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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   COL6A2_chr21_46093112_46134801  COL6A2_chr21_46093112_46134801 (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 1292
ensemblid ENSG00000142173.17
hgncid 2212
symbol COL6A2
name collagen type VI alpha 2 chain
refseq_nuc NM_058174.3
refseq_prot NP_478054.2
ensembl_nuc ENST00000397763.6
ensembl_prot ENSP00000380870.1
mane_status MANE Plus Clinical
chr chr21
start 46098112
end 46129801
strand +
ver v1.2
region chr21:46098112-46129801
region5000 chr21:46093112-46134801
regionname0 COL6A2_chr21_46098112_46129801
regionname5000 COL6A2_chr21_46093112_46134801

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 36 256 42 52 125 11 25 99 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002 1/0 918 58 22 4 13 3 15 4 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003 0/0 918 48 18 6 18 3 3 13 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0004 0/0 918 3 3 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0005 0/0 918 2 0 0 1 1 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0006 0/0 918 2 2 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0007 0/0 918 1 0 0 1 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0008 0/0 918 1 0 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0009 0/0 918 1 1 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 2752 104 4 22 63 2 12 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0002 0/0 2752 83 8 11 55 4 5 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0003 1/0 2757 46 11 4 13 3 14 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0004 0/0 2757 28 15 4 7 1 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0005 0/0 2752 25 6 11 0 4 4 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0006 0/0 2752 15 13 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0007 0/0 2757 14 1 1 8 2 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0008 0/0 2757 9 9 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0009 0/0 2752 6 4 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0010 0/0 2752 2 0 0 0 0 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0011 0/0 2752 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0012 0/0 2752 2 1 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0013 0/0 2752 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0014 0/0 2752 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0015 0/0 2757 2 0 0 1 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0016 0/0 2757 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0017 0/0 2757 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0018 0/0 2757 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0019 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0020 0/0 2752 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0021 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0022 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0023 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0024 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0025 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0026 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0027 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0028 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0029 0/0 2752 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0030 0/0 2752 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0031 0/0 2752 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0032 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0033 0/0 2757 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0034 0/0 2757 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0035 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0036 0/0 2757 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0037 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0038 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0039 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0040 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0041 0/0 2757 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
c0042 0/0 2757 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 400 151 19 39 68 6 18 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0002 0/0 400 85 11 4 65 0 5 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0003 1/0 400 49 15 4 10 5 14 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0004 0/0 400 18 10 4 2 1 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0005 0/0 400 15 14 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0006 0/0 400 14 13 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0007 0/0 400 13 0 2 6 3 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0008 0/0 400 9 4 1 1 0 3 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0009 0/0 400 7 0 4 0 3 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0010 0/0 400 4 0 3 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0011 0/0 400 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0012 0/0 400 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0013 0/0 400 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0014 0/0 400 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0015 0/0 400 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
t0016 0/0 400 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 9 0 1 7 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0002 0/0 4 0 0 4 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0003 0/0 4 0 0 4 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0004 0/0 3 0 2 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0005 0/0 3 0 3 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0006 0/0 3 0 0 3 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0007 0/0 2 0 1 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0008 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0009 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0010 0/0 2 0 1 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0011 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0012 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0013 0/0 2 0 0 0 2 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0014 0/0 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0015 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0016 0/0 2 0 0 0 0 2 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0017 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0018 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0019 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0020 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0021 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0022 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0023 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0024 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0025 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0026 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0027 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0028 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0029 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0030 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0031 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0032 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0033 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0034 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0035 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0036 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0037 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0038 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0039 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0040 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0041 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0042 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0043 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0044 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0045 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0046 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0047 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0048 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0049 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0050 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0051 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0052 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0053 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0054 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0055 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0056 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0057 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0058 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0059 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0060 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0061 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0062 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0063 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0064 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0065 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0066 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0067 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0068 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0069 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0070 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0071 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0072 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0073 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0074 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0075 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0076 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0077 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0078 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0079 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0080 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0081 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0082 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0083 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0084 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0085 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0086 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0087 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0088 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0089 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0090 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0091 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0092 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0093 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0094 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0095 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0096 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0097 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0098 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0099 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0100 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0101 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0102 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0103 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0104 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0105 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0106 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0107 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0108 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0109 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0110 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0111 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0112 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0113 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0114 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0115 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0116 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0117 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0118 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0119 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0120 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0121 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0122 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0123 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0124 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0125 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0126 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0127 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0128 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0129 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0130 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0131 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0132 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0133 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0134 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0135 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0136 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0137 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0138 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0139 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0140 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0141 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0142 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0143 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0144 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0145 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0146 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0147 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0148 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0149 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0150 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0151 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0152 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0153 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0154 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0155 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0156 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0157 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0158 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0159 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0160 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0161 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0162 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0163 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0164 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0165 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0166 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0167 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0168 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0169 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0170 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0171 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0172 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0173 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0174 0/1 1 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0175 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0176 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0177 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0178 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0179 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0180 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0181 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0182 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0183 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0184 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0185 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0186 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0187 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0188 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0189 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0190 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0191 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0192 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0193 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0194 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0195 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0196 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0197 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0198 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0199 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0200 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0201 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0202 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0203 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0204 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0205 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0206 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0207 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0208 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0209 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0210 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0211 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0212 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0213 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0214 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0215 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0216 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0217 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0218 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0219 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0220 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0221 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0222 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0223 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0224 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0225 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0226 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0227 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0228 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0229 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0230 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0231 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0232 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0233 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0234 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0235 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0236 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0237 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0238 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0239 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0240 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0241 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0242 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0243 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0244 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0245 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0246 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0247 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0248 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0249 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0250 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0251 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0252 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0253 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0254 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0255 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0256 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0257 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0258 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0259 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0260 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0261 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0262 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0263 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0264 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0265 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0266 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0267 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0268 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0269 1/0 1 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0270 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0271 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0272 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0273 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0274 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0275 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0276 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0277 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0278 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0279 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0280 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0281 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0282 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0283 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0284 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0285 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0286 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0287 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0288 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0289 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0290 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0291 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0292 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0293 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0294 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0295 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0296 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0297 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0298 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0299 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0300 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0301 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0302 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0303 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0304 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0305 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0306 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0307 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0308 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0309 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0310 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0311 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0312 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0313 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0314 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0315 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0316 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0317 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0318 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0319 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0320 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0321 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0322 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0323 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0324 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0325 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0326 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0327 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0328 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0329 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0330 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0331 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0332 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0333 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0334 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0335 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0336 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0337 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
