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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SEMG2_chr20_45216373_45229458  SEMG2_chr20_45216373_45229458 (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 6407
ensemblid ENSG00000124157.7
hgncid 10743
symbol SEMG2
name semenogelin 2
refseq_nuc NM_003008.3
refseq_prot NP_002999.1
ensembl_nuc ENST00000372769.4
ensembl_prot ENSP00000361855.3
mane_status MANE Select
chr chr20
start 45221373
end 45224458
strand +
ver v1.2
region chr20:45221373-45224458
region5000 chr20:45216373-45229458
regionname0 SEMG2_chr20_45221373_45224458
regionname5000 SEMG2_chr20_45216373_45229458

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 582 266 57 53 114 11 29 87 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0002 0/0 582 46 13 15 16 0 2 14 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0003 0/0 582 29 8 8 7 2 4 4 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0004 0/0 582 11 11 0 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0005 0/0 582 4 4 0 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0006 0/0 582 1 1 0 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0007 0/0 474 1 1 0 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0008 0/0 582 1 0 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0009 0/0 582 1 0 0 0 0 1 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0010 0/0 582 1 1 0 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0011 0/0 582 1 0 0 1 0 0 1 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1749 265 57 52 114 11 29 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0002 0/0 1749 46 13 15 16 0 2 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0003 0/0 1749 29 8 8 7 2 4 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0004 0/0 1749 11 11 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0005 0/0 1749 4 4 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0006 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0007 0/0 1749 1 0 0 0 0 1 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0008 0/0 1749 1 0 0 0 1 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0009 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0010 0/0 1749 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0011 0/0 1749 1 0 1 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
c0012 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 230 362 96 76 138 14 36 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 1/1 238 33 48 113 12 30 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0002 0/0 47 14 15 16 0 2 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0003 0/0 38 35 3 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0004 0/0 28 7 8 7 2 4 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0005 0/0 5 5 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0006 0/0 2 0 2 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0007 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0008 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0009 0/0 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
g0010 0/0 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1749 265 57 52 114 11 29 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0001c0011 0/0 1749 1 0 1 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0002c0002 0/0 1749 46 13 15 16 0 2 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0003c0003 0/0 1749 29 8 8 7 2 4 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0004c0004 0/0 1749 11 11 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0005c0005 0/0 1749 4 4 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0006c0006 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0007c0009 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0008c0008 0/0 1749 1 0 0 0 1 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0009c0007 0/0 1749 1 0 0 0 0 1 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0010c0012 0/0 1749 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0011c0010 0/0 1749 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 1978 265 57 52 114 11 29 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0001c0011t0001 0/0 1978 1 0 1 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0002c0002t0001 0/0 1978 46 13 15 16 0 2 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0003c0003t0001 0/0 1978 29 8 8 7 2 4 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0004c0004t0001 0/0 1978 11 11 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0005c0005t0001 0/0 1978 4 4 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0006c0006t0001 0/0 1978 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0007c0009t0001 0/0 1978 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0008c0008t0001 0/0 1978 1 0 0 0 1 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0009c0007t0001 0/0 1978 1 0 0 0 0 1 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0010c0012t0001 0/0 1978 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458
a0011c0010t0001 0/0 1978 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 copy fasta chr20 45216373 45229458

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 1/1 235 33 48 112 11 29 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0001c0001t0001g0003 0/0 26 24 2 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0001c0001t0001g0006 0/0 2 0 2 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0001c0001t0001g0009 0/0 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0001c0001t0001g0010 0/0 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0001c0011t0001g0003 0/0 1 0 1 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0002c0002t0001g0002 0/0 46 13 15 16 0 2 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0003c0003t0001g0004 0/0 28 7 8 7 2 4 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0003c0003t0001g0008 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0004c0004t0001g0003 0/0 11 11 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0005c0005t0001g0005 0/0 4 4 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0006c0006t0001g0005 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0007c0009t0001g0007 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0008c0008t0001g0001 0/0 1 0 0 0 1 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0009c0007t0001g0001 0/0 1 0 0 0 0 1 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0010c0012t0001g0002 0/0 1 1 0 0 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
