 a0001c0002t0001g0010
a0001c0002t0001g0010
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.936-213C>T
c.936-213C>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 10/11 chr16 31111656
chr16:31111711 G
G
 T
T
 1 a0001c0002t0001g0008
a0001c0002t0001g0008
 2 HG01934.hp2
NA19087.hp1
HG01934.hp2
NA19087.hp1
 intron_variant MODIFIER c.936-158G>T
c.936-158G>T
BCKDK ENSG00000103507.14 transcript ENST00000219794.11 protein_coding 10/11 chr16 31111711

  • 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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