g0338 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 2752 104 4 22 63 2 12 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002 0/0 2752 83 8 11 55 4 5 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0005 0/0 2752 25 6 11 0 4 4 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0006 0/0 2752 15 13 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0009 0/0 2752 6 4 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0010 0/0 2752 2 0 0 0 0 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0011 0/0 2752 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0012 0/0 2752 2 1 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0013 0/0 2752 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0014 0/0 2752 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0019 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0020 0/0 2752 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0021 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0022 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0023 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0024 0/0 2752 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0025 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0026 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0027 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0028 0/0 2752 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0029 0/0 2752 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0030 0/0 2752 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0031 0/0 2752 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003 1/0 2757 46 11 4 13 3 14 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0008 0/0 2757 9 9 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0034 0/0 2757 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0039 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0040 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004 0/0 2757 28 15 4 7 1 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0007 0/0 2757 14 1 1 8 2 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0017 0/0 2757 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0018 0/0 2757 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0033 0/0 2757 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0041 0/0 2757 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0004c0016 0/0 2757 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0004c0035 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0005c0015 0/0 2757 2 0 0 1 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0006c0037 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0006c0038 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0007c0042 0/0 2757 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0008c0036 0/0 2757 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0009c0032 0/0 2757 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 3151 104 4 22 63 2 12 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0002 0/0 3151 68 8 4 52 0 4 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0005 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0007 0/0 3151 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0009 0/0 3151 7 0 4 0 3 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0010 0/0 3151 4 0 3 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0012 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0002t0013 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0005t0001 0/0 3151 20 4 11 0 2 3 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0005t0002 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0005t0003 0/0 3151 4 1 0 0 2 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0006t0005 0/0 3151 7 7 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0006t0006 0/0 3151 7 6 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0006t0008 0/0 3151 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0009t0001 0/0 3151 6 4 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0010t0001 0/0 3151 2 0 0 0 0 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0011t0001 0/0 3151 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0012t0001 0/0 3151 2 1 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0013t0002 0/0 3151 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0014t0002 0/0 3151 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0019t0002 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0020t0001 0/0 3151 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0021t0001 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0022t0006 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0023t0001 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0024t0001 0/0 3151 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0025t0002 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0026t0006 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0027t0003 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0028t0006 0/0 3151 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0029t0001 0/0 3151 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0030t0001 0/0 3151 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0001c0031t0002 0/0 3151 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0001 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0003 1/0 3156 35 4 4 10 3 13 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0006 0/0 3156 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0008 0/0 3156 6 4 0 1 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0015 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0003t0016 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0008t0001 0/0 3156 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0008t0005 0/0 3156 7 7 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0034t0008 0/0 3156 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0039t0003 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0002c0040t0003 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0001 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0002 0/0 3156 4 1 0 3 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0003 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0004 0/0 3156 18 10 4 2 1 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0006 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0011 0/0 3156 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0004t0014 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0007t0001 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0007t0002 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0007t0003 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0007t0007 0/0 3156 11 0 1 6 2 2 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0017t0002 0/0 3156 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0018t0003 0/0 3156 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0033t0007 0/0 3156 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0003c0041t0002 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0004c0016t0003 0/0 3156 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0004c0035t0003 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0005c0015t0001 0/0 3156 2 0 0 1 1 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0006c0037t0001 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0006c0038t0001 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0007c0042t0002 0/0 3156 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0008c0036t0008 0/0 3156 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801
a0009c0032t0006 0/0 3156 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 copy fasta chr21 46093112 46134801

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/0 4 0 0 4 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0004 0/0 3 0 2 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0007 0/0 2 0 1 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0009 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0010 0/0 2 0 1 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0011 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0012 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0032 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0033 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0035 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0037 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0038 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0039 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0041 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0047 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0052 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0056 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0101 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0105 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0107 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0108 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0109 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0116 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0122 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0124 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0125 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0126 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0128 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0129 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0131 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0132 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0133 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0134 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0135 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0136 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0137 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0138 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0139 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0144 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0145 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0146 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0147 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0149 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0152 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0156 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0159 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0174 0/1 1 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0176 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0178 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0179 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0185 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0186 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0188 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0189 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0218 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0233 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0241 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0244 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0245 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0246 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0274 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0285 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0304 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0305 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0307 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0001t0001g0337 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0001 0/0 8 0 1 6 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0003 0/0 4 0 0 4 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0006 0/0 3 0 0 3 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0015 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0016 0/0 2 0 0 0 0 2 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0017 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0018 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0019 0/0 2 0 0 2 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0253 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0254 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0255 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0258 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0259 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0270 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0271 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0272 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0273 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0276 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0277 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0278 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0279 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0280 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0281 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0283 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0284 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0286 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0289 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0290 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0293 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0296 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0297 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0298 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0300 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0301 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0302 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0306 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0308 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0309 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0311 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0315 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0316 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0317 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0318 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0319 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0320 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0322 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0324 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0326 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0327 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0331 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0332 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0002g0333 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0005g0292 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0007g0201 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0020 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0256 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0262 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0265 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0334 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0009g0338 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0010g0123 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0010g0294 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0010g0295 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0010g0325 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0012g0288 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0002t0013g0291 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0005 0/0 3 0 3 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0036 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0040 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0100 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0104 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0110 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0112 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0118 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0130 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0157 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0158 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0165 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0171 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0190 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0263 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0264 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0329 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0001g0330 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0002g0177 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0003g0127 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0003g0141 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0003g0142 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0005t0003g0251 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0057 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0058 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0059 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0064 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0236 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0237 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0005g0238 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0239 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0248 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0249 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0250 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0266 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0267 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0006g0268 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0006t0008g0303 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0106 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0111 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0115 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0120 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0121 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0009t0001g0148 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0010t0001g0172 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0010t0001g0191 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0011t0001g0335 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0011t0001g0336 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0012t0001g0240 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0012t0001g0257 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0013t0002g0001 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0013t0002g0275 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0014t0002g0321 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0014t0002g0323 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0019t0002g0017 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0020t0001g0181 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0021t0001g0180 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0022t0006g0050 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0023t0001g0034 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0024t0001g0009 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0025t0002g0282 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0026t0006g0049 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0027t0003g0252 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0028t0006g0247 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0029t0001g0143 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0030t0001g0160 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0001c0031t0002g0299 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0001g0068 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0008 0/0 2 0 2 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0021 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0023 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0024 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0026 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0027 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0030 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0051 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0053 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0054 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0055 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0062 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0063 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0066 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0069 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0070 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0072 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0073 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0074 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0075 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0076 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0077 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0078 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0079 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0080 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0081 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0083 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0084 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0085 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0092 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0228 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0231 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0232 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0003g0269 1/0 1 0 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0006g0065 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0006g0067 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0221 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0222 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0223 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0224 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0226 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0008g0227 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0015g0071 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0003t0016g0086 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0001g0090 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0001g0091 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0025 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0028 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0029 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0031 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0060 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0087 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0008t0005g0093 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0034t0008g0046 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0039t0003g0061 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0002c0040t0003g0230 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0001g0312 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0002g0044 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0002g0260 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0002g0314 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0002g0328 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0003g0194 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0014 0/0 2 2 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0045 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0097 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0198 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0199 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0207 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0208 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0209 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0211 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0212 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0213 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0215 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0216 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0217 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0219 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0220 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0004g0234 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0006g0210 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0011g0193 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0011g0200 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0004t0014g0214 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0001g0204 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0002g0022 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0003g0235 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0013 0/0 2 0 0 0 2 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0042 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0043 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0048 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0195 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0196 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0197 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0203 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0205 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0007t0007g0206 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0017t0002g0310 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0017t0002g0313 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0018t0003g0242 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0018t0003g0243 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0033t0007g0202 0/0 1 0 1 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0003c0041t0002g0261 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0004c0016t0003g0094 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0004c0016t0003g0096 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0004c0035t0003g0095 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0005c0015t0001g0082 0/0 1 0 0 0 1 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0005c0015t0001g0162 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0006c0037t0001g0088 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0006c0038t0001g0089 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0007c0042t0002g0287 0/0 1 0 0 1 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0008c0036t0008g0225 0/0 1 0 0 0 0 1 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