a0011c0010t0001g0001 0/0 1 0 0 1 0 0 SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0003 c0003 t0001 g0004 EUR GBR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00140 hp1 a0001 c0001 t0001 g0001 EUR GBR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00140 hp2 a0008 c0008 t0001 g0001 EUR GBR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00280 hp2 a0001 c0001 t0001 g0001 EUR FIN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00323 hp1 a0003 c0003 t0001 g0004 EUR FIN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00323 hp2 a0001 c0001 t0001 g0001 EUR FIN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00423 hp1 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00423 hp2 a0001 c0001 t0001 g0009 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00438 hp1 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00438 hp2 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00558 hp1 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00558 hp2 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00597 hp1 a0003 c0003 t0001 g0004 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00597 hp2 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00642 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00673 hp1 a0001 c0001 t0001 g0001 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00673 hp2 a0002 c0002 t0001 g0002 EAS CHS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00733 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00733 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00735 hp1 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00735 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00738 hp1 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00738 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00741 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG00741 hp2 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01069 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01069 hp2 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01070 hp1 a0001 c0001 t0001 g0006 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01070 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01071 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01071 hp2 a0001 c0001 t0001 g0006 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01074 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01074 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01081 hp1 a0001 c0011 t0001 g0003 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01081 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01099 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01099 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01106 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01106 hp2 a0002 c0002 t0001 g0002 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01109 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01109 hp2 a0002 c0002 t0001 g0002 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01167 hp1 a0002 c0002 t0001 g0002 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01167 hp2 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01168 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01168 hp2 a0002 c0002 t0001 g0002 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01169 hp1 a0002 c0002 t0001 g0002 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01169 hp2 a0003 c0003 t0001 g0004 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01175 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01175 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01192 hp1 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01192 hp2 a0001 c0001 t0001 g0001 AMR PUR SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01255 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01255 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01256 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01256 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01257 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01257 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01258 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01258 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01261 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01261 hp2 a0001 c0001 t0001 g0003 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01346 hp1 a0002 c0002 t0001 g0002 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01346 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01358 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01358 hp2 a0001 c0001 t0001 g0003 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01433 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01433 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01496 hp1 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01496 hp2 a0001 c0001 t0001 g0001 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01516 hp1 a0001 c0001 t0001 g0001 EUR IBS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01516 hp2 a0001 c0001 t0001 g0001 EUR IBS SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01884 hp1 a0001 c0001 t0001 g0003 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01884 hp2 a0003 c0003 t0001 g0004 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01891 hp1 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01891 hp2 a0001 c0001 t0001 g0003 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01928 hp1 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01928 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01943 hp1 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01943 hp2 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01952 hp1 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01952 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01975 hp1 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01978 hp1 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01978 hp2 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02004 hp1 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02004 hp2 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02015 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02015 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02027 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02027 hp2 a0003 c0003 t0001 g0004 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02040 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02040 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02055 hp1 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02055 hp2 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02056 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02056 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02080 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02080 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02132 hp1 a0002 c0002 t0001 g0002 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02132 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02135 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02135 hp2 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02145 hp1 a0002 c0002 t0001 g0002 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02145 hp2 a0002 c0002 t0001 g0002 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02148 hp1 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02148 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02155 hp1 a0001 c0001 t0001 g0001 EAS CDX SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02155 hp2 a0001 c0001 t0001 g0001 EAS CDX SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02165 hp1 a0001 c0001 t0001 g0001 EAS CDX SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02165 hp2 a0001 c0001 t0001 g0001 EAS CDX SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02257 hp1 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02257 hp2 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02258 hp1 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02258 hp2 a0005 c0005 t0001 g0005 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02273 hp1 a0002 c0002 t0001 g0002 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02273 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02280 hp1 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02280 hp2 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02293 hp1 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02293 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02300 hp1 a0003 c0003 t0001 g0004 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02300 hp2 a0001 c0001 t0001 g0001 AMR PEL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02451 hp1 a0001 c0001 t0001 g0003 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02451 hp2 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02523 hp1 a0001 c0001 t0001 g0001 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02523 hp2 a0003 c0003 t0001 g0004 EAS KHV SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02572 hp1 a0004 c0004 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02572 hp2 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02602 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02602 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02615 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02615 hp2 a0004 c0004 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02622 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02622 hp2 a0001 c0001 t0001 g0001 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02630 hp1 a0004 c0004 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02630 hp2 a0007 c0009 t0001 g0007 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02647 hp1 a0001 c0001 t0001 g0001 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02647 hp2 a0002 c0002 t0001 g0002 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02683 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02683 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02717 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02717 hp2 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02723 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02723 hp2 a0003 c0003 t0001 g0004 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02735 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02735 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02738 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02738 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02809 hp1 a0004 c0004 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02809 hp2 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02818 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02818 hp2 a0005 c0005 t0001 g0005 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02886 hp1 a0002 c0002 t0001 g0002 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02886 hp2 a0001 c0001 t0001 g0001 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02895 hp1 a0004 c0004 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02895 hp2 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02896 hp1 a0003 c0003 t0001 g0004 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02896 hp2 a0002 c0002 t0001 g0002 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02897 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02897 hp2 a0003 c0003 t0001 g0004 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02922 hp1 a0003 c0003 t0001 g0008 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02922 hp2 a0002 c0002 t0001 g0002 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02965 hp1 a0001 c0001 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02965 hp2 a0004 c0004 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02970 hp1 a0001 c0001 t0001 g0001 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02970 hp2 a0006 c0006 t0001 g0005 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02976 hp1 a0001 c0001 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02976 hp2 a0002 c0002 t0001 g0002 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03041 hp1 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03041 hp2 a0001 c0001 t0001 g0003 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03098 hp1 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03098 hp2 a0002 c0002 t0001 g0002 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03139 hp1 a0001 c0001 t0001 g0001 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03139 hp2 a0001 c0001 t0001 g0001 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03195 hp1 a0004 c0004 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03195 hp2 a0001 c0001 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03209 hp1 a0001 c0001 t0001 g0003 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03209 hp2 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03225 hp1 a0001 c0001 t0001 g0003 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03225 hp2 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03453 hp1 a0001 c0001 t0001 g0003 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03453 hp2 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03486 hp1 a0002 c0002 t0001 g0002 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03486 hp2 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03490 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03490 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03491 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03491 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03492 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03492 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03516 hp1 a0001 c0001 t0001 g0001 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03516 hp2 a0004 c0004 t0001 g0003 AFR ESN SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03540 hp1 a0003 c0003 t0001 g0004 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03540 hp2 a0001 c0001 t0001 g0001 AFR GWD SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03579 hp1 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03579 hp2 a0001 c0001 t0001 g0001 AFR MSL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03669 hp1 a0003 c0003 t0001 g0004 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03669 hp2 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03704 hp1 a0001 c0001 t0001 g0001 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03704 hp2 a0002 c0002 t0001 g0002 