a0009c0032t0006g0229 0/0 1 1 0 0 0 0 COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0003 t0003 g0078 EUR GBR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00099 hp2 a0002 c0003 t0003 g0070 EUR GBR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00140 hp1 a0001 c0001 t0001 g0105 EUR GBR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00140 hp2 a0001 c0002 t0009 g0265 EUR GBR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00280 hp1 a0001 c0001 t0001 g0126 EUR FIN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00280 hp2 a0001 c0005 t0003 g0127 EUR FIN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00323 hp1 a0001 c0005 t0003 g0141 EUR FIN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00323 hp2 a0002 c0003 t0003 g0077 EUR FIN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00423 hp1 a0001 c0002 t0002 g0272 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00423 hp2 a0003 c0007 t0007 g0205 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00438 hp1 a0002 c0003 t0003 g0026 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00438 hp2 a0003 c0004 t0004 g0097 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00544 hp1 a0002 c0003 t0003 g0030 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00544 hp2 a0001 c0002 t0002 g0001 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00558 hp1 a0001 c0001 t0001 g0010 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00558 hp2 a0001 c0001 t0001 g0178 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00597 hp1 a0003 c0007 t0007 g0195 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00597 hp2 a0003 c0007 t0002 g0022 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00609 hp1 a0001 c0001 t0001 g0149 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00609 hp2 a0001 c0001 t0001 g0161 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00621 hp1 a0002 c0003 t0003 g0081 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00621 hp2 a0002 c0003 t0016 g0086 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00639 hp1 a0003 c0004 t0004 g0212 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00639 hp2 a0001 c0006 t0008 g0303 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00673 hp1 a0001 c0002 t0002 g0309 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00673 hp2 a0003 c0004 t0002 g0260 EAS CHS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00733 hp1 a0002 c0003 t0003 g0008 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00733 hp2 a0001 c0001 t0001 g0145 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00735 hp1 a0001 c0002 t0010 g0294 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00735 hp2 a0001 c0002 t0009 g0020 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00738 hp1 a0001 c0002 t0009 g0256 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00738 hp2 a0001 c0001 t0001 g0186 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00741 hp1 a0001 c0002 t0010 g0123 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG00741 hp2 a0001 c0005 t0001 g0118 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01069 hp1 a0001 c0001 t0001 g0179 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01069 hp2 a0001 c0001 t0001 g0011 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01070 hp1 a0001 c0001 t0001 g0159 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01070 hp2 a0001 c0005 t0001 g0040 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01071 hp1 a0001 c0005 t0001 g0157 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01071 hp2 a0001 c0001 t0001 g0144 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01074 hp1 a0003 c0004 t0004 g0216 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01074 hp2 a0001 c0002 t0010 g0295 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01099 hp1 a0001 c0001 t0001 g0037 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01099 hp2 a0001 c0002 t0009 g0262 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01106 hp1 a0001 c0002 t0009 g0020 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01106 hp2 a0001 c0001 t0001 g0041 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01109 hp1 a0003 c0004 t0004 g0198 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01109 hp2 a0002 c0003 t0003 g0008 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01168 hp1 a0001 c0002 t0002 g0278 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01168 hp2 a0001 c0005 t0001 g0165 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01169 hp1 a0001 c0002 t0002 g0270 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01169 hp2 a0001 c0001 t0001 g0185 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01175 hp1 a0001 c0001 t0001 g0146 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01175 hp2 a0001 c0001 t0001 g0337 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01243 hp1 a0003 c0033 t0007 g0202 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01243 hp2 a0001 c0012 t0001 g0257 AMR PUR COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01255 hp1 a0001 c0005 t0001 g0171 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01255 hp2 a0002 c0003 t0003 g0084 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01256 hp1 a0001 c0001 t0001 g0133 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01256 hp2 a0001 c0005 t0001 g0005 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01257 hp1 a0001 c0009 t0001 g0115 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01257 hp2 a0003 c0004 t0004 g0199 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01258 hp1 a0001 c0005 t0001 g0112 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01258 hp2 a0001 c0009 t0001 g0106 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01261 hp1 a0001 c0001 t0001 g0011 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01261 hp2 a0001 c0006 t0006 g0239 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01346 hp1 a0001 c0011 t0001 g0336 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01346 hp2 a0001 c0005 t0001 g0264 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01433 hp1 a0002 c0003 t0003 g0228 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01433 hp2 a0001 c0001 t0001 g0033 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01496 hp1 a0001 c0005 t0001 g0005 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01496 hp2 a0001 c0001 t0001 g0004 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01515 hp1 a0001 c0002 t0009 g0334 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01515 hp2 a0001 c0005 t0001 g0158 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01516 hp1 a0003 c0007 t0007 g0013 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01516 hp2 a0001 c0029 t0001 g0143 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01517 hp1 a0001 c0002 t0009 g0338 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01517 hp2 a0003 c0007 t0007 g0013 EUR IBS COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01884 hp1 a0003 c0004 t0004 g0014 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01884 hp2 a0001 c0005 t0001 g0330 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01891 hp1 a0001 c0006 t0005 g0238 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01891 hp2 a0001 c0009 t0001 g0111 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01928 hp1 a0001 c0020 t0001 g0181 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01928 hp2 a0001 c0001 t0001 g0010 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01952 hp1 a0001 c0001 t0001 g0004 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01952 hp2 a0001 c0002 t0002 g0326 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01975 hp1 a0001 c0001 t0001 g0137 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01975 hp2 a0001 c0002 t0002 g0001 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01978 hp1 a0001 c0005 t0001 g0263 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01978 hp2 a0001 c0001 t0001 g0129 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01981 hp1 a0001 c0001 t0001 g0007 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01981 hp2 a0003 c0007 t0007 g0196 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02015 hp1 a0001 c0001 t0001 g0139 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02015 hp2 a0001 c0002 t0002 g0331 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02040 hp1 a0002 c0003 t0015 g0071 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02040 hp2 a0001 c0002 t0002 g0003 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02055 hp1 a0001 c0001 t0001 g0035 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02055 hp2 a0002 c0003 t0008 g0222 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02056 hp1 a0001 c0001 t0001 g0114 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02056 hp2 a0001 c0023 t0001 g0034 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02071 hp1 a0001 c0002 t0002 g0300 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02071 hp2 a0002 c0003 t0003 g0027 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02074 hp1 a0001 c0002 t0002 g0001 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02074 hp2 a0001 c0002 t0002 g0258 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02080 hp1 a0001 c0002 t0002 g0279 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02080 hp2 a0001 c0001 t0001 g0188 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02083 hp1 a0001 c0001 t0001 g0167 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02083 hp2 a0002 c0003 t0008 g0223 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02132 hp1 a0001 c0002 t0002 g0298 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02132 hp2 a0002 c0003 t0003 g0079 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02135 hp1 a0002 c0003 t0003 g0085 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02135 hp2 a0001 c0001 t0001 g0038 EAS KHV COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02145 hp1 a0002 c0008 t0005 g0025 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02145 hp2 a0003 c0004 t0011 g0193 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02165 hp1 a0001 c0002 t0002 g0001 EAS CDX COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02165 hp2 a0001 c0001 t0001 g0009 EAS CDX COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02257 hp1 a0002 c0008 t0005 g0028 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02257 hp2 a0002 c0003 t0006 g0065 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02258 hp1 a0003 c0004 t0004 g0014 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02258 hp2 a0001 c0005 t0001 g0329 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02273 hp1 a0001 c0001 t0001 g0152 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02273 hp2 a0001 c0001 t0001 g0147 AMR PEL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02280 hp1 a0001 c0012 t0001 g0240 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02280 hp2 a0002 c0008 t0005 g0029 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02451 hp1 a0003 c0004 t0004 g0209 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02451 hp2 a0002 c0008 t0005 g0087 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02602 hp1 a0001 c0005 t0001 g0190 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02602 hp2 a0003 c0004 t0004 g0045 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02615 hp1 a0003 c0004 t0003 g0194 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02615 hp2 a0001 c0006 t0005 g0058 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02622 hp1 a0001 c0001 t0001 g0122 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02622 hp2 a0002 c0008 t0005 g0093 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02630 hp1 a0001 c0002 t0002 g0253 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02630 hp2 a0001 c0005 t0001 g0100 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02647 hp1 a0001 c0001 t0001 g0241 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02647 hp2 a0004 c0035 t0003 g0095 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02683 hp1 a0001 c0001 t0001 g0132 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02683 hp2 a0001 c0001 t0001 g0131 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02698 hp1 a0002 c0003 t0003 g0083 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02698 hp2 a0001 c0030 t0001 g0160 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02717 hp1 a0002 c0008 t0001 g0091 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02717 hp2 a0003 c0004 t0011 g0200 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02723 hp1 a0001 c0002 t0002 g0289 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02723 hp2 a0003 c0004 t0004 g0211 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02809 hp1 a0002 c0040 t0003 g0230 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02809 hp2 a0001 c0005 t0003 g0251 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02818 hp1 a0003 c0018 t0003 g0242 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02818 hp2 a0002 c0003 t0003 g0231 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02886 hp1 a0003 c0004 t0004 g0207 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02886 hp2 a0001 c0006 t0006 g0267 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02896 hp1 a0001 c0009 t0001 g0148 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02896 hp2 a0001 c0006 t0006 g0249 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02897 hp1 a0001 c0006 t0006 g0266 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02897 hp2 a0001 c0006 t0006 g0248 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02922 hp1 a0002 c0003 t0001 g0068 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02922 hp2 a0001 c0002 t0002 g0281 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02965 hp1 a0001 c0022 t0006 g0050 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02965 hp2 a0002 c0003 t0006 g0067 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02970 hp1 a0002 c0003 t0008 g0224 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02970 hp2 a0001 c0021 t0001 g0180 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02976 hp1 a0001 c0028 t0006 g0247 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02976 hp2 a0002 c0003 t0008 g0226 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03017 hp1 a0002 c0003 t0003 g0054 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03017 hp2 a0001 c0005 t0003 g0142 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03098 hp1 a0001 c0006 t0005 g0064 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03098 hp2 a0002 c0003 t0008 g0227 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03139 hp1 a0001 c0002 t0002 g0311 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03139 hp2 a0001 c0025 t0002 g0282 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03195 hp1 a0003 c0004 t0004 g0234 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03195 hp2 a0002 c0003 t0003 g0232 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03209 hp1 a0001 c0026 t0006 g0049 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03209 hp2 a0001 c0009 t0001 g0121 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03225 hp1 a0001 c0009 t0001 g0120 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03225 hp2 a0003 c0004 t0004 g0220 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03239 hp1 a0002 c0003 t0003 g0080 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03239 hp2 a0003 c0007 t0007 g0043 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03453 hp1 a0001 c0006 t0005 g0237 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03453 hp2 a0003 c0018 t0003 g0243 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03486 hp1 a0001 c0002 t0002 g0320 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03486 hp2 a0003 c0004 t0006 g0210 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03490 hp1 a0002 c0003 t0003 g0075 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03490 hp2 a0001 c0010 t0001 g0191 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03491 hp1 a0001 c0002 t0002 g0016 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03491 hp2 a0002 c0003 t0003 g0055 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03492 hp1 a0001 c0010 t0001 g0172 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03492 hp2 a0001 c0002 t0002 g0016 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03516 hp1 a0003 c0004 t0002 g0044 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03516 hp2 a0001 c0001 t0001 g0107 AFR ESN COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03540 hp1 a0001 c0002 t0002 g0333 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03540 hp2 a0004 c0016 t0003 g0096 AFR GWD COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03579 hp1 a0001 c0006 t0006 g0268 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03579 hp2 a0001 c0005 t0002 g0177 AFR MSL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03669 hp1 a0002 c0003 t0003 g0062 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03669 hp2 a0001 c0002 t0002 g0001 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03688 hp1 a0001 c0001 t0001 g0176 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03688 hp2 a0001 c0005 t0001 g0110 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03704 hp1 a0002 c0003 t0003 g0076 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03704 hp2 a0001 c0005 t0001 g0036 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03710 hp1 a0002 c0034 t0008 g0046 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03710 hp2 a0001 c0001 t0001 g0233 SAS PJL COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03831 hp1 a0002 c0003 t0003 g0021 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03831 hp2 a0002 c0003 t0003 g0023 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03834 hp1 a0001 c0001 t0001 g0056 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03834 hp2 a0001 c0001 t0001 g0134 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03927 hp1 a0001 c0001 t0001 g0032 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03927 hp2 a0001 c0031 t0002 g0299 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03942 hp1 a0002 c0003 t0003 g0053 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG03942 hp2 a0001 c0001 t0001 g0052 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04115 hp1 a0001 c0002 t0010 g0325 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04115 hp2 a0008 c0036 t0008 g0225 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04184 hp1 a0002 c0003 t0003 g0024 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04184 hp2 a0001 c0002 t0002 g0293 SAS BEB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04199 hp1 a0001 c0001 t0001 g0124 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04199 hp2 a0003 c0007 t0007 g0203 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04204 hp1 a0002 c0003 t0008 g0221 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04204 hp2 a0002 c0003 t0003 g0063 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04228 hp1 a0001 c0001 t0001 g0125 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG04228 hp2 a0002 c0003 t0003 g0051 SAS STU COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18522 hp1 a0003 c0004 t0004 g0217 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18522 hp2 a0006 c0037 t0001 g0088 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18612 hp1 a0001 c0001 t0001 g0136 EAS CHB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18612 hp2 a0001 c0001 t0001 g0138 EAS CHB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18747 hp1 a0001 c0001 t0001 g0168 EAS CHB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18747 hp2 a0001 c0019 t0002 g0017 EAS CHB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18906 hp1 a0002 c0008 t0005 g0060 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18906 hp2 a0001 c0006 t0005 g0059 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18941 hp1 a0001 c0001 t0001 g0184 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18941 hp2 a0003 c0007 t0007 g0206 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18942 hp1 a0001 c0024 t0001 g0009 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18942 hp2 a0001 c0002 t0002 g0017 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18943 hp1 a0001 c0002 t0002 g0322 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18943 hp2 a0001 c0001 t0001 g0098 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18944 hp1 a0003 c0007 t0007 g0042 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18944 hp2 a0001 c0001 t0001 g0002 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18945 hp1 a0001 c0001 t0001 g0173 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18945 hp2 a0001 c0002 t0002 g0324 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18948 hp1 a0001 c0002 t0002 g0317 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18948 hp2 a0001 c0001 t0001 g0109 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18949 hp1 a0003 c0007 t0007 g0048 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18949 hp2 a0001 c0002 t0002 g0276 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18950 hp1 a0001 c0001 t0001 g0189 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18950 hp2 a0001 c0002 t0002 g0284 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18951 hp1 a0001 c0002 t0002 g0296 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18951 hp2 a0001 c0001 t0001 g0153 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18952 hp1 a0001 c0001 t0001 g0246 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18952 hp2 a0001 c0002 t0002 g0018 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18954 hp1 a0001 c0013 t0002 g0001 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18954 hp2 a0001 c0001 t0001 g0192 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18964 hp1 a0001 c0001 t0001 g0169 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18964 hp2 a0001 c0002 t0002 g0003 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18965 hp1 a0001 c0001 t0001 g0103 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18965 hp2 a0001 c0002 t0002 g0319 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18966 hp1 a0001 c0001 t0001 g0039 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18966 hp2 a0001 c0002 t0002 g0018 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18971 hp1 a0001 c0002 t0002 g0255 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18971 hp2 a0001 c0002 t0002 g0015 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18972 hp1 a0001 c0001 t0001 g0187 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18972 hp2 a0001 c0001 t0001 g0274 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18975 hp1 a0001 c0002 t0002 g0302 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18975 hp2 a0001 c0002 t0002 g0259 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18977 hp1 a0003 c0004 t0004 g0208 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18977 hp2 a0001 c0001 t0001 g0108 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18978 hp1 a0001 c0002 t0002 g0315 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18978 hp2 a0001 c0001 t0001 g0102 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18979 hp1 a0001 c0002 t0002 g0332 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18979 hp2 a0001 c0001 t0001 g0175 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18980 hp1 a0003 c0017 t0002 g0313 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18980 hp2 a0001 c0002 t0013 g0291 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18981 hp1 a0001 c0001 t0001 g0244 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18981 hp2 a0001 c0002 t0002 g0277 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18982 hp1 a0001 c0001 t0001 g0183 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18982 hp2 a0003 c0004 t0002 g0314 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18983 hp1 a0001 c0001 t0001 g0151 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18983 hp2 a0001 c0001 t0001 g0154 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18984 hp1 a0001 c0001 t0001 g0304 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18984 hp2 a0001 c0001 t0001 g0135 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18985 hp1 a0002 c0003 t0003 g0092 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18985 hp2 a0001 c0002 t0002 g0290 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18986 hp1 a0003 c0004 t0001 g0312 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18986 hp2 a0001 c0002 t0002 g0283 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18988 hp1 a0001 c0001 t0001 g0182 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18988 hp2 a0001 c0002 t0002 g0280 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18989 hp1 a0007 c0042 t0002 g0287 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18989 hp2 a0001 c0002 t0002 g0001 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18990 hp1 a0001 c0001 t0001 g0307 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18990 hp2 a0001 c0001 t0001 g0140 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18994 hp1 a0001 c0001 t0001 g0245 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18994 hp2 a0003 c0007 t0007 g0197 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18998 hp1 a0001 c0002 t0002 g0006 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18998 hp2 a0001 c0001 t0001 g0012 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18999 hp1 a0003 c0004 t0014 g0214 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18999 hp2 a0001 c0001 t0001 g0164 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19000 hp1 a0001 c0001 t0001 g0119 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19000 hp2 a0003 c0004 t0002 g0328 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19003 hp1 a0001 c0001 t0001 g0047 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19003 hp2 a0001 c0002 t0002 g0297 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19005 hp1 a0001 c0002 t0002 g0006 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19005 hp2 a0001 c0001 t0001 g0004 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19009 hp1 a0001 c0001 t0001 g0305 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19009 hp2 a0001 c0001 t0001 g0002 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19010 hp1 a0001 c0002 t0002 g0318 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19010 hp2 a0001 c0002 t0012 g0288 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19012 hp1 a0001 c0002 t0002 g0015 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19012 hp2 a0001 c0002 t0002 g0306 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19030 hp1 a0002 c0003 t0003 g0069 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19030 hp2 a0001 c0027 t0003 g0252 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19043 hp1 a0001 c0002 t0002 g0254 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19043 hp2 a0009 c0032 t0006 g0229 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19054 hp1 a0001 c0001 t0001 g0128 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19054 hp2 a0001 c0002 t0002 g0006 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19055 hp1 a0001 c0001 t0001 g0163 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19055 hp2 a0001 c0014 t0002 g0323 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19056 hp1 a0001 c0002 t0002 g0001 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19056 hp2 a0001 c0002 t0002 g0301 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19057 hp1 a0001 c0002 t0005 g0292 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19057 hp2 a0001 c0001 t0001 g0002 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19060 hp1 a0001 c0001 t0001 g0116 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19060 hp2 a0001 c0001 t0001 g0113 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19065 hp1 a0001 c0002 t0002 g0019 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19065 hp2 a0002 c0003 t0003 g0074 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19066 hp1 a0001 c0001 t0001 g0099 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19066 hp2 a0001 c0002 t0002 g0001 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19068 hp1 a0001 c0002 t0002 g0003 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19068 hp2 a0003 c0007 t0001 g0204 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19070 hp1 a0002 c0003 t0003 g0073 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19070 hp2 a0001 c0001 t0001 g0002 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19079 hp1 a0001 c0001 t0001 g0012 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19079 hp2 a0001 c0002 t0002 g0019 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19080 hp1 a0002 c0003 t0003 g0072 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19080 hp2 a0001 c0001 t0001 g0117 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19082 hp1 a0001 c0001 t0001 g0155 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19082 hp2 a0003 c0017 t0002 g0310 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19083 hp1 a0001 c0002 t0002 g0316 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19083 hp2 a0005 c0015 t0001 g0162 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19084 hp1 a0001 c0001 t0001 g0101 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19084 hp2 a0001 c0002 t0002 g0003 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19087 hp1 a0001 c0001 t0001 g0170 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19087 hp2 a0001 c0013 t0002 g0275 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19088 hp1 a0001 c0001 t0001 g0150 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19088 hp2 a0001 c0014 t0002 g0321 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19089 hp1 a0001 c0002 t0002 g0271 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19089 hp2 a0001 c0001 t0001 g0285 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19090 hp1 a0001 c0001 t0001 g0007 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19090 hp2 a0001 c0002 t0002 g0308 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19091 hp1 a0001 c0001 t0001 g0166 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19091 hp2 a0001 c0002 t0002 g0286 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19240 hp1 a0003 c0004 t0004 g0213 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA19240 hp2 a0001 c0002 t0002 g0327 AFR YRI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20129 hp1 a0001 c0005 t0001 g0130 AFR ASW COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20129 hp2 a0006 c0038 t0001 g0089 AFR ASW COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20752 hp1 a0001 c0002 t0007 g0201 EUR TSI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20752 hp2 a0001 c0005 t0001 g0104 EUR TSI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20805 hp1 a0005 c0015 t0001 g0082 EUR TSI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20805 hp2 a0003 c0004 t0004 g0219 EUR TSI COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20905 hp1 a0001 c0001 t0001 g0156 SAS GIH COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA20905 hp2 a0001 c0001 t0001 g0218 SAS GIH COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01123 hp1 a0001 c0011 t0001 g0335 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG01123 hp2 a0001 c0005 t0001 g0005 AMR CLM COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02109 hp1 a0004 c0016 t0003 g0094 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02109 hp2 a0002 c0039 t0003 g0061 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02486 hp1 a0003 c0004 t0004 g0215 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02486 hp2 a0002 c0008 t0005 g0031 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02559 hp1 a0001 c0006 t0005 g0057 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG02559 hp2 a0001 c0006 t0006 g0250 AFR ACB COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG06807 hp1 a0002 c0008 t0001 g0090 AFR USA COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
HG06807 hp2 a0003 c0007 t0003 g0235 AFR USA COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18955 hp1 a0003 c0041 t0002 g0261 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA18955 hp2 a0001 c0002 t0002 g0273 EAS JPT COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA21309 hp1 a0002 c0003 t0003 g0066 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
NA21309 hp2 a0001 c0006 t0005 g0236 AFR LWK COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0174 REF REF COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801
homoSapiens_grch38 hp1 a0002 c0003 t0003 g0269 REF REF COL6A2_chr21_46093112_46134801 COL6A2 chr21 46093112 46134801

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
chr21:46111519 C
C
 G
G
 1 a0007
a0007
 1 NA18989.hp1
NA18989.hp1
 missense_variant MODERATE c.43C>G
c.43C>G
 p.Leu15Val
p.Leu15Val
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/28 132/3156 43/2757 15/918 chr21 46111519
chr21:46111520 T
T
 G
G
 1 a0007
a0007
 1 NA18989.hp1
NA18989.hp1
 missense_variant MODERATE c.44T>G
c.44T>G
 p.Leu15Arg
p.Leu15Arg
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/28 133/3156 44/2757 15/918 chr21 46111520
chr21:46112362 G
G
 A
A
 1 a0009
a0009
 1 NA19043.hp2
NA19043.hp2
 missense_variant MODERATE c.499G>A
c.499G>A
 p.Gly167Ser
p.Gly167Ser
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 588/3156 499/2757 167/918 chr21 46112362
chr21:46112442 C
C
 G
G
 1 a0001
a0001
 1 HG03927.hp2
HG03927.hp2
 missense_variant MODERATE c.579C>G
c.579C>G
 p.Asn193Lys
p.Asn193Lys
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 668/3156 579/2757 193/918 chr21 46112442
chr21:46112468 G
G
 A
A
 1 a0001
a0001
 1 HG01928.hp1
HG01928.hp1
 missense_variant MODERATE c.605G>A
c.605G>A
 p.Arg202Gln
p.Arg202Gln
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 694/3156 605/2757 202/918 chr21 46112468
chr21:46112542 G
G
 A
A
 1 a0001
a0001
 7 HG01257.hp1
HG01258.hp2
HG01891.hp2
others(4): Show 
HG01257.hp1
HG01258.hp2
HG01891.hp2
HG02896.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
 missense_variant MODERATE c.679G>A
c.679G>A
 p.Asp227Asn
p.Asp227Asn
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 768/3156 679/2757 227/918 chr21 46112542
chr21:46115902 G
G
 A
A
 1 a0001
a0001
 1 HG02965.hp1
HG02965.hp1
 missense_variant MODERATE c.832G>A
c.832G>A
 p.Glu278Lys
p.Glu278Lys
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 6/28 921/3156 832/2757 278/918 chr21 46115902
chr21:46117890 C
C
 G
G
 1 a0001
a0001
 1 HG01516.hp2
HG01516.hp2
 missense_variant MODERATE c.1070C>G
c.1070C>G
 p.Pro357Arg
p.Pro357Arg
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/28 1159/3156 1070/2757 357/918 chr21 46117890
chr21:46119046 G
G
 A
A
 5 a0001
a0003
a0005
others(2): Show 
a0001
a0003
a0005
a0007
a0009
 291 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(288): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1196G>A
c.1196G>A
 p.Ser399Asn
p.Ser399Asn
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/28 1285/3156 1196/2757 399/918 chr21 46119046
chr21:46121563 G
G
 A
A
 1 a0004
a0004
 3 HG02109.hp1
HG02647.hp2
HG03540.hp2
HG02109.hp1
HG02647.hp2
HG03540.hp2
 missense_variant MODERATE c.1466G>A
c.1466G>A
 p.Arg489Gln
p.Arg489Gln
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/28 1555/3156 1466/2757 489/918 chr21 46121563
chr21:46124685 G
G
 A
A
 1 a0001
a0001
 1 HG02056.hp2
HG02056.hp2
 missense_variant MODERATE c.1706G>A
c.1706G>A
 p.Arg569Gln
p.Arg569Gln
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/28 1795/3156 1706/2757 569/918 chr21 46124685
chr21:46125275 G
G
 A
A
 1 a0001
a0001
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 missense_variant MODERATE c.1780G>A
c.1780G>A
 p.Val594Ile
p.Val594Ile
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/28 1869/3156 1780/2757 594/918 chr21 46125275
chr21:46125593 G
G
 A
A
 1 a0008
a0008
 1 HG04115.hp2
HG04115.hp2
 missense_variant MODERATE c.1945G>A
c.1945G>A
 p.Ala649Thr
p.Ala649Thr
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 25/28 2034/3156 1945/2757 649/918 chr21 46125593
chr21:46125854 G
G
 A
A
 3 a0001
a0005
a0006
a0001
a0005
a0006
 151 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.2039G>A
c.2039G>A
 p.Arg680His
p.Arg680His
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2128/3156 2039/2757 680/918 chr21 46125854
chr21:46126147 G
G
 A
A
 1 a0001
a0001
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.2332G>A
c.2332G>A
 p.Asp778Asn
p.Asp778Asn
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2421/3156 2332/2757 778/918 chr21 46126147
chr21:46126166 G
G
 A
A
 1 a0001
a0001
 2 HG01123.hp1
HG01346.hp1
HG01123.hp1
HG01346.hp1
 missense_variant MODERATE c.2351G>A
c.2351G>A
 p.Arg784His
p.Arg784His
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2440/3156 2351/2757 784/918 chr21 46126166
chr21:46126216 A
A
 G
G
 1 a0001
a0001
 2 NA19055.hp2
NA19088.hp2
NA19055.hp2
NA19088.hp2
 missense_variant MODERATE c.2401A>G
c.2401A>G
 p.Met801Val
p.Met801Val
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2490/3156 2401/2757 801/918 chr21 46126216
chr21:46129201 C
C
 A
A
 1 a0001
a0001
 2 HG01243.hp2
HG02280.hp1
HG01243.hp2
HG02280.hp1
 missense_variant MODERATE c.2467C>A
c.2467C>A
 p.Pro823Thr
p.Pro823Thr
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 2556/3156 2467/2757 823/918 chr21 46129201
chr21:46129208 C
C
 A
A
 1 a0001
a0001
 1 HG03139.hp2
HG03139.hp2
 missense_variant MODERATE c.2474C>A
c.2474C>A
 p.Pro825His
p.Pro825His
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 2563/3156 2474/2757 825/918 chr21 46129208
chr21:46129449 G
G
 C
C
 1 a0001
a0001
 3 HG03927.hp2
NA18954.hp1
NA19087.hp2
HG03927.hp2
NA18954.hp1
NA19087.hp2
 missense_variant MODERATE c.2715G>C
c.2715G>C
 p.Arg905Ser
p.Arg905Ser
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 2804/3156 2715/2757 905/918 chr21 46129449
chr21:46129801 C
C
 T
T
 4 a0001
a0002
a0003
others(1): Show 
a0001
a0002
a0003
a0009
 35 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(32): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01261.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp2
HG03579.hp1
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19043.hp2
NA19240.hp1
NA20805.hp2
 splice_region_variant LOW c.*310C>T
c.*310C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 chr21 46129801

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
chr21:46112274 G
G
 A
A
 1 a0001c0019
a0001c0019
 1 NA18747.hp2
NA18747.hp2
 synonymous_variant LOW c.411G>A
c.411G>A
 p.Ala137Ala
p.Ala137Ala
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 500/3156 411/2757 137/918 chr21 46112274
chr21:46112346 C
C
 T
T
 1 a0003c0018
a0003c0018
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 synonymous_variant LOW c.483C>T
c.483C>T
 p.Thr161Thr
p.Thr161Thr
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 572/3156 483/2757 161/918 chr21 46112346
chr21:46112403 C
C
 A
A
 1 a0007c0042
a0007c0042
 1 NA18989.hp1
NA18989.hp1
 synonymous_variant LOW c.540C>A
c.540C>A
 p.Ala180Ala
p.Ala180Ala
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 629/3156 540/2757 180/918 chr21 46112403
chr21:46112490 C
C
 T
T
 1 a0001c0030
a0001c0030
 1 HG02698.hp2
HG02698.hp2
 synonymous_variant LOW c.627C>T
c.627C>T
 p.His209His
p.His209His
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 716/3156 627/2757 209/918 chr21 46112490
chr21:46112526 C
C
 T
T
 4 a0003c0004
a0003c0017
a0003c0041
others(1): Show 
a0003c0004
a0003c0017
a0003c0041
a0009c0032
 32 HG00438.hp2
HG00639.hp1
HG00673.hp2
others(29): Show 
HG00438.hp2
HG00639.hp1
HG00673.hp2
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18955.hp1
NA18977.hp1
NA18980.hp1
NA18982.hp2
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19043.hp2
NA19082.hp2
NA19240.hp1
NA20805.hp2
 synonymous_variant LOW c.663C>T
c.663C>T
 p.Pro221Pro
p.Pro221Pro
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/28 752/3156 663/2757 221/918 chr21 46112526
chr21:46116668 C
C
 T
T
 1 a0002c0040
a0002c0040
 1 HG02809.hp1
HG02809.hp1
 synonymous_variant LOW c.945C>T
c.945C>T
 p.Asp315Asp
p.Asp315Asp
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 9/28 1034/3156 945/2757 315/918 chr21 46116668
chr21:46119065 T
T
 C
C
 1 a0002c0034
a0002c0034
 1 HG03710.hp1
HG03710.hp1
 synonymous_variant LOW c.1215T>C
c.1215T>C
 p.Pro405Pro
p.Pro405Pro
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/28 1304/3156 1215/2757 405/918 chr21 46119065
chr21:46124662 T
T
 C
C
 1 a0004c0035
a0004c0035
 1 HG02647.hp2
HG02647.hp2
 synonymous_variant LOW c.1683T>C
c.1683T>C
 p.Gly561Gly
p.Gly561Gly
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/28 1772/3156 1683/2757 561/918 chr21 46124662
chr21:46124911 C
C
 T
T
 1 a0002c0039
a0002c0039
 1 HG02109.hp2
HG02109.hp2
 synonymous_variant LOW c.1761C>T
c.1761C>T
 p.Pro587Pro
p.Pro587Pro
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/28 1850/3156 1761/2757 587/918 chr21 46124911
chr21:46125909 G
G
 A
A
 15 a0001c0001
a0001c0005
a0001c0009
others(12): Show 
a0001c0001
a0001c0005
a0001c0009
a0001c0010
a0001c0011
a0001c0012
a0001c0020
a0001c0021
a0001c0023
a0001c0024
a0001c0029
a0001c0030
a0005c0015
a0006c0037
a0006c0038
 151 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2094G>A
c.2094G>A
 p.Ala698Ala
p.Ala698Ala
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2183/3156 2094/2757 698/918 chr21 46125909
chr21:46125912 C
C
 T
T
 15 a0001c0001
a0001c0005
a0001c0009
others(12): Show 
a0001c0001
a0001c0005
a0001c0009
a0001c0010
a0001c0011
a0001c0012
a0001c0020
a0001c0021
a0001c0023
a0001c0024
a0001c0029
a0001c0030
a0005c0015
a0006c0037
a0006c0038
 151 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2097C>T
c.2097C>T
 p.Gly699Gly
p.Gly699Gly
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2186/3156 2097/2757 699/918 chr21 46125912
chr21:46125975 C
C
 G
G
 3 a0001c0022
a0001c0026
a0001c0028
a0001c0022
a0001c0026
a0001c0028
 3 HG02965.hp1
HG02976.hp1
HG03209.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp1
 synonymous_variant LOW c.2160C>G
c.2160C>G
 p.Arg720Arg
p.Arg720Arg
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2249/3156 2160/2757 720/918 chr21 46125975
chr21:46125978 G
G
 A
A
 3 a0002c0008
a0004c0016
a0004c0035
a0002c0008
a0004c0016
a0004c0035
 12 HG02109.hp1
HG02145.hp1
HG02257.hp1
others(9): Show 
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
 synonymous_variant LOW c.2163G>A
c.2163G>A
 p.Gln721Gln
p.Gln721Gln
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2252/3156 2163/2757 721/918 chr21 46125978
chr21:46125999 G
G
 A
A
 13 a0001c0001
a0001c0009
a0001c0010
others(10): Show 
a0001c0001
a0001c0009
a0001c0010
a0001c0011
a0001c0020
a0001c0021
a0001c0023
a0001c0024
a0001c0029
a0001c0030
a0005c0015
a0006c0037
a0006c0038
 124 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(121): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2184G>A
c.2184G>A
 p.Val728Val
p.Val728Val
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2273/3156 2184/2757 728/918 chr21 46125999
chr21:46126011 C
C
 T
T
 1 a0001c0024
a0001c0024
 1 NA18942.hp1
NA18942.hp1
 synonymous_variant LOW c.2196C>T
c.2196C>T
 p.Asp732Asp
p.Asp732Asp
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2285/3156 2196/2757 732/918 chr21 46126011
chr21:46126092 C
C
 T
T
 1 a0006c0038
a0006c0038
 1 NA20129.hp2
NA20129.hp2
 synonymous_variant LOW c.2277C>T
c.2277C>T
 p.Ile759Ile
p.Ile759Ile
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2366/3156 2277/2757 759/918 chr21 46126092
chr21:46126137 C
C
 T
T
 1 a0003c0033
a0003c0033
 1 HG01243.hp1
HG01243.hp1
 synonymous_variant LOW c.2322C>T
c.2322C>T
 p.Ser774Ser
p.Ser774Ser
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2411/3156 2322/2757 774/918 chr21 46126137
chr21:46126146 C
C
 T
T
 1 a0003c0017
a0003c0017
 2 NA18980.hp1
NA19082.hp2
NA18980.hp1
NA19082.hp2
 synonymous_variant LOW c.2331C>T
c.2331C>T
 p.Cys777Cys
p.Cys777Cys
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/28 2420/3156 2331/2757 777/918 chr21 46126146
chr21:46129317 G
G
 A
A
 1 a0001c0021
a0001c0021
 1 HG02970.hp2
HG02970.hp2
 synonymous_variant LOW c.2583G>A
c.2583G>A
 p.Thr861Thr
p.Thr861Thr
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 2672/3156 2583/2757 861/918 chr21 46129317
chr21:46129476 G
G
 A
A
 1 a0003c0041
a0003c0041
 1 NA18955.hp1
NA18955.hp1
 synonymous_variant LOW c.2742G>A
c.2742G>A
 p.Ala914Ala
p.Ala914Ala
 COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 2831/3156 2742/2757 914/918 chr21 46129476

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
chr21:46098127 G
G
 T
T
 1 a0002c0003t0016
a0002c0003t0016
 1 HG00621.hp2
HG00621.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-74G>T
c.-74G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/28 chr21 46098127
chr21:46129496 C
C
 T
T
 1 a0001c0002t0010
a0001c0002t0010
 4 HG00735.hp1
HG00741.hp1
HG01074.hp2
others(1): Show 
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG04115.hp1
 3_prime_UTR_variant MODIFIER c.*5C>T
c.*5C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 5 chr21 46129496
chr21:46129596 G
G
 C
C
 17 a0001c0002t0002
a0001c0002t0009
a0001c0002t0010
others(14): Show 
a0001c0002t0002
a0001c0002t0009
a0001c0002t0010
a0001c0002t0012
a0001c0002t0013
a0001c0005t0002
a0001c0013t0002
a0001c0014t0002
a0001c0019t0002
a0001c0025t0002
a0001c0031t0002
a0003c0004t0002
a0003c0004t0014
a0003c0007t0002
a0003c0017t0002
a0003c0041t0002
a0007c0042t0002
 99 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(96): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01515.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*105G>C
c.*105G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 105 chr21 46129596
chr21:46129607 G
G
 C
C
 1 a0001c0002t0012
a0001c0002t0012
 1 NA19010.hp2
NA19010.hp2
 3_prime_UTR_variant MODIFIER c.*116G>C
c.*116G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 116 chr21 46129607
chr21:46129643 A
A
 G
G
 3 a0001c0002t0007
a0003c0007t0007
a0003c0033t0007
a0001c0002t0007
a0003c0007t0007
a0003c0033t0007
 13 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(10): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA20752.hp1
 3_prime_UTR_variant MODIFIER c.*152A>G
c.*152A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 152 chr21 46129643
chr21:46129655 T
T
 C
C
 19 a0001c0002t0002
a0001c0002t0005
a0001c0002t0010
others(16): Show 
a0001c0002t0002
a0001c0002t0005
a0001c0002t0010
a0001c0002t0012
a0001c0002t0013
a0001c0005t0002
a0001c0006t0005
a0001c0013t0002
a0001c0014t0002
a0001c0019t0002
a0001c0025t0002
a0001c0031t0002
a0002c0008t0005
a0003c0004t0002
a0003c0004t0011
a0003c0007t0002
a0003c0017t0002
a0003c0041t0002
a0007c0042t0002
 108 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(105): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*164T>C
c.*164T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 164 chr21 46129655
chr21:46129699 C
C
 T
T
 3 a0003c0004t0004
a0003c0004t0011
a0003c0004t0014
a0003c0004t0004
a0003c0004t0011
a0003c0004t0014
 21 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(18): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19240.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*208C>T
c.*208C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 208 chr21 46129699
chr21:46129715 T
T
 A
A
 19 a0001c0001t0001
a0001c0005t0001
a0001c0009t0001
others(16): Show 
a0001c0001t0001
a0001c0005t0001
a0001c0009t0001
a0001c0010t0001
a0001c0011t0001
a0001c0012t0001
a0001c0020t0001
a0001c0021t0001
a0001c0023t0001
a0001c0024t0001
a0001c0029t0001
a0001c0030t0001
a0002c0003t0001
a0002c0008t0001
a0003c0004t0001
a0003c0007t0001
a0005c0015t0001
a0006c0037t0001
a0006c0038t0001
 151 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*224T>A
c.*224T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 224 chr21 46129715
chr21:46129770 T
T
 C
C
 1 a0002c0003t0015
a0002c0003t0015
 1 HG02040.hp1
HG02040.hp1
 3_prime_UTR_variant MODIFIER c.*279T>C