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03710 hp1 a0002 c0002 t0001 g0002 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03710 hp2 a0003 c0003 t0001 g0004 SAS PJL SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03831 hp1 a0009 c0007 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03831 hp2 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03927 hp1 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03927 hp2 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03942 hp1 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG03942 hp2 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04184 hp1 a0001 c0001 t0001 g0001 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04184 hp2 a0003 c0003 t0001 g0004 SAS BEB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04199 hp1 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04199 hp2 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04204 hp1 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04204 hp2 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04228 hp1 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG04228 hp2 a0001 c0001 t0001 g0001 SAS STU SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18522 hp1 a0010 c0012 t0001 g0002 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18522 hp2 a0001 c0001 t0001 g0001 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18747 hp1 a0001 c0001 t0001 g0001 EAS CHB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18747 hp2 a0001 c0001 t0001 g0001 EAS CHB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18906 hp1 a0005 c0005 t0001 g0005 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18906 hp2 a0002 c0002 t0001 g0002 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18940 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18940 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18942 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18942 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18945 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18945 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18947 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18947 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18950 hp1 a0001 c0001 t0001 g0010 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18950 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18952 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18952 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18957 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18957 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18961 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18961 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18967 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18967 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18968 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18968 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18969 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18969 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18970 hp1 a0011 c0010 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18970 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18971 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18971 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18975 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18975 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18977 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18977 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18979 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18979 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18981 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18981 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18985 hp1 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18985 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18986 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18986 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18989 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18989 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18990 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18990 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18992 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18992 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18993 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18993 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18997 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18997 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18998 hp1 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18998 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18999 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18999 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19000 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19000 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19001 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19001 hp2 a0003 c0003 t0001 g0004 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19002 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19002 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19003 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19003 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19004 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19004 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19005 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19005 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19006 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19006 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19007 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19007 hp2 a0003 c0003 t0001 g0004 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19009 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19009 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19011 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19011 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19030 hp1 a0001 c0001 t0001 g0001 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19030 hp2 a0002 c0002 t0001 g0002 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19043 hp1 a0001 c0001 t0001 g0001 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19043 hp2 a0001 c0001 t0001 g0003 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19057 hp1 a0003 c0003 t0001 g0004 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19057 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19060 hp1 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19060 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19064 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19066 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19066 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19068 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19068 