c.*279T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 279 chr21 46129770
chr21:46129782 T
T
 C
C
 4 a0001c0006t0008
a0002c0003t0008
a0002c0034t0008
others(1): Show 
a0001c0006t0008
a0002c0003t0008
a0002c0034t0008
a0008c0036t0008
 9 HG00639.hp2
HG02055.hp2
HG02083.hp2
others(6): Show 
HG00639.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03710.hp1
HG04115.hp2
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*291T>C
c.*291T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 291 chr21 46129782
chr21:46129783 C
C
 T
T
 1 a0001c0002t0013
a0001c0002t0013
 1 NA18980.hp2
NA18980.hp2
 3_prime_UTR_variant MODIFIER c.*292C>T
c.*292C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 28/28 292 chr21 46129783

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
chr21:46098272 T
T
 C
C
 246 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(243): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0007g0201
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 260 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(257): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+99T>C
c.-28+99T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098272
chr21:46098393 G
G
 C
C
 1 a0001c0002t0002g0255
a0001c0002t0002g0255
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.-28+220G>C
c.-28+220G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098393
chr21:46098456 T
T
 TG
TG
 210 a0001c0001t0001g0002
a0001c0001t0001g0009
a0001c0001t0001g0010
others(207): Show 
a0001c0001t0001g0002
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0007g0201
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0002g0260
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 221 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(218): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18964.hp1
NA18965.hp1
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+290dupG
c.-28+290dupG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46098456
chr21:46098456 T
T
 TGG
TGG
 30 a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0032
others(27): Show 
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0023t0001g0034
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0004g0045
a0003c0007t0002g0022
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
 33 HG00438.hp1
HG00544.hp1
HG00597.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02602.hp2
HG03239.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp1
NA18944.hp1
NA18949.hp1
NA18966.hp1
NA19003.hp1
NA19005.hp2
NA19090.hp1
 intron_variant MODIFIER c.-28+289_-28+290dup
others(2): Show 
c.-28+289_-28+290dupGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46098456
chr21:46098515 C
C
 T
T
 9 a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
others(6): Show 
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0009g0020
a0001c0002t0009g0262
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0011t0001g0335
a0001c0011t0001g0336
 10 HG00735.hp2
HG01099.hp2
HG01106.hp1
others(7): Show 
HG00735.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01175.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.-28+342C>T
c.-28+342C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098515
chr21:46098521 C
C
 T
T
 1 a0003c0004t0004g0014
a0003c0004t0004g0014
 2 HG01884.hp1
HG02258.hp1
HG01884.hp1
HG02258.hp1
 intron_variant MODIFIER c.-28+348C>T
c.-28+348C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098521
chr21:46098565 G
G
 A
A
 1 a0001c0005t0001g0263
a0001c0005t0001g0263
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.-28+392G>A
c.-28+392G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098565
chr21:46098608 C
C
 T
T
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.-28+435C>T
c.-28+435C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098608
chr21:46098635 G
G
 A
A
 2 a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0022t0006g0050
a0001c0026t0006g0049
 2 HG02965.hp1
HG03209.hp1
HG02965.hp1
HG03209.hp1
 intron_variant MODIFIER c.-28+462G>A
c.-28+462G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098635
chr21:46098657 G
G
 T
T
 1 a0001c0002t0002g0333
a0001c0002t0002g0333
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-28+484G>T
c.-28+484G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098657
chr21:46098693 T
T
 A
A
 247 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(244): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 262 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(259): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+520T>A
c.-28+520T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098693
chr21:46098779 G
G
 A
A
 2 a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0022t0006g0050
a0001c0026t0006g0049
 2 HG02965.hp1
HG03209.hp1
HG02965.hp1
HG03209.hp1
 intron_variant MODIFIER c.-28+606G>A
c.-28+606G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098779
chr21:46098817 G
G
 A
A
 61 a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0002t0002g0253
others(58): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0003c0007t0002g0022
a0003c0007t0003g0235
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 62 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(59): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp2
HG01255.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18985.hp1
NA19030.hp1
NA19043.hp1
NA19065.hp2
NA19070.hp1
NA19080.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+644G>A
c.-28+644G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098817
chr21:46098835 A
A
 C
C
 1 a0003c0007t0007g0048
a0003c0007t0007g0048
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-28+662A>C
c.-28+662A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098835
chr21:46098835 A
A
 T
T
 3 a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
 3 HG02109.hp1
HG02647.hp2
HG03540.hp2
HG02109.hp1
HG02647.hp2
HG03540.hp2
 intron_variant MODIFIER c.-28+662A>T
c.-28+662A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098835
chr21:46098904 G
G
 A
A
 1 a0003c0004t0004g0097
a0003c0004t0004g0097
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.-28+731G>A
c.-28+731G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098904
chr21:46098977 C
C
 G
G
 1 a0003c0004t0004g0234
a0003c0004t0004g0234
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-28+804C>G
c.-28+804C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46098977
chr21:46099025 C
C
 G
G
 1 a0001c0001t0001g0233
a0001c0001t0001g0233
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-28+852C>G
c.-28+852C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099025
chr21:46099099 T
T
 C
C
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-28+926T>C
c.-28+926T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099099
chr21:46099112 G
G
 T
T
 61 a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
others(58): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0007t0002g0022
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 62 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(59): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp2
HG01255.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18985.hp1
NA19030.hp1
NA19065.hp2
NA19070.hp1
NA19080.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+939G>T
c.-28+939G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099112
chr21:46099261 G
G
 A
A
 119 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(116): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 130 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(127): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1088G>A
c.-28+1088G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099261
chr21:46099295 T
T
 A
A
 1 a0001c0001t0001g0032
a0001c0001t0001g0032
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-28+1122T>A
c.-28+1122T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099295
chr21:46099319 G
G
 T
T
 1 a0001c0002t0002g0332
a0001c0002t0002g0332
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.-28+1146G>T
c.-28+1146G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099319
chr21:46099360 G
G
 T
T
 93 a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
others(90): Show 
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 110 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(107): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.-28+1187G>T
c.-28+1187G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099360
chr21:46099395 C
C
 T
T
 229 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(226): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 257 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1222C>T
c.-28+1222C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099395
chr21:46099444 C
C
 G
G
 1 a0009c0032t0006g0229
a0009c0032t0006g0229
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-28+1271C>G
c.-28+1271C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099444
chr21:46099455 C
C
 CA
CA
 19 a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
others(16): Show 
a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0005t0001g0100
a0002c0003t0003g0021
a0002c0003t0003g0051
a0002c0003t0003g0053
a0003c0004t0003g0194
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0011g0193
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
 20 HG00597.hp1
HG01109.hp1
HG01257.hp2
others(17): Show 
HG00597.hp1
HG01109.hp1
HG01257.hp2
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG02145.hp2
HG02615.hp1
HG02630.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04228.hp2
NA18943.hp2
NA18944.hp1
NA18978.hp2
NA18994.hp2
NA19066.hp1
NA19084.hp1
 intron_variant MODIFIER c.-28+1309dupA
c.-28+1309dupA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099455
chr21:46099455 CA
CA
 C
C
 126 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0006t0005g0237
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0087
a0002c0008t0005g0093
a0003c0004t0004g0097
a0003c0007t0003g0235
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 138 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(135): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18964.hp1
NA18966.hp1
NA18972.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19082.hp1
NA19083.hp2
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1309delA
c.-28+1309delA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099455
chr21:46099455 CAA
CAA
 C
C
 25 a0001c0001t0001g0047
a0001c0001t0001g0192
a0001c0002t0002g0253
others(22): Show 
a0001c0001t0001g0047
a0001c0001t0001g0192
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0005t0001g0190
a0001c0005t0003g0251
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0022t0006g0050
a0001c0027t0003g0252
a0001c0028t0006g0247
a0002c0003t0003g0228
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0018t0003g0242
a0003c0018t0003g0243
a0008c0036t0008g0225
 25 HG01243.hp2
HG01261.hp2
HG01433.hp1
others(22): Show 
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01891.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03453.hp2
HG03490.hp2
HG03710.hp1
HG04115.hp2
NA18954.hp2
NA19003.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.-28+1308_-28+1309d
others(4): Show 
c.-28+1308_-28+1309delAA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099455
chr21:46099455 CAAAAA
CAAAAA
 C
C
 9 a0001c0001t0001g0274
a0001c0002t0002g0272
a0001c0002t0002g0273
others(6): Show 
a0001c0001t0001g0274
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0332
a0001c0002t0009g0256
a0001c0005t0001g0264
a0001c0013t0002g0275
 9 HG00423.hp1
HG00738.hp1
HG01346.hp2
others(6): Show 
HG00423.hp1
HG00738.hp1
HG01346.hp2
NA18949.hp2
NA18955.hp2
NA18972.hp2
NA18979.hp1
NA18981.hp2
NA19087.hp2
 intron_variant MODIFIER c.-28+1305_-28+1309d
others(7): Show 
c.-28+1305_-28+1309delAAAAA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099455
chr21:46099455 CAAAAAA
CAAAAAA
 C
C
 81 a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
others(78): Show 
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0013t0002g0001
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 98 HG00140.hp2
HG00544.hp2
HG00639.hp2
others(95): Show 
HG00140.hp2
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01168.hp1
HG01175.hp2
HG01346.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.-28+1304_-28+1309d
others(8): Show 
c.-28+1304_-28+1309delAAAAAA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099455
chr21:46099592 G
G
 T
T
 1 a0001c0002t0002g0331
a0001c0002t0002g0331
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.-28+1419G>T
c.-28+1419G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099592
chr21:46099621 T
T
 C
C
 260 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(257): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 275 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(272): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.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
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1448T>C
c.-28+1448T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099621
chr21:46099806 A
A
 G
G
 229 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(226): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 257 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(254): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1633A>G
c.-28+1633A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099806
chr21:46099871 A
A
 G
G
 4 a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
others(1): Show 
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0002c0003t0006g0065
 4 HG01884.hp2
HG01978.hp1
HG02257.hp2
others(1): Show 
HG01884.hp2
HG01978.hp1
HG02257.hp2
HG02258.hp2
 intron_variant MODIFIER c.-28+1698A>G
c.-28+1698A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099871
chr21:46099889 C
C
 CG
CG
 13 a0001c0006t0005g0064
a0002c0003t0003g0024
a0002c0003t0003g0030
others(10): Show 
a0001c0006t0005g0064
a0002c0003t0003g0024
a0002c0003t0003g0030
a0002c0003t0003g0053
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0092
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0008t0005g0025
a0002c0008t0005g0031
a0002c0008t0005g0093
a0004c0016t0003g0096
 13 HG00544.hp1
HG02145.hp1
HG02486.hp2
others(10): Show 
HG00544.hp1
HG02145.hp1
HG02486.hp2
HG02622.hp2
HG02818.hp2
HG03098.hp1
HG03195.hp2
HG03540.hp2
HG03669.hp1
HG03942.hp1
HG04184.hp1
HG04204.hp2
NA18985.hp1
 intron_variant MODIFIER c.-28+1716_-28+1717i
others(3): Show 
c.-28+1716_-28+1717insG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099889
chr21:46099889 C
C
 CTTTTTTT
CTTTTTTT
 10 a0001c0001t0001g0103
a0001c0001t0001g0128
a0001c0001t0001g0129
others(7): Show 
a0001c0001t0001g0103
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0233
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0003g0127
a0001c0005t0003g0251
a0001c0006t0006g0250
a0001c0012t0001g0240
 12 HG00280.hp2
HG01123.hp2
HG01256.hp2
others(9): Show 
HG00280.hp2
HG01123.hp2
HG01256.hp2
HG01496.hp1
HG01978.hp2
HG02280.hp1
HG02559.hp2
HG02809.hp2
HG03704.hp2
HG03710.hp2
NA18965.hp1
NA19054.hp1
 intron_variant MODIFIER c.-28+1733_-28+1739d
others(9): Show 
c.-28+1733_-28+1739dupTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 72 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0009
others(69): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0246
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0257
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 77 HG00140.hp1
HG00323.hp1
HG00609.hp1
others(74): Show 
HG00140.hp1
HG00323.hp1
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG02015.hp1
HG02083.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03834.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18964.hp1
NA18977.hp2
NA18979.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18990.hp2
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19055.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19082.hp1
NA19083.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+1732_-28+1739d
others(10): Show 
c.-28+1732_-28+1739dupTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 38 a0001c0001t0001g0007
a0001c0001t0001g0010
a0001c0001t0001g0011
others(35): Show 
a0001c0001t0001g0007
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0101
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0245
a0001c0002t0010g0123
a0001c0005t0001g0040
a0001c0005t0001g0118
a0001c0005t0002g0177
a0001c0006t0005g0236
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
 42 HG00558.hp1
HG00558.hp2
HG00738.hp2
others(39): Show 
HG00558.hp1
HG00558.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01106.hp2
HG01169.hp2
HG01257.hp1
HG01261.hp1
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02135.hp2
HG02622.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03579.hp2
HG03688.hp1
HG03927.hp1
HG04199.hp1
NA18941.hp1
NA18954.hp2
NA18966.hp1
NA18972.hp1
NA18982.hp1
NA18988.hp1
NA18994.hp1
NA18998.hp2
NA19000.hp1
NA19060.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19090.hp1
NA21309.hp2
 intron_variant MODIFIER c.-28+1731_-28+1739d
others(11): Show 
c.-28+1731_-28+1739dupTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 4 a0001c0001t0001g0035
a0001c0001t0001g0102
a0001c0001t0001g0125
others(1): Show 
a0001c0001t0001g0035
a0001c0001t0001g0102
a0001c0001t0001g0125
a0001c0001t0001g0189
 4 HG02055.hp1
HG04228.hp1
NA18950.hp1
others(1): Show 
HG02055.hp1
HG04228.hp1
NA18950.hp1
NA18978.hp2
 intron_variant MODIFIER c.-28+1730_-28+1739d
others(12): Show 
c.-28+1730_-28+1739dupTTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 CT
CT
 C
C
 39 a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0326
others(36): Show 
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0007g0201
a0001c0002t0010g0325
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0006t0006g0268
a0001c0013t0002g0275
a0002c0003t0001g0068
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0207
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0007t0001g0204
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
 40 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(37): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01346.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03239.hp2
HG03579.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18949.hp2
NA18981.hp2
NA19000.hp2
NA19030.hp1
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+1739delT
c.-28+1739delT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 CTT
CTT
 C
C
 73 a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
others(70): Show 
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0262
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 89 HG00423.hp1
HG00544.hp2
HG00639.hp2
others(86): Show 
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01074.hp2
HG01099.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA19089.hp2
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.-28+1738_-28+1739d
others(4): Show 
c.-28+1738_-28+1739delTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099889 CTTT
CTTT
 C
C
 11 a0001c0001t0001g0337
a0001c0002t0002g0270
a0001c0002t0002g0271
others(8): Show 
a0001c0001t0001g0337
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0265
a0001c0011t0001g0335
a0001c0011t0001g0336
 12 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(9): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01346.hp1
HG02080.hp1
NA18988.hp2
NA19089.hp1
 intron_variant MODIFIER c.-28+1737_-28+1739d
others(5): Show 
c.-28+1737_-28+1739delTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46099889
chr21:46099890 T
T
 G
G
 43 a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
others(40): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0051
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0007t0002g0022
a0004c0016t0003g0094
a0004c0035t0003g0095
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 44 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(41): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp2
HG01255.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19065.hp2
NA19070.hp1
NA19080.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.-28+1717T>G
c.-28+1717T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099890
chr21:46099891 T
T
 G
G
 6 a0002c0003t0001g0068
a0002c0003t0003g0066
a0002c0003t0003g0069
others(3): Show 
a0002c0003t0001g0068
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0006g0065
a0002c0003t0006g0067
a0003c0007t0003g0235
 6 HG02257.hp2
HG02922.hp1
HG02965.hp2
others(3): Show 
HG02257.hp2
HG02922.hp1
HG02965.hp2
HG06807.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+1718T>G
c.-28+1718T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099891
chr21:46099925 A
A
 T
T
 1 a0002c0034t0008g0046
a0002c0034t0008g0046
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.-28+1752A>T
c.-28+1752A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099925
chr21:46099942 G
G
 T
T
 1 a0001c0002t0002g0324
a0001c0002t0002g0324
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.-28+1769G>T
c.-28+1769G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099942
chr21:46099948 G
G
 C
C
 34 a0001c0001t0001g0052
a0001c0001t0001g0056
a0002c0003t0003g0008
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0015g0071
a0002c0003t0016g0086
a0003c0007t0002g0022
a0005c0015t0001g0082
 35 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(32): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp2
HG01255.hp2
HG02040.hp1
HG02071.hp2
HG02132.hp2
HG02135.hp1
HG02698.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18985.hp1
NA19065.hp2
NA19070.hp1
NA19080.hp1
NA20805.hp1
 intron_variant MODIFIER c.-28+1775G>C
c.-28+1775G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099948
chr21:46099961 A
A
 G
G
 1 a0001c0006t0005g0236
a0001c0006t0005g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-28+1788A>G
c.-28+1788A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46099961
chr21:46100081 G
G
 GT
GT
 4 a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0175
others(1): Show 
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0175
a0001c0014t0002g0323
 4 HG01106.hp2
NA18979.hp2
NA19003.hp1
others(1): Show 
HG01106.hp2
NA18979.hp2
NA19003.hp1
NA19055.hp2
 intron_variant MODIFIER c.-28+1915dupT
c.-28+1915dupT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46100081
chr21:46100221 G
G
 A
A
 2 a0001c0002t0002g0281
a0001c0025t0002g0282
a0001c0002t0002g0281
a0001c0025t0002g0282
 2 HG02922.hp2
HG03139.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.-28+2048G>A
c.-28+2048G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100221
chr21:46100310 G
G
 GTGTT
GTGTT
 3 a0001c0022t0006g0050
a0003c0007t0007g0013
a0003c0007t0007g0043
a0001c0022t0006g0050
a0003c0007t0007g0013
a0003c0007t0007g0043
 4 HG01516.hp1
HG01517.hp2
HG02965.hp1
others(1): Show 
HG01516.hp1
HG01517.hp2
HG02965.hp1
HG03239.hp2
 intron_variant MODIFIER c.-28+2156_-28+2159d
others(6): Show 
c.-28+2156_-28+2159dupTTTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46100310
chr21:46100346 G
G
 T
T
 137 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0018t0003g0242
a0003c0018t0003g0243
a0005c0015t0001g0162
 148 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(145): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+2173G>T
c.-28+2173G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100346
chr21:46100388 G
G
 A
A
 1 a0001c0002t0002g0283
a0001c0002t0002g0283
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.-28+2215G>A
c.-28+2215G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100388
chr21:46100498 A
A
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-28+2325A>G
c.-28+2325A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100498
chr21:46100510 G
G
 A
A
 133 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(130): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 144 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(141): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+2337G>A
c.-28+2337G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100510
chr21:46100688 T
T
 TA
TA
 137 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0018t0003g0242
a0003c0018t0003g0243
a0005c0015t0001g0162
 148 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(145): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+2517dupA
c.-28+2517dupA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46100688
chr21:46100747 G
G
 T
T
 7 a0001c0005t0003g0251
a0001c0006t0006g0239
a0001c0006t0006g0248
others(4): Show 
a0001c0005t0003g0251
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0027t0003g0252
a0001c0028t0006g0247
 7 HG01261.hp2
HG02559.hp2
HG02809.hp2
others(4): Show 
HG01261.hp2
HG02559.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
NA19030.hp2
 intron_variant MODIFIER c.-28+2574G>T
c.-28+2574G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100747
chr21:46100790 C
C
 G
G
 1 a0001c0005t0003g0251
a0001c0005t0003g0251
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.-28+2617C>G
c.-28+2617C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46100790
chr21:46101178 T
T
 C
C
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.-28+3005T>C
c.-28+3005T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101178
chr21:46101342 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+3169C>T
c.-28+3169C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101342
chr21:46101411 T
T
 A
A
 2 a0001c0005t0003g0251
a0001c0028t0006g0247
a0001c0005t0003g0251
a0001c0028t0006g0247
 2 HG02809.hp2
HG02976.hp1
HG02809.hp2
HG02976.hp1
 intron_variant MODIFIER c.-28+3238T>A
c.-28+3238T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101411
chr21:46101543 C
C
 T
T
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.-28+3370C>T
c.-28+3370C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101543
chr21:46101675 C
C
 T
T
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.-28+3502C>T
c.-28+3502C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101675
chr21:46101847 AT
AT
 A
A
 39 a0001c0001t0001g0056
a0001c0001t0001g0218
a0002c0003t0001g0068
others(36): Show 
a0001c0001t0001g0056
a0001c0001t0001g0218
a0002c0003t0001g0068
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0027
a0002c0003t0003g0053
a0002c0003t0003g0055
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0223
a0002c0003t0016g0086
a0002c0008t0005g0028
a0002c0008t0005g0031
a0002c0034t0008g0046
a0002c0040t0003g0230
a0003c0004t0004g0014
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0234
a0003c0004t0014g0214
a0003c0007t0003g0235
a0003c0007t0007g0196
a0005c0015t0001g0082
a0008c0036t0008g0225
 40 HG00438.hp2
HG00621.hp1
HG00621.hp2
others(37): Show 
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01255.hp2
HG01884.hp1
HG01981.hp2
HG02071.hp2
HG02083.hp2
HG02135.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03491.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18985.hp1
NA18999.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.-28+3702delT
c.-28+3702delT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATT
ATT
 A
A
 47 a0001c0001t0001g0052
a0001c0002t0007g0201
a0001c0006t0005g0064
others(44): Show 
a0001c0001t0001g0052
a0001c0002t0007g0201
a0001c0006t0005g0064
a0002c0003t0003g0008
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0054
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0231
a0002c0003t0008g0222
a0002c0003t0015g0071
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0003c0004t0004g0209
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0006c0037t0001g0088
a0006c0038t0001g0089
 49 HG00099.hp1
HG00323.hp2
HG00423.hp2
others(46): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG01109.hp2
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG02040.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp1
NA18994.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19080.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+3701_-28+3702d
others(4): Show 
c.-28+3701_-28+3702delTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTT
ATTT
 A
A
 9 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(6): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0002c0003t0003g0070
a0002c0003t0003g0228
a0002c0003t0008g0221
a0002c0003t0008g0224
a0002c0008t0005g0025
a0003c0007t0007g0048
 9 HG00099.hp2
HG01433.hp1
HG02145.hp1
others(6): Show 
HG00099.hp2
HG01433.hp1
HG02145.hp1
HG02559.hp1
HG02615.hp2
HG02970.hp1
HG04204.hp1
NA18906.hp2
NA18949.hp1
 intron_variant MODIFIER c.-28+3700_-28+3702d
others(5): Show 
c.-28+3700_-28+3702delTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
ATTTTTTT
 A
A
 27 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0274
others(24): Show 
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0274
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0280
a0001c0002t0002g0283
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0327
a0001c0002t0002g0333
a0001c0002t0009g0020
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0005t0001g0264
a0001c0005t0001g0330
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0014t0002g0321
a0001c0025t0002g0282
a0001c0027t0003g0252
a0003c0004t0002g0328
 30 HG00140.hp2
HG00735.hp2
HG01099.hp2
others(27): Show 
HG00140.hp2
HG00735.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01346.hp1
HG01346.hp2
HG01884.hp2
HG02080.hp2
HG03139.hp2
HG03486.hp1
HG03540.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18978.hp1
NA18986.hp2
NA18988.hp2
NA19000.hp2
NA19010.hp1
NA19030.hp2
NA19065.hp1
NA19079.hp2
NA19083.hp1
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.-28+3696_-28+3702d
others(9): Show 
c.-28+3696_-28+3702delTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
others(1): Show 
ATTTTTTTT
 A
A
 61 a0001c0001t0001g0047
a0001c0001t0001g0304
a0001c0001t0001g0305
others(58): Show 
a0001c0001t0001g0047
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0279
a0001c0002t0002g0281
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0005g0292
a0001c0002t0009g0256
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0006t0005g0236
a0001c0006t0006g0267
a0001c0006t0008g0303
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 75 HG00423.hp1
HG00544.hp2
HG00639.hp2
others(72): Show 
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02723.hp1
HG02886.hp2
HG02922.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19066.hp2
NA19068.hp1
NA19082.hp2
NA19084.hp2
NA19087.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.-28+3695_-28+3702d
others(10): Show 
c.-28+3695_-28+3702delTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 A
A
 21 a0001c0001t0001g0113
a0001c0001t0001g0170
a0001c0001t0001g0175
others(18): Show 
a0001c0001t0001g0113
a0001c0001t0001g0170
a0001c0001t0001g0175
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0285
a0001c0002t0002g0270
a0001c0002t0002g0278
a0001c0002t0002g0284
a0001c0005t0001g0171
a0001c0005t0003g0251
a0001c0006t0006g0266
a0001c0006t0006g0268
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0023t0001g0034
a0001c0028t0006g0247
a0003c0004t0004g0208
 21 HG00738.hp2
HG01168.hp1
HG01169.hp1
others(18): Show 
HG00738.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG02056.hp2
HG02809.hp2
HG02897.hp1
HG02976.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp1
NA18950.hp2
NA18972.hp1
NA18977.hp1
NA18979.hp2
NA18981.hp1
NA18994.hp1
NA19060.hp2
NA19087.hp1
NA19089.hp2
 intron_variant MODIFIER c.-28+3694_-28+3702d
others(11): Show 
c.-28+3694_-28+3702delTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 A
A
 102 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(99): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0002g0177
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0018t0003g0242
a0003c0018t0003g0243
a0005c0015t0001g0162
 111 HG00140.hp1
HG00323.hp1
HG00558.hp1
others(108): Show 
HG00140.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+3693_-28+3702d
others(12): Show 
c.-28+3693_-28+3702delTTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 A
A
 14 a0001c0001t0001g0032
a0001c0001t0001g0125
a0001c0001t0001g0126
others(11): Show 
a0001c0001t0001g0032
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0005t0001g0005
a0001c0005t0001g0104
a0001c0005t0001g0130
a0001c0005t0001g0190
a0001c0005t0003g0127
a0001c0006t0006g0239
a0003c0004t0003g0194
a0003c0004t0011g0200
 16 HG00280.hp1
HG00280.hp2
HG01123.hp2
others(13): Show 
HG00280.hp1
HG00280.hp2
HG01123.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp2
HG01496.hp1
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG03927.hp1
HG04228.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-28+3692_-28+3702d
others(13): Show 
c.-28+3692_-28+3702delTTTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101847 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 A
A
 1 a0003c0004t0011g0193
a0003c0004t0011g0193
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-28+3691_-28+3702d
others(14): Show 
c.-28+3691_-28+3702delTTTTTTTTTTTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101847
chr21:46101933 G
G
 GA
GA
 132 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(129): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0276
a0001c0002t0002g0286
a0001c0002t0010g0123
a0001c0002t0010g0325
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 143 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(140): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+3770dupA
c.-28+3770dupA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46101933
chr21:46101982 T
T
 G
G
 133 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(130): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 144 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(141): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+3809T>G
c.-28+3809T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46101982
chr21:46102145 A
A
 G
G
 1 a0002c0003t0003g0092
a0002c0003t0003g0092
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-28+3972A>G
c.-28+3972A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102145
chr21:46102185 C
C
 A
A
 85 a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
others(82): Show 
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0007c0042t0002g0287
 102 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(99): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.-28+4012C>A
c.-28+4012C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102185
chr21:46102222 G
G
 C
C
 291 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(288): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
 320 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(317): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+4049G>C
c.-28+4049G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102222
chr21:46102652 C
C
 G
G
 1 a0003c0004t0004g0045
a0003c0004t0004g0045
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-28+4479C>G
c.-28+4479C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102652
chr21:46102683 G
G
 A
A
 3 a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0040t0003g0230
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0040t0003g0230
 3 HG02809.hp1
HG02818.hp2
HG03195.hp2
HG02809.hp1
HG02818.hp2
HG03195.hp2
 intron_variant MODIFIER c.-28+4510G>A
c.-28+4510G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102683
chr21:46102706 A
A
 AT
AT
 109 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(106): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0337
a0001c0002t0002g0309
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0008t0005g0025
a0005c0015t0001g0162
 120 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(117): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18965.hp1
NA18966.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18988.hp1
NA18990.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+4546dupT
c.-28+4546dupT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46102706
chr21:46102706 A
A
 ATT
ATT
 7 a0001c0001t0001g0047
a0001c0001t0001g0166
a0001c0001t0001g0167
others(4): Show 
a0001c0001t0001g0047
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0187
a0001c0001t0001g0245
 7 HG02083.hp1
NA18747.hp1
NA18964.hp1
others(4): Show 
HG02083.hp1
NA18747.hp1
NA18964.hp1
NA18972.hp1
NA18994.hp1
NA19003.hp1
NA19091.hp1
 intron_variant MODIFIER c.-28+4545_-28+4546d
others(4): Show 
c.-28+4545_-28+4546dupTT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46102706
chr21:46102706 AT
AT
 A
A
 99 a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0218
others(96): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0218
a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0022t0006g0050
a0001c0026t0006g0049
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0033t0007g0202
a0004c0016t0003g0096
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 102 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00733.hp1
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01433.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18977.hp1
NA18985.hp1
NA18994.hp2
NA18999.hp1
NA19043.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19080.hp1
NA19082.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-28+4546delT
c.-28+4546delT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46102706
chr21:46102885 T
T
 C
C
 230 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(227): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0003g0235
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 258 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(255): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+4712T>C
c.-28+4712T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102885
chr21:46102934 A
A
 G
G
 338 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(335): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 369 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(366): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.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
HG01433.hp1
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+4761A>G
c.-28+4761A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46102934
chr21:46103062 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.-28+4889C>T
c.-28+4889C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103062
chr21:46103503 C
C
 G
G
 62 a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
others(59): Show 
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0007t0002g0022
a0003c0007t0003g0235
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 63 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(60): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp2
HG01255.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18985.hp1
NA19030.hp1
NA19065.hp2
NA19070.hp1
NA19080.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.-28+5330C>G
c.-28+5330C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103503
chr21:46103578 G
G
 A
A
 2 a0001c0001t0001g0166
a0001c0001t0001g0178
a0001c0001t0001g0166
a0001c0001t0001g0178
 2 HG00558.hp2
NA19091.hp1
HG00558.hp2
NA19091.hp1
 intron_variant MODIFIER c.-28+5405G>A
c.-28+5405G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103578
chr21:46103676 G
G
 T
T
 1 a0001c0005t0001g0263
a0001c0005t0001g0263
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.-28+5503G>T
c.-28+5503G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103676
chr21:46103691 G
G
 A
A
 4 a0001c0002t0002g0253
a0001c0002t0002g0254
a0002c0008t0001g0090
others(1): Show 
a0001c0002t0002g0253
a0001c0002t0002g0254
a0002c0008t0001g0090
a0002c0008t0001g0091
 4 HG02630.hp1
HG02717.hp1
HG06807.hp1
others(1): Show 
HG02630.hp1
HG02717.hp1
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.-28+5518G>A
c.-28+5518G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103691
chr21:46103754 T
T
 A
A
 1 a0002c0003t0003g0070
a0002c0003t0003g0070
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.-28+5581T>A
c.-28+5581T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103754
chr21:46103815 C
C
 T
T
 9 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
others(6): Show 
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0005t0001g0264
a0001c0011t0001g0335
a0001c0011t0001g0336
 10 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(7): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.-28+5642C>T
c.-28+5642C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103815
chr21:46103906 C
C
 T
T
 1 a0001c0005t0002g0177
a0001c0005t0002g0177
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-28+5733C>T
c.-28+5733C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103906
chr21:46103918 C
C
 G
G
 340 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(337): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 371 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(368): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.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
HG01433.hp1
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+5745C>G
c.-28+5745C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103918
chr21:46103925 A
A
 T
T
 7 a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
others(4): Show 
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
 7 HG00423.hp2
HG00597.hp1
NA18941.hp2
others(4): Show 
HG00423.hp2
HG00597.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
 intron_variant MODIFIER c.-28+5752A>T
c.-28+5752A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103925
chr21:46103976 A
A
 G
G
 1 a0003c0007t0003g0235
a0003c0007t0003g0235
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-28+5803A>G
c.-28+5803A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46103976
chr21:46104149 A
A
 C
C
 3 a0001c0006t0005g0236
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0006t0005g0236
a0001c0012t0001g0240
a0001c0012t0001g0257
 3 HG01243.hp2
HG02280.hp1
NA21309.hp2
HG01243.hp2
HG02280.hp1
NA21309.hp2
 intron_variant MODIFIER c.-28+5976A>C
c.-28+5976A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104149
chr21:46104150 A
A
 G
G
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-28+5977A>G
c.-28+5977A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104150
chr21:46104151 G
G
 A
A
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-28+5978G>A
c.-28+5978G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104151
chr21:46104171 GA
GA
 G
G
 131 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(128): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 142 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(139): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+6007delA
c.-28+6007delA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46104171
chr21:46104172 A
A
 G
G
 1 a0002c0034t0008g0046
a0002c0034t0008g0046
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.-28+5999A>G
c.-28+5999A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104172
chr21:46104269 A
A
 G
G
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.-28+6096A>G
c.-28+6096A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104269
chr21:46104466 A
A
 C
C
 137 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0259
a0001c0002t0002g0308
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 148 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(145): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-28+6293A>C
c.-28+6293A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104466
chr21:46104518 G
G
 T
T
 5 a0002c0003t0003g0228
a0002c0003t0008g0222
a0002c0003t0008g0224
others(2): Show 
a0002c0003t0003g0228
a0002c0003t0008g0222
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
 5 HG01433.hp1
HG02055.hp2
HG02970.hp1
others(2): Show 
HG01433.hp1
HG02055.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
 intron_variant MODIFIER c.-28+6345G>T
c.-28+6345G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104518
chr21:46104570 T
T
 C
C
 1 a0002c0008t0001g0090
a0002c0008t0001g0090
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-28+6397T>C
c.-28+6397T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104570
chr21:46104701 A
A
 G
G
 4 a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0196
others(1): Show 
a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0196
a0003c0007t0007g0203
 5 HG01516.hp1
HG01517.hp2
HG01981.hp2
others(2): Show 
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
 intron_variant MODIFIER c.-28+6528A>G
c.-28+6528A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104701
chr21:46104702 G
G
 C
C
 1 a0003c0018t0003g0242
a0003c0018t0003g0242
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-28+6529G>C
c.-28+6529G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104702
chr21:46104844 A
A
 G
G
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.-27-6606A>G
c.-27-6606A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104844
chr21:46104900 A
A
 T
T
 1 a0003c0007t0007g0048
a0003c0007t0007g0048
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-27-6550A>T
c.-27-6550A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46104900
chr21:46105042 C
C
 T
T
 132 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(129): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 143 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(140): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-6408C>T
c.-27-6408C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105042
chr21:46105160 T
T
 A
A
 1 a0002c0008t0005g0031
a0002c0008t0005g0031
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-27-6290T>A
c.-27-6290T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105160
chr21:46105190 C
C
 T
T
 3 a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
 3 HG01884.hp2
HG01978.hp1
HG02258.hp2
HG01884.hp2
HG01978.hp1
HG02258.hp2
 intron_variant MODIFIER c.-27-6260C>T
c.-27-6260C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105190
chr21:46105333 C
C
 G
G
 3 a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
 3 HG02145.hp2
HG02615.hp1
HG02717.hp2
HG02145.hp2
HG02615.hp1
HG02717.hp2
 intron_variant MODIFIER c.-27-6117C>G
c.-27-6117C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105333
chr21:46105393 A
A
 G
G
 1 a0002c0003t0006g0065
a0002c0003t0006g0065
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.-27-6057A>G
c.-27-6057A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105393
chr21:46105426 T
T
 C
C
 9 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
others(6): Show 
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0005t0001g0264
a0001c0011t0001g0335
a0001c0011t0001g0336
 10 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(7): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.-27-6024T>C
c.-27-6024T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105426
chr21:46105771 A
A
 G
G
 1 a0001c0005t0002g0177
a0001c0005t0002g0177
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-27-5679A>G
c.-27-5679A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105771
chr21:46105910 A
A
 C
C
 1 a0002c0003t0001g0068
a0002c0003t0001g0068
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-27-5540A>C
c.-27-5540A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46105910
chr21:46106042 C
C
 T
T
 1 a0003c0004t0004g0207
a0003c0004t0004g0207
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-27-5408C>T
c.-27-5408C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106042
chr21:46106229 A
A
 G
G
 1 a0003c0007t0007g0195
a0003c0007t0007g0195
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-27-5221A>G
c.-27-5221A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106229
chr21:46106326 G
G
 A
A
 235 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(232): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 263 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(260): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-5124G>A
c.-27-5124G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106326
chr21:46106805 G
G
 A
A
 125 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0003g0080
a0005c0015t0001g0162
 136 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(133): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-4645G>A
c.-27-4645G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106805
chr21:46106864 T
T
 C
C
 1 a0002c0003t0003g0055
a0002c0003t0003g0055
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.-27-4586T>C
c.-27-4586T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106864
chr21:46106966 A
A
 T
T
 1 a0001c0005t0001g0165
a0001c0005t0001g0165
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.-27-4484A>T
c.-27-4484A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46106966
chr21:46107031 C
C
 T
T
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-27-4419C>T
c.-27-4419C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107031
chr21:46107221 T
T
 G
G
 3 a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
 3 HG01884.hp2
HG01978.hp1
HG02258.hp2
HG01884.hp2
HG01978.hp1
HG02258.hp2
 intron_variant MODIFIER c.-27-4229T>G
c.-27-4229T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107221
chr21:46107278 C
C
 G
G
 237 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(234): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 265 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(262): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-4172C>G
c.-27-4172C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107278
chr21:46107294 G
G
 A
A
 237 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(234): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 265 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(262): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-4156G>A
c.-27-4156G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107294
chr21:46107355 T
T
 C
C
 283 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(280): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 313 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(310): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-4095T>C
c.-27-4095T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107355
chr21:46107455 T
T
 C
C
 100 a0001c0001t0001g0139
a0001c0001t0001g0173