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19070 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19070 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19072 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19072 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19074 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19074 hp2 a0003 c0003 t0001 g0004 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19075 hp1 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19075 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19077 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19077 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19079 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19079 hp2 a0002 c0002 t0001 g0002 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19083 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19083 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19085 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19085 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19088 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19088 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19089 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19089 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19091 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19091 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19240 hp1 a0004 c0004 t0001 g0003 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA19240 hp2 a0001 c0001 t0001 g0001 AFR YRI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20129 hp1 a0001 c0001 t0001 g0003 AFR ASW SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20129 hp2 a0003 c0003 t0001 g0004 AFR ASW SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20752 hp1 a0001 c0001 t0001 g0001 EUR TSI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20752 hp2 a0001 c0001 t0001 g0001 EUR TSI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20805 hp1 a0001 c0001 t0001 g0001 EUR TSI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20805 hp2 a0001 c0001 t0001 g0001 EUR TSI SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20905 hp1 a0001 c0001 t0001 g0001 SAS GIH SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20905 hp2 a0003 c0003 t0001 g0004 SAS GIH SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01123 hp1 a0003 c0003 t0001 g0004 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG01123 hp2 a0002 c0002 t0001 g0002 AMR CLM SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02109 hp1 a0004 c0004 t0001 g0003 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02109 hp2 a0001 c0001 t0001 g0001 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02486 hp1 a0002 c0002 t0001 g0002 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02486 hp2 a0005 c0005 t0001 g0005 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02559 hp1 a0004 c0004 t0001 g0003 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG02559 hp2 a0003 c0003 t0001 g0004 AFR ACB SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG06807 hp1 a0001 c0001 t0001 g0003 AFR USA SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
HG06807 hp2 a0001 c0001 t0001 g0001 AFR USA SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18955 hp1 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA18955 hp2 a0001 c0001 t0001 g0001 EAS JPT SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA20300 hp2 a0002 c0002 t0001 g0002 AFR USA SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA21309 hp1 a0001 c0001 t0001 g0001 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
NA21309 hp2 a0001 c0001 t0001 g0001 AFR LWK SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0001 REF REF SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0001 REF REF SEMG2_chr20_45216373_45229458 SEMG2 chr20 45216373 45229458

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
chr20:45221759 C
C
 A
A
 1 a0003
a0003
 29 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(26): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02300.hp1
HG02523.hp2
HG02559.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 missense_variant MODERATE c.127C>A
c.127C>A
 p.Gln43Lys
p.Gln43Lys
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 144/1978 127/1749 43/582 chr20 45221759
chr20:45221801 A
A
 G
G
 1 a0004
a0004
 11 HG02109.hp1
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02109.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03195.hp1
HG03516.hp2
NA19240.hp1
 missense_variant MODERATE c.169A>G
c.169A>G
 p.Thr57Ala
p.Thr57Ala
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 186/1978 169/1749 57/582 chr20 45221801
chr20:45222347 C
C
 T
T
 1 a0011
a0011
 1 NA18970.hp1
NA18970.hp1
 missense_variant MODERATE c.715C>T
c.715C>T
 p.His239Tyr
p.His239Tyr
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 732/1978 715/1749 239/582 chr20 45222347
chr20:45222453 G
G
 A
A
 4 a0003
a0005
a0006
others(1): Show 
a0003
a0005
a0006
a0007
 35 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(32): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02258.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA18906.hp1
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 missense_variant MODERATE c.821G>A
c.821G>A
 p.Ser274Asn
p.Ser274Asn
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 838/1978 821/1749 274/582 chr20 45222453
chr20:45222467 C
C
 T
T
 1 a0002
a0002
 46 HG00673.hp2
HG01106.hp2
HG01109.hp2
others(43): Show 
HG00673.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01928.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02273.hp1
HG02486.hp1
HG02647.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03486.hp1
HG03704.hp2
HG03710.hp1
NA18906.hp2
NA18942.hp2
NA18961.hp2
NA18977.hp2
NA18985.hp1
NA18993.hp2
NA18998.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19060.hp1
NA19068.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA20300.hp2
 missense_variant MODERATE c.835C>T
c.835C>T
 p.His279Tyr
p.His279Tyr
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 852/1978 835/1749 279/582 chr20 45222467
chr20:45222506 C
C
 T
T
 1 a0008
a0008
 1 HG00140.hp2
HG00140.hp2
 missense_variant MODERATE c.874C>T
c.874C>T
 p.Arg292Cys
p.Arg292Cys
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 891/1978 874/1749 292/582 chr20 45222506
chr20:45222734 G
G
 C
C
 2 a0002
a0010
a0002
a0010
 47 HG00673.hp2
HG01106.hp2
HG01109.hp2
others(44): Show 
HG00673.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01928.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02273.hp1
HG02486.hp1
HG02647.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03486.hp1
HG03704.hp2
HG03710.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18961.hp2
NA18977.hp2
NA18985.hp1
NA18993.hp2
NA18998.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19060.hp1
NA19068.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA20300.hp2
 missense_variant MODERATE c.1102G>C
c.1102G>C
 p.Gly368Arg
p.Gly368Arg