a0001c0001t0001g0188
others(97): Show 
a0001c0001t0001g0139
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0236
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 117 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(114): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02630.hp1
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-27-3995T>C
c.-27-3995T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107455
chr21:46107496 T
T
 A
A
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.-27-3954T>A
c.-27-3954T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107496
chr21:46107594 G
G
 A
A
 237 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(234): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
 265 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(262): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-3856G>A
c.-27-3856G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107594
chr21:46107695 T
T
 G
G
 1 a0003c0004t0004g0208
a0003c0004t0004g0208
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.-27-3755T>G
c.-27-3755T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107695
chr21:46107798 C
C
 G
G
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-3652C>G
c.-27-3652C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107798
chr21:46107974 T
T
 G
G
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-3476T>G
c.-27-3476T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46107974
chr21:46108105 TA
TA
 T
T
 52 a0001c0001t0001g0218
a0001c0001t0001g0274
a0001c0001t0001g0285
others(49): Show 
a0001c0001t0001g0218
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0017
a0001c0002t0002g0286
a0001c0002t0002g0306
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0019t0002g0017
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0008c0036t0008g0225
a0009c0032t0006g0229
 54 HG00140.hp2
HG00438.hp2
HG00735.hp2
others(51): Show 
HG00140.hp2
HG00438.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01106.hp1
HG01257.hp2
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01978.hp1
HG02055.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18747.hp2
NA18942.hp2
NA18972.hp2
NA18977.hp1
NA18984.hp1
NA18990.hp1
NA18999.hp1
NA19009.hp1
NA19012.hp2
NA19043.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.-27-3344delA
c.-27-3344delA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108105
chr21:46108106 A
A
 T
T
 7 a0001c0001t0001g0102
a0001c0001t0001g0178
a0001c0027t0003g0252
others(4): Show 
a0001c0001t0001g0102
a0001c0001t0001g0178
a0001c0027t0003g0252
a0001c0028t0006g0247
a0002c0003t0003g0080
a0002c0003t0003g0092
a0002c0003t0016g0086
 7 HG00558.hp2
HG00621.hp2
HG02976.hp1
others(4): Show 
HG00558.hp2
HG00621.hp2
HG02976.hp1
HG03239.hp1
NA18978.hp2
NA18985.hp1
NA19030.hp2
 intron_variant MODIFIER c.-27-3344A>T
c.-27-3344A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108106
chr21:46108106 AT
AT
 A
A
 77 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
others(74): Show 
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0198
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 93 HG00423.hp1
HG00544.hp2
HG00639.hp1
others(90): Show 
HG00423.hp1
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp2
 intron_variant MODIFIER c.-27-3335delT
c.-27-3335delT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46108106
chr21:46108108 T
T
 A
A
 32 a0001c0001t0001g0105
a0001c0001t0001g0139
a0001c0001t0001g0140
others(29): Show 
a0001c0001t0001g0105
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0005t0001g0130
a0001c0006t0005g0236
a0001c0012t0001g0240
a0001c0012t0001g0257
a0002c0003t0001g0068
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0030
a0002c0003t0003g0062
a0002c0003t0003g0069
a0002c0003t0003g0072
a0002c0003t0003g0081
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0015g0071
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0003c0007t0002g0022
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0006c0037t0001g0088
 32 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(29): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG01243.hp2
HG02015.hp1
HG02040.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG03540.hp2
HG03669.hp1
HG03831.hp2
HG04184.hp1
NA18522.hp2
NA18906.hp1
NA18990.hp2
NA19030.hp1
NA19080.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.-27-3342T>A
c.-27-3342T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108108
chr21:46108109 T
T
 A
A
 1 a0001c0002t0012g0288
a0001c0002t0012g0288
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.-27-3341T>A
c.-27-3341T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108109
chr21:46108750 A
A
 G
G
 1 a0002c0003t0003g0079
a0002c0003t0003g0079
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.-27-2700A>G
c.-27-2700A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108750
chr21:46108856 C
C
 T
T
 4 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(1): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
 4 HG01261.hp2
HG02559.hp2
HG02896.hp2
others(1): Show 
HG01261.hp2
HG02559.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.-27-2594C>T
c.-27-2594C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108856
chr21:46108996 G
G
 A
A
 117 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(114): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0040
a0001c0005t0001g0110
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0003g0073
a0002c0003t0003g0074
a0005c0015t0001g0162
 126 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(123): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-2454G>A
c.-27-2454G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46108996
chr21:46109229 G
G
 A
A
 6 a0001c0002t0007g0201
a0003c0007t0007g0013
a0003c0007t0007g0043
others(3): Show 
a0001c0002t0007g0201
a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0196
a0003c0007t0007g0203
a0003c0033t0007g0202
 7 HG01243.hp1
HG01516.hp1
HG01517.hp2
others(4): Show 
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA20752.hp1
 intron_variant MODIFIER c.-27-2221G>A
c.-27-2221G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109229
chr21:46109311 G
G
 A
A
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-2139G>A
c.-27-2139G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109311
chr21:46109327 G
G
 A
A
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-2123G>A
c.-27-2123G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109327
chr21:46109426 C
C
 T
T
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-2024C>T
c.-27-2024C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109426
chr21:46109434 G
G
 A
A
 94 a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
others(91): Show 
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 111 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(108): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.-27-2016G>A
c.-27-2016G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109434
chr21:46109442 C
C
 T
T
 2 a0001c0006t0006g0239
a0001c0006t0006g0250
a0001c0006t0006g0239
a0001c0006t0006g0250
 2 HG01261.hp2
HG02559.hp2
HG01261.hp2
HG02559.hp2
 intron_variant MODIFIER c.-27-2008C>T
c.-27-2008C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109442
chr21:46109443 G
G
 A
A
 2 a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0141
a0001c0005t0003g0142
 2 HG00323.hp1
HG03017.hp2
HG00323.hp1
HG03017.hp2
 intron_variant MODIFIER c.-27-2007G>A
c.-27-2007G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109443
chr21:46109451 G
G
 A
A
 4 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(1): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
 4 HG01261.hp2
HG02559.hp2
HG02896.hp2
others(1): Show 
HG01261.hp2
HG02559.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.-27-1999G>A
c.-27-1999G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109451
chr21:46109522 C
C
 G
G
 1 a0002c0003t0003g0092
a0002c0003t0003g0092
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-27-1928C>G
c.-27-1928C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109522
chr21:46109532 C
C
 T
T
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-1918C>T
c.-27-1918C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109532
chr21:46109823 G
G
 T
T
 2 a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0010t0001g0172
a0001c0010t0001g0191
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.-27-1627G>T
c.-27-1627G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109823
chr21:46109874 T
T
 C
C
 1 a0001c0002t0002g0272
a0001c0002t0002g0272
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-27-1576T>C
c.-27-1576T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109874
chr21:46109908 T
T
 C
C
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.-27-1542T>C
c.-27-1542T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109908
chr21:46109978 A
A
 G
G
 1 a0002c0008t0005g0025
a0002c0008t0005g0025
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-27-1472A>G
c.-27-1472A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46109978
chr21:46110149 A
A
 G
G
 1 a0003c0004t0002g0314
a0003c0004t0002g0314
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.-27-1301A>G
c.-27-1301A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110149
chr21:46110284 C
C
 T
T
 1 a0002c0003t0003g0023
a0002c0003t0003g0023
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-27-1166C>T
c.-27-1166C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110284
chr21:46110375 A
A
 C
C
 291 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(288): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 321 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(318): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-1075A>C
c.-27-1075A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110375
chr21:46110401 G
G
 A
A
 1 a0003c0007t0007g0197
a0003c0007t0007g0197
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-27-1049G>A
c.-27-1049G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110401
chr21:46110476 A
A
 G
G
 4 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(1): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
 4 HG01261.hp2
HG02559.hp2
HG02896.hp2
others(1): Show 
HG01261.hp2
HG02559.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.-27-974A>G
c.-27-974A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110476
chr21:46110629 G
G
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.-27-821G>A
c.-27-821G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110629
chr21:46110688 T
T
 C
C
 145 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(142): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0009g0262
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0018t0003g0242
a0003c0018t0003g0243
a0005c0015t0001g0162
 156 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(153): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-762T>C
c.-27-762T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110688
chr21:46110721 G
G
 A
A
 1 a0008c0036t0008g0225
a0008c0036t0008g0225
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-27-729G>A
c.-27-729G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110721
chr21:46110772 C
C
 T
T
 2 a0001c0006t0006g0239
a0001c0006t0006g0250
a0001c0006t0006g0239
a0001c0006t0006g0250
 2 HG01261.hp2
HG02559.hp2
HG01261.hp2
HG02559.hp2
 intron_variant MODIFIER c.-27-678C>T
c.-27-678C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110772
chr21:46110777 A
A
 AGCACAGT
others(46): Show 
AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGCGGAGTCA
GCGG
 134 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(131): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 145 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(142): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-644_-27-643ins
others(53): Show 
c.-27-644_-27-643insAGCTCCACTCTGCGGAGTCAGCGGGCACAG
TGAGGCCCGTCCTGATGGCCTCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46110777
chr21:46110777 A
A
 AGCACAGT
others(46): Show 
AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGTGGAGTCA
GCGG
 1 a0001c0027t0003g0252
a0001c0027t0003g0252
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-27-644_-27-643ins
others(53): Show 
c.-27-644_-27-643insAGCTCCACTCTGTGGAGTCAGCGGGCACAG
TGAGGCCCGTCCTGATGGCCTCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 INFO_REALIGN_3_PRIME chr21 46110777
chr21:46110777 A
A
 G
G
 2 a0001c0006t0006g0239
a0001c0006t0006g0250
a0001c0006t0006g0239
a0001c0006t0006g0250
 2 HG01261.hp2
HG02559.hp2
HG01261.hp2
HG02559.hp2
 intron_variant MODIFIER c.-27-673A>G
c.-27-673A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46110777
chr21:46111076 T
T
 C
C
 284 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(281): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 314 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(311): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-374T>C
c.-27-374T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111076
chr21:46111154 C
C
 T
T
 1 a0001c0006t0008g0303
a0001c0006t0008g0303
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-27-296C>T
c.-27-296C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111154
chr21:46111164 C
C
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.-27-286C>A
c.-27-286C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111164
chr21:46111165 A
A
 G
G
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.-27-285A>G
c.-27-285A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111165
chr21:46111185 G
G
 T
T
 5 a0001c0002t0010g0123
a0001c0005t0001g0165
a0001c0005t0001g0171
others(2): Show 
a0001c0002t0010g0123
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0003g0141
a0001c0005t0003g0142
 5 HG00323.hp1
HG00741.hp1
HG01168.hp2
others(2): Show 
HG00323.hp1
HG00741.hp1
HG01168.hp2
HG01255.hp1
HG03017.hp2
 intron_variant MODIFIER c.-27-265G>T
c.-27-265G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111185
chr21:46111207 C
C
 A
A
 6 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(3): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0027t0003g0252
a0001c0028t0006g0247
 6 HG02559.hp1
HG02615.hp2
HG02976.hp1
others(3): Show 
HG02559.hp1
HG02615.hp2
HG02976.hp1
HG03098.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.-27-243C>A
c.-27-243C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111207
chr21:46111272 C
C
 T
T
 1 a0002c0003t0003g0085
a0002c0003t0003g0085
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.-27-178C>T
c.-27-178C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111272
chr21:46111301 C
C
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0002g0333
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 137 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(134): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-27-149C>T
c.-27-149C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111301
chr21:46111302 G
G
 A
A
 3 a0001c0002t0002g0003
a0001c0002t0002g0315
a0007c0042t0002g0287
a0001c0002t0002g0003
a0001c0002t0002g0315
a0007c0042t0002g0287
 6 HG02040.hp2
NA18964.hp2
NA18978.hp1
others(3): Show 
HG02040.hp2
NA18964.hp2
NA18978.hp1
NA18989.hp1
NA19068.hp1
NA19084.hp2
 intron_variant MODIFIER c.-27-148G>A
c.-27-148G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111302
chr21:46111316 G
G
 A
A
 3 a0001c0006t0005g0236
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0006t0005g0236
a0001c0012t0001g0240
a0001c0012t0001g0257
 3 HG01243.hp2
HG02280.hp1
NA21309.hp2
HG01243.hp2
HG02280.hp1
NA21309.hp2
 intron_variant MODIFIER c.-27-134G>A
c.-27-134G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111316
chr21:46111316 G
G
 C
C
 1 a0006c0038t0001g0089
a0006c0038t0001g0089
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-27-134G>C
c.-27-134G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111316
chr21:46111361 G
G
 A
A
 4 a0001c0001t0001g0102
a0001c0005t0001g0263
a0001c0005t0001g0329
others(1): Show 
a0001c0001t0001g0102
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
 4 HG01884.hp2
HG01978.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG01978.hp1
HG02258.hp2
NA18978.hp2
 intron_variant MODIFIER c.-27-89G>A
c.-27-89G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111361
chr21:46111409 A
A
 C
C
 2 a0001c0001t0001g0163
a0001c0001t0001g0184
a0001c0001t0001g0163
a0001c0001t0001g0184
 2 NA18941.hp1
NA19055.hp1
NA18941.hp1
NA19055.hp1
 intron_variant MODIFIER c.-27-41A>C
c.-27-41A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 1/27 chr21 46111409
chr21:46111586 GCCCAGGT
others(55): Show 
GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA
GTTGGGACCAGTA
 G
G
 150 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(147): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.116-190_116-129del
others(62): Show 
c.116-190_116-129delCGGGGGCCGGGGGCTCTGGGCATTTGGGGG
GCAGTTGGGACCAGTACCCAGGTGCCAGGGGT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 INFO_REALIGN_3_PRIME chr21 46111586
chr21:46111586 GCCCAGGT
others(117): Show 
GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA
GTTGGGACCAGTACCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGC
ATTTGGGGGGCAGTTGGGACCAGTA
 G
G
 78 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0274
others(75): Show 
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
 94 HG00423.hp1
HG00544.hp2
HG00639.hp2
others(91): Show 
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.115+136_116-129del
c.115+136_116-129del
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 INFO_REALIGN_3_PRIME chr21 46111586
chr21:46111673 GGGGGCTC
others(116): Show 
GGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAGGTGCCAG
GGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTA
CCCAGGTGCCAGGGGTCGGGGGCC
 G
G
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.115+87_116-179del
c.115+87_116-179del
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 INFO_REALIGN_3_PRIME chr21 46111673
chr21:46111728 GGGGGCCG
others(54): Show 
GGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAG
GTGCCAGGGGTC
 G
G
 1 a0005c0015t0001g0162
a0005c0015t0001g0162
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.115+142_116-186del
others(61): Show 
c.115+142_116-186delCCGGGGGCTCTGGGCATTTGGGGGGCAGTT
GGGACCAGTACCCAGGTGCCAGGGGTCGGGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 INFO_REALIGN_3_PRIME chr21 46111728
chr21:46111734 C
C
 T
T
 1 a0001c0012t0001g0257
a0001c0012t0001g0257
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.115+143C>T
c.115+143C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 chr21 46111734
chr21:46111765 G
G
 T
T
 2 a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0014t0002g0321
a0001c0014t0002g0323
 2 NA19055.hp2
NA19088.hp2
NA19055.hp2
NA19088.hp2
 intron_variant MODIFIER c.115+174G>T
c.115+174G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 chr21 46111765
chr21:46111859 G
G
 A
A
 1 a0002c0003t0003g0073
a0002c0003t0003g0073
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.116-120G>A
c.116-120G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 chr21 46111859
chr21:46111863 G
G
 A
A
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.116-116G>A
c.116-116G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 chr21 46111863
chr21:46111945 G
G
 A
A
 5 a0001c0001t0001g0131
a0001c0001t0001g0144
a0001c0001t0001g0174
others(2): Show 
a0001c0001t0001g0131
a0001c0001t0001g0144
a0001c0001t0001g0174
a0001c0001t0001g0179
a0001c0029t0001g0143
 5 HG01069.hp1
HG01071.hp2
HG01516.hp2
others(2): Show 
HG01069.hp1
HG01071.hp2
HG01516.hp2
HG02683.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.116-34G>A
c.116-34G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 2/27 chr21 46111945
chr21:46112586 C
C
 T
T
 7 a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0104
others(4): Show 
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0104
a0001c0005t0001g0112
a0001c0005t0001g0190
a0001c0005t0003g0127
a0001c0005t0003g0251
 9 HG00280.hp2
HG01123.hp2
HG01256.hp2
others(6): Show 
HG00280.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01496.hp1
HG02602.hp1
HG02809.hp2
HG03704.hp2
NA20752.hp2
 intron_variant MODIFIER c.714+9C>T
c.714+9C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112586
chr21:46112593 G
G
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.714+16G>A
c.714+16G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112593
chr21:46112594 A
A
 G
G
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.714+17A>G
c.714+17A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112594
chr21:46112606 G
G
 A
A
 12 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(9): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0027t0003g0252
a0001c0028t0006g0247
 12 HG01261.hp2
HG01891.hp1
HG02559.hp1
others(9): Show 
HG01261.hp2
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.714+29G>A
c.714+29G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112606
chr21:46112622 C
C
 T
T
 80 a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
others(77): Show 
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
a0007c0042t0002g0287
 96 HG00423.hp1
HG00544.hp2
HG00639.hp2
others(93): Show 
HG00423.hp1
HG00544.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01884.hp2
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02258.hp2
HG02630.hp1
HG02723.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.714+45C>T
c.714+45C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112622
chr21:46112630 C
C
 T
T
 124 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(121): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0002t0010g0123
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 135 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(132): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.714+53C>T
c.714+53C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112630
chr21:46112639 A
A
 G
G
 7 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
others(4): Show 
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0005t0001g0264
 8 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(5): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01346.hp2
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.714+62A>G
c.714+62A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112639
chr21:46112679 G
G
 A
A
 13 a0001c0005t0001g0165
a0001c0006t0005g0057
a0001c0006t0005g0058
others(10): Show 
a0001c0005t0001g0165
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0027t0003g0252
a0001c0028t0006g0247
 13 HG01168.hp2
HG01261.hp2
HG01891.hp1
others(10): Show 
HG01168.hp2
HG01261.hp2
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.714+102G>A
c.714+102G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112679
chr21:46112725 C
C
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.715-79C>A
c.715-79C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112725
chr21:46112726 A
A
 T
T
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.715-78A>T
c.715-78A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 3/27 chr21 46112726
chr21:46112884 G
G
 A
A
 1 a0001c0006t0008g0303
a0001c0006t0008g0303
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.735+60G>A
c.735+60G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46112884
chr21:46113018 C
C
 T
T
 1 a0001c0022t0006g0050
a0001c0022t0006g0050
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.735+194C>T
c.735+194C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113018
chr21:46113245 C
C
 T
T
 3 a0001c0001t0001g0131
a0001c0001t0001g0144
a0001c0001t0001g0179
a0001c0001t0001g0131
a0001c0001t0001g0144
a0001c0001t0001g0179
 3 HG01069.hp1
HG01071.hp2
HG02683.hp2
HG01069.hp1
HG01071.hp2
HG02683.hp2
 intron_variant MODIFIER c.735+421C>T
c.735+421C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113245
chr21:46113246 G
G
 A
A
 3 a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
 3 HG02145.hp2
HG02615.hp1
HG02717.hp2
HG02145.hp2
HG02615.hp1
HG02717.hp2
 intron_variant MODIFIER c.735+422G>A
c.735+422G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113246
chr21:46113250 G
G
 T
T
 1 a0003c0007t0007g0048
a0003c0007t0007g0048
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.735+426G>T
c.735+426G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113250
chr21:46113265 C
C
 A
A
 2 a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0001g0329
a0001c0005t0001g0330
 2 HG01884.hp2
HG02258.hp2
HG01884.hp2
HG02258.hp2
 intron_variant MODIFIER c.735+441C>A
c.735+441C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113265
chr21:46113312 G
G
 A
A
 6 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(3): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0027t0003g0252
a0001c0028t0006g0247
 6 HG02559.hp1
HG02615.hp2
HG02976.hp1
others(3): Show 
HG02559.hp1
HG02615.hp2
HG02976.hp1
HG03098.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.735+488G>A
c.735+488G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113312
chr21:46113375 CTTTTA
CTTTTA
 C
C
 3 a0003c0004t0002g0044
a0003c0004t0004g0211
a0003c0004t0004g0213
a0003c0004t0002g0044