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 1119/1978 1102/1749 368/582 chr20 45222734
chr20:45222882 G
G
 A
A
 1 a0006
a0006
 1 HG02970.hp2
HG02970.hp2
 missense_variant MODERATE c.1250G>A
c.1250G>A
 p.Arg417His
p.Arg417His
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 1267/1978 1250/1749 417/582 chr20 45222882
chr20:45223055 G
G
 T
T
 1 a0007
a0007
 1 HG02630.hp2
HG02630.hp2
 stop_gained HIGH c.1423G>T
c.1423G>T
 p.Glu475*
p.Glu475*
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 1440/1978 1423/1749 475/582 chr20 45223055
chr20:45223126 T
T
 G
G
 1 a0009
a0009
 1 HG03831.hp1
HG03831.hp1
 missense_variant MODERATE c.1494T>G
c.1494T>G
 p.Ile498Met
p.Ile498Met
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 1511/1978 1494/1749 498/582 chr20 45223126

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
chr20:45221734 C
C
 T
T
 1 a0010c0012
a0010c0012
 1 NA18522.hp1
NA18522.hp1
 synonymous_variant LOW c.102C>T
c.102C>T
 p.Ser34Ser
p.Ser34Ser
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 119/1978 102/1749 34/582 chr20 45221734
chr20:45221863 C
C
 T
T
 1 a0001c0011
a0001c0011
 1 HG01081.hp1
HG01081.hp1
 synonymous_variant LOW c.231C>T
c.231C>T
 p.Asp77Asp
p.Asp77Asp
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 248/1978 231/1749 77/582 chr20 45221863
chr20:45221884 A
A
 G
G
 1 a0003c0003
a0003c0003
 29 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(26): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02300.hp1
HG02523.hp2
HG02559.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 synonymous_variant LOW c.252A>G
c.252A>G
 p.Gln84Gln
p.Gln84Gln
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 269/1978 252/1749 84/582 chr20 45221884
chr20:45222400 C
C
 T
T
 1 a0007c0009
a0007c0009
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.768C>T
c.768C>T
 p.Thr256Thr
p.Thr256Thr
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 785/1978 768/1749 256/582 chr20 45222400
chr20:45222460 T
T
 C
C
 3 a0005c0005
a0006c0006
a0007c0009
a0005c0005
a0006c0006
a0007c0009
 6 HG02258.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02258.hp2
HG02486.hp2
HG02630.hp2
HG02818.hp2
HG02970.hp2
NA18906.hp1
 synonymous_variant LOW c.828T>C
c.828T>C
 p.Asp276Asp
p.Asp276Asp
 SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/3 845/1978 828/1749 276/582 chr20 45222460

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

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
chr20:45221502 T
T
 A
A
 5 a0003c0003t0001g0004
a0003c0003t0001g0008
a0005c0005t0001g0005
others(2): Show 
a0003c0003t0001g0004
a0003c0003t0001g0008
a0005c0005t0001g0005
a0006c0006t0001g0005
a0007c0009t0001g0007
 35 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(32): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02258.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA18906.hp1
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.76+37T>A
c.76+37T>A
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 1/2 chr20 45221502
chr20:45223602 C
C
 A
A
 10 a0001c0001t0001g0003
a0001c0011t0001g0003
a0002c0002t0001g0002
others(7): Show 
a0001c0001t0001g0003
a0001c0011t0001g0003
a0002c0002t0001g0002
a0003c0003t0001g0004
a0003c0003t0001g0008
a0004c0004t0001g0003
a0005c0005t0001g0005
a0006c0006t0001g0005
a0007c0009t0001g0007
a0010c0012t0001g0002
 120 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(117): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02027.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18961.hp2
NA18977.hp2
NA18985.hp1
NA18993.hp2
NA18998.hp1
NA19001.hp2
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19068.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.*44+177C>A
c.*44+177C>A
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223602
chr20:45223602 C
C
 T
T
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.*44+177C>T
c.*44+177C>T
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223602
chr20:45223793 A
A
 G
G
 1 a0003c0003t0001g0008
a0003c0003t0001g0008
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.*44+368A>G
c.*44+368A>G
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223793
chr20:45223802 A
A
 T
T
 2 a0003c0003t0001g0004
a0003c0003t0001g0008
a0003c0003t0001g0004
a0003c0003t0001g0008
 29 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(26): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02300.hp1
HG02523.hp2
HG02559.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.*44+377A>T
c.*44+377A>T
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223802
chr20:45223813 A
A
 T
T
 2 a0003c0003t0001g0004
a0003c0003t0001g0008
a0003c0003t0001g0004
a0003c0003t0001g0008
 29 HG00099.hp1
HG00323.hp1
HG00597.hp1
others(26): Show 
HG00099.hp1
HG00323.hp1
HG00597.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01884.hp2
HG02027.hp2
HG02300.hp1
HG02523.hp2
HG02559.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
NA19001.hp2
NA19007.hp2
NA19057.hp1
NA19074.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.*44+388A>T
c.*44+388A>T
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223813
chr20:45223825 C
C
 A
A
 2 a0002c0002t0001g0002
a0010c0012t0001g0002
a0002c0002t0001g0002
a0010c0012t0001g0002
 47 HG00673.hp2
HG01106.hp2
HG01109.hp2
others(44): Show 
HG00673.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01928.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02273.hp1
HG02486.hp1
HG02647.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03486.hp1
HG03704.hp2
HG03710.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18961.hp2
NA18977.hp2
NA18985.hp1
NA18993.hp2
NA18998.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19060.hp1
NA19068.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA20300.hp2
 intron_variant MODIFIER c.*44+400C>A
c.*44+400C>A
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223825
chr20:45223994 G
G
 A
A
 1 a0007c0009t0001g0007
a0007c0009t0001g0007
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.*45-297G>A
c.*45-297G>A
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45223994
chr20:45224142 A
A
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 2 HG01070.hp1
HG01071.hp2
HG01070.hp1
HG01071.hp2
 intron_variant MODIFIER c.*45-149A>G
c.*45-149A>G
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45224142
chr20:45224191 T
T
 C
C
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.*45-100T>C
c.*45-100T>C
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45224191
chr20:45224246 A
A
 G
G
 3 a0005c0005t0001g0005
a0006c0006t0001g0005
a0007c0009t0001g0007
a0005c0005t0001g0005
a0006c0006t0001g0005
a0007c0009t0001g0007
 6 HG02258.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02258.hp2
HG02486.hp2
HG02630.hp2
HG02818.hp2
HG02970.hp2
NA18906.hp1
 intron_variant MODIFIER c.*45-45A>G
c.*45-45A>G
SEMG2 ENSG00000124157.7 transcript ENST00000372769.4 protein_coding 2/2 chr20 45224246

  • 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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