a0003c0004t0004g0211
a0003c0004t0004g0213
 3 HG02723.hp2
HG03516.hp1
NA19240.hp1
HG02723.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.735+553_735+557del
others(5): Show 
c.735+553_735+557delTTTAT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 INFO_REALIGN_3_PRIME chr21 46113375
chr21:46113587 G
G
 A
A
 7 a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
others(4): Show 
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
 7 HG00423.hp2
HG00597.hp1
NA18941.hp2
others(4): Show 
HG00423.hp2
HG00597.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
 intron_variant MODIFIER c.736-421G>A
c.736-421G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113587
chr21:46113719 G
G
 A
A
 1 a0001c0002t0009g0265
a0001c0002t0009g0265
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.736-289G>A
c.736-289G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113719
chr21:46113783 G
G
 A
A
 1 a0001c0005t0001g0190
a0001c0005t0001g0190
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.736-225G>A
c.736-225G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113783
chr21:46113798 A
A
 C
C
 1 a0002c0003t0003g0023
a0002c0003t0003g0023
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.736-210A>C
c.736-210A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113798
chr21:46113844 AC
AC
 A
A
 30 a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
others(27): Show 
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0017t0002g0310
a0003c0017t0002g0313
a0009c0032t0006g0229
 31 HG00438.hp2
HG00639.hp1
HG00673.hp2
others(28): Show 
HG00438.hp2
HG00639.hp1
HG00673.hp2
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18977.hp1
NA18980.hp1
NA18982.hp2
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19043.hp2
NA19082.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.736-160delC
c.736-160delC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 INFO_REALIGN_3_PRIME chr21 46113844
chr21:46113872 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.736-136C>T
c.736-136C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 4/27 chr21 46113872
chr21:46114109 C
C
 T
T
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.801+36C>T
c.801+36C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114109
chr21:46114130 T
T
 C
C
 9 a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
others(6): Show 
a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0008c0036t0008g0225
 9 HG00639.hp2
HG02055.hp2
HG02083.hp2
others(6): Show 
HG00639.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03710.hp1
HG04115.hp2
HG04204.hp1
 intron_variant MODIFIER c.801+57T>C
c.801+57T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114130
chr21:46114153 G
G
 A
A
 1 a0003c0004t0004g0045
a0003c0004t0004g0045
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.801+80G>A
c.801+80G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114153
chr21:46114230 T
T
 G
G
 1 a0001c0002t0002g0289
a0001c0002t0002g0289
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.801+157T>G
c.801+157T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114230
chr21:46114282 G
G
 A
A
 3 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0185
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0185
 3 HG00733.hp2
HG01169.hp2
HG01175.hp1
HG00733.hp2
HG01169.hp2
HG01175.hp1
 intron_variant MODIFIER c.801+209G>A
c.801+209G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114282
chr21:46114283 G
G
 C
C
 1 a0002c0003t0003g0066
a0002c0003t0003g0066
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.801+210G>C
c.801+210G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114283
chr21:46114288 A
A
 G
G
 1 a0001c0011t0001g0336
a0001c0011t0001g0336
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.801+215A>G
c.801+215A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114288
chr21:46114295 T
T
 C
C
 1 a0001c0011t0001g0336
a0001c0011t0001g0336
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.801+222T>C
c.801+222T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114295
chr21:46114296 G
G
 A
A
 1 a0001c0011t0001g0336
a0001c0011t0001g0336
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.801+223G>A
c.801+223G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114296
chr21:46114297 C
C
 T
T
 1 a0001c0011t0001g0336
a0001c0011t0001g0336
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.801+224C>T
c.801+224C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114297
chr21:46114398 C
C
 G
G
 3 a0002c0003t0003g0027
a0002c0003t0003g0078
a0002c0003t0003g0084
a0002c0003t0003g0027
a0002c0003t0003g0078
a0002c0003t0003g0084
 3 HG00099.hp1
HG01255.hp2
HG02071.hp2
HG00099.hp1
HG01255.hp2
HG02071.hp2
 intron_variant MODIFIER c.801+325C>G
c.801+325C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114398
chr21:46114424 C
C
 CA
CA
 11 a0001c0002t0002g0290
a0001c0002t0002g0315
a0001c0002t0009g0020
others(8): Show 
a0001c0002t0002g0290
a0001c0002t0002g0315
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0009t0001g0106
a0001c0009t0001g0115
a0002c0003t0003g0051
 12 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(9): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01257.hp1
HG01258.hp2
HG01515.hp1
HG01517.hp1
HG04228.hp2
NA18978.hp1
NA18985.hp2
 intron_variant MODIFIER c.801+367dupA
c.801+367dupA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 INFO_REALIGN_3_PRIME chr21 46114424
chr21:46114424 CA
CA
 C
C
 12 a0001c0001t0001g0105
a0001c0001t0001g0133
a0001c0001t0001g0169
others(9): Show 
a0001c0001t0001g0105
a0001c0001t0001g0133
a0001c0001t0001g0169
a0001c0001t0001g0183
a0001c0001t0001g0285
a0001c0002t0002g0332
a0002c0003t0003g0077
a0002c0003t0003g0092
a0003c0004t0002g0314
a0003c0007t0007g0206
a0006c0037t0001g0088
a0007c0042t0002g0287
 12 HG00140.hp1
HG00323.hp2
HG01256.hp1
others(9): Show 
HG00140.hp1
HG00323.hp2
HG01256.hp1
NA18522.hp2
NA18941.hp2
NA18964.hp1
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18989.hp1
NA19089.hp2
 intron_variant MODIFIER c.801+367delA
c.801+367delA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 INFO_REALIGN_3_PRIME chr21 46114424
chr21:46114471 A
A
 G
G
 1 a0003c0004t0004g0217
a0003c0004t0004g0217
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.801+398A>G
c.801+398A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114471
chr21:46114503 A
A
 G
G
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+430A>G
c.801+430A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114503
chr21:46114504 G
G
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+431G>A
c.801+431G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114504
chr21:46114521 T
T
 C
C
 1 a0003c0007t0003g0235
a0003c0007t0003g0235
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.801+448T>C
c.801+448T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114521
chr21:46114522 G
G
 C
C
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+449G>C
c.801+449G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114522
chr21:46114524 C
C
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+451C>A
c.801+451C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114524
chr21:46114546 T
T
 C
C
 12 a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
others(9): Show 
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0097
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0212
a0003c0004t0014g0214
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
 12 HG00438.hp2
HG00639.hp1
HG00673.hp2
others(9): Show 
HG00438.hp2
HG00639.hp1
HG00673.hp2
HG01257.hp2
NA18955.hp1
NA18977.hp1
NA18980.hp1
NA18982.hp2
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19082.hp2
 intron_variant MODIFIER c.801+473T>C
c.801+473T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114546
chr21:46114592 A
A
 G
G
 3 a0002c0003t0008g0223
a0002c0034t0008g0046
a0008c0036t0008g0225
a0002c0003t0008g0223
a0002c0034t0008g0046
a0008c0036t0008g0225
 3 HG02083.hp2
HG03710.hp1
HG04115.hp2
HG02083.hp2
HG03710.hp1
HG04115.hp2
 intron_variant MODIFIER c.801+519A>G
c.801+519A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114592
chr21:46114703 G
G
 A
A
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+630G>A
c.801+630G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114703
chr21:46114704 T
T
 G
G
 1 a0007c0042t0002g0287
a0007c0042t0002g0287
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.801+631T>G
c.801+631T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114704
chr21:46114826 C
C
 T
T
 3 a0001c0009t0001g0111
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0111
a0001c0009t0001g0120
a0001c0009t0001g0121
 3 HG01891.hp2
HG03209.hp2
HG03225.hp1
HG01891.hp2
HG03209.hp2
HG03225.hp1
 intron_variant MODIFIER c.801+753C>T
c.801+753C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46114826
chr21:46115054 G
G
 A
A
 1 a0001c0006t0005g0237
a0001c0006t0005g0237
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.802-818G>A
c.802-818G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115054
chr21:46115151 G
G
 C
C
 16 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(13): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0027t0003g0252
a0001c0028t0006g0247
 16 HG01261.hp2
HG01891.hp1
HG02559.hp1
others(13): Show 
HG01261.hp2
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.802-721G>C
c.802-721G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115151
chr21:46115266 C
C
 T
T
 23 a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
others(20): Show 
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0014g0214
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
 23 HG00438.hp2
HG00639.hp1
HG00673.hp2
others(20): Show 
HG00438.hp2
HG00639.hp1
HG00673.hp2
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG02451.hp1
HG02486.hp1
HG02723.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18955.hp1
NA18977.hp1
NA18980.hp1
NA18982.hp2
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19082.hp2
NA19240.hp1
 intron_variant MODIFIER c.802-606C>T
c.802-606C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115266
chr21:46115334 C
C
 T
T
 227 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(224): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0005c0015t0001g0162
a0007c0042t0002g0287
 256 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(253): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.802-538C>T
c.802-538C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115334
chr21:46115523 C
C
 T
T
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.802-349C>T
c.802-349C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115523
chr21:46115528 G
G
 C
C
 1 a0001c0006t0005g0236
a0001c0006t0005g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.802-344G>C
c.802-344G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115528
chr21:46115596 C
C
 T
T
 1 a0002c0003t0003g0083
a0002c0003t0003g0083
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.802-276C>T
c.802-276C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115596
chr21:46115622 T
T
 G
G
 243 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(240): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0005c0015t0001g0162
a0007c0042t0002g0287
 272 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(269): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.802-250T>G
c.802-250T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115622
chr21:46115788 C
C
 T
T
 1 a0001c0005t0001g0263
a0001c0005t0001g0263
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.802-84C>T
c.802-84C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115788
chr21:46115842 G
G
 A
A
 3 a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
 3 HG02886.hp2
HG02897.hp1
HG03579.hp1
HG02886.hp2
HG02897.hp1
HG03579.hp1
 intron_variant MODIFIER c.802-30G>A
c.802-30G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 5/27 chr21 46115842
chr21:46116113 C
C
 T
T
 1 a0001c0001t0001g0307
a0001c0001t0001g0307
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.900+60C>T
c.900+60C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 7/27 chr21 46116113
chr21:46116252 G
G
 A
A
 15 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(12): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0027t0003g0252
a0001c0028t0006g0247
 15 HG01261.hp2
HG01891.hp1
HG02559.hp1
others(12): Show 
HG01261.hp2
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.901-125G>A
c.901-125G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 7/27 chr21 46116252
chr21:46116266 C
C
 T
T
 70 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
others(67): Show 
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0031t0002g0299
a0007c0042t0002g0287
 86 HG00423.hp1
HG00544.hp2
HG00673.hp1
others(83): Show 
HG00423.hp1
HG00544.hp2
HG00673.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.901-111C>T
c.901-111C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 7/27 chr21 46116266
chr21:46116295 C
C
 T
T
 5 a0002c0008t0001g0090
a0002c0008t0001g0091
a0004c0016t0003g0094
others(2): Show 
a0002c0008t0001g0090
a0002c0008t0001g0091
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
 5 HG02109.hp1
HG02647.hp2
HG02717.hp1
others(2): Show 
HG02109.hp1
HG02647.hp2
HG02717.hp1
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.901-82C>T
c.901-82C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 7/27 chr21 46116295
chr21:46116474 C
C
 T
T
 3 a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
 3 NA18975.hp1
NA19012.hp2
NA19056.hp2
NA18975.hp1
NA19012.hp2
NA19056.hp2
 intron_variant MODIFIER c.927+71C>T
c.927+71C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 8/27 chr21 46116474
chr21:46116522 G
G
 A
A
 1 a0001c0002t0002g0284
a0001c0002t0002g0284
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.927+119G>A
c.927+119G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 8/27 chr21 46116522
chr21:46116632 C
C
 T
T
 135 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(132): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0162
 146 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(143): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928-19C>T
c.928-19C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 8/27 chr21 46116632
chr21:46116693 A
A
 C
C
 1 a0002c0003t0003g0051
a0002c0003t0003g0051
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.954+16A>C
c.954+16A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 9/27 chr21 46116693
chr21:46116885 A
A
 T
T
 3 a0002c0003t0003g0027
a0002c0003t0003g0078
a0002c0003t0003g0084
a0002c0003t0003g0027
a0002c0003t0003g0078
a0002c0003t0003g0084
 3 HG00099.hp1
HG01255.hp2
HG02071.hp2
HG00099.hp1
HG01255.hp2
HG02071.hp2
 intron_variant MODIFIER c.999+71A>T
c.999+71A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46116885
chr21:46116926 T
T
 TAC
TAC
 48 a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0002t0002g0258
others(45): Show 
a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0002t0002g0258
a0001c0002t0002g0270
a0001c0002t0002g0279
a0001c0002t0002g0284
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0309
a0001c0002t0002g0315
a0001c0002t0005g0292
a0002c0003t0003g0024
a0002c0003t0003g0075
a0002c0003t0003g0077
a0002c0003t0015g0071
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0093
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0003g0235
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
a0009c0032t0006g0229
 49 HG00323.hp2
HG00438.hp2
HG00639.hp1
others(46): Show 
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG01169.hp1
HG01169.hp2
HG01257.hp2
HG01884.hp1
HG02040.hp1
HG02074.hp2
HG02080.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02486.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp2
HG02723.hp2
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG04184.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18950.hp2
NA18955.hp1
NA18975.hp1
NA18977.hp1
NA18978.hp1
NA18980.hp1
NA18982.hp2
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19082.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.999+141_999+142dup
others(2): Show 
c.999+141_999+142dupAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACAC
TACAC
 130 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(127): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0278
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0008t0005g0087
a0003c0004t0002g0044
a0003c0004t0004g0198
a0003c0004t0004g0207
a0003c0004t0004g0209
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0234
a0003c0007t0007g0203
a0003c0033t0007g0202
a0005c0015t0001g0162
 140 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(137): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00558.hp2
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999+139_999+142dup
others(4): Show 
c.999+139_999+142dupACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACACAC
TACACAC
 23 a0001c0001t0001g0010
a0001c0001t0001g0102
a0001c0001t0001g0116
others(20): Show 
a0001c0001t0001g0010
a0001c0001t0001g0102
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0187
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0006t0005g0236
a0001c0006t0006g0239
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0009t0001g0148
a0001c0021t0001g0180
a0001c0027t0003g0252
a0002c0003t0003g0008
a0003c0004t0004g0215
 25 HG00323.hp1
HG00558.hp1
HG00609.hp1
others(22): Show 
HG00323.hp1
HG00558.hp1
HG00609.hp1
HG00733.hp1
HG01109.hp2
HG01261.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp1
HG02258.hp2
HG02273.hp2
HG02486.hp1
HG02559.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03017.hp2
HG03579.hp1
NA18972.hp1
NA18978.hp2
NA19030.hp2
NA19060.hp1
NA21309.hp2
 intron_variant MODIFIER c.999+137_999+142dup
others(6): Show 
c.999+137_999+142dupACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACACACA
others(1): Show 
TACACACAC
 4 a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0006t0006g0248
others(1): Show 
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0006t0006g0248
a0001c0028t0006g0247
 4 HG02897.hp2
HG02976.hp1
NA18612.hp1
others(1): Show 
HG02897.hp2
HG02976.hp1
NA18612.hp1
NA18984.hp2
 intron_variant MODIFIER c.999+135_999+142dup
others(8): Show 
c.999+135_999+142dupACACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACACACA
others(3): Show 
TACACACACAC
 11 a0001c0002t0007g0201
a0001c0006t0005g0058
a0001c0006t0005g0059
others(8): Show 
a0001c0002t0007g0201
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0237
a0001c0006t0005g0238
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0196
a0003c0007t0007g0205
 12 HG00423.hp2
HG01516.hp1
HG01517.hp2
others(9): Show 
HG00423.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02615.hp2
HG03098.hp1
HG03239.hp2
HG03453.hp1
NA18906.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.999+133_999+142dup
others(10): Show 
c.999+133_999+142dupACACACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 6 a0001c0006t0005g0057
a0003c0007t0007g0042
a0003c0007t0007g0048
others(3): Show 
a0001c0006t0005g0057
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0206
 6 HG00597.hp1
HG02559.hp1
NA18941.hp2
others(3): Show 
HG00597.hp1
HG02559.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
 intron_variant MODIFIER c.999+131_999+142dup
others(12): Show 
c.999+131_999+142dupACACACACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.999+127_999+142dup
others(16): Show 
c.999+127_999+142dupACACACACACACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 TAC
TAC
 T
T
 55 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0015
others(52): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0259
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0286
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0333
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0007c0042t0002g0287
 70 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(67): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01515.hp1
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19055.hp2
NA19056.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.999+141_999+142del
others(2): Show 
c.999+141_999+142delAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 TACAC
TACAC
 T
T
 4 a0001c0002t0002g0289
a0001c0002t0002g0320
a0003c0018t0003g0242
others(1): Show 
a0001c0002t0002g0289
a0001c0002t0002g0320
a0003c0018t0003g0242
a0003c0018t0003g0243
 4 HG02723.hp1
HG02818.hp1
HG03453.hp2
others(1): Show 
HG02723.hp1
HG02818.hp1
HG03453.hp2
HG03486.hp1
 intron_variant MODIFIER c.999+139_999+142del
others(4): Show 
c.999+139_999+142delACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46116926 TACACACA
others(11): Show 
TACACACACACACACACAC
 T
T
 9 a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
others(6): Show 
a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0008c0036t0008g0225
 9 HG00639.hp2
HG02055.hp2
HG02083.hp2
others(6): Show 
HG00639.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03710.hp1
HG04115.hp2
HG04204.hp1
 intron_variant MODIFIER c.999+125_999+142del
others(18): Show 
c.999+125_999+142delACACACACACACACACAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 INFO_REALIGN_3_PRIME chr21 46116926
chr21:46117130 G
G
 A
A
 1 a0001c0005t0001g0264
a0001c0005t0001g0264
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1000-270G>A
c.1000-270G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117130
chr21:46117196 G
G
 A
A
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.1000-204G>A
c.1000-204G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117196
chr21:46117232 C
C
 T
T
 16 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(13): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0027t0003g0252
a0001c0028t0006g0247
 16 HG01261.hp2
HG01891.hp1
HG02559.hp1
others(13): Show 
HG01261.hp2
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.1000-168C>T
c.1000-168C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117232
chr21:46117235 C
C
 T
T
 1 a0003c0004t0004g0207
a0003c0004t0004g0207
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1000-165C>T
c.1000-165C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117235
chr21:46117295 G
G
 A
A
 1 a0003c0004t0006g0210
a0003c0004t0006g0210
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1000-105G>A
c.1000-105G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117295
chr21:46117308 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
others(1): Show 
a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
a0001c0001t0001g0133
 5 HG00140.hp1
HG01069.hp2
HG01106.hp2
others(2): Show 
HG00140.hp1
HG01069.hp2
HG01106.hp2
HG01256.hp1
HG01261.hp1
 intron_variant MODIFIER c.1000-92G>A
c.1000-92G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 10/27 chr21 46117308
chr21:46117511 C
C
 T
T
 12 a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
others(9): Show 
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0027t0003g0252
a0001c0028t0006g0247
 12 HG01261.hp2
HG01891.hp1
HG02559.hp2
others(9): Show 
HG01261.hp2
HG01891.hp1
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03453.hp1
HG03579.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+58C>T
c.1053+58C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 chr21 46117511
chr21:46117545 G
G
 A
A
 3 a0001c0002t0002g0281
a0001c0002t0002g0327
a0001c0025t0002g0282
a0001c0002t0002g0281
a0001c0002t0002g0327
a0001c0025t0002g0282
 3 HG02922.hp2
HG03139.hp2
NA19240.hp2
HG02922.hp2
HG03139.hp2
NA19240.hp2
 intron_variant MODIFIER c.1053+92G>A
c.1053+92G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 chr21 46117545
chr21:46117558 GCAGCCCA
others(7): Show 
GCAGCCCAGCAGCCC
 G
G
 2 a0001c0002t0002g0273
a0001c0030t0001g0160
a0001c0002t0002g0273
a0001c0030t0001g0160
 2 HG02698.hp2
NA18955.hp2
HG02698.hp2
NA18955.hp2
 intron_variant MODIFIER c.1053+130_1053+143d
others(16): Show 
c.1053+130_1053+143delGCCCCAGCCCAGCA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 INFO_REALIGN_3_PRIME chr21 46117558
chr21:46117646 G
G
 A
A
 15 a0001c0002t0002g0258
a0001c0002t0002g0270
a0001c0002t0002g0278
others(12): Show 
a0001c0002t0002g0258
a0001c0002t0002g0270
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0284
a0001c0002t0002g0293
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0309
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
 15 HG00673.hp1
HG00735.hp1
HG00741.hp1
others(12): Show 
HG00673.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG02074.hp2
HG02080.hp1
HG04115.hp1
HG04184.hp2
NA18950.hp2
NA18975.hp1
NA19012.hp2
NA19056.hp2
NA19057.hp1
 intron_variant MODIFIER c.1053+193G>A
c.1053+193G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 chr21 46117646
chr21:46117752 T
T
 TG
TG
 285 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(282): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 315 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(312): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1054-119dupG
c.1054-119dupG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 INFO_REALIGN_3_PRIME chr21 46117752
chr21:46117774 A
A
 C
C
 3 a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
 3 HG01884.hp2
HG01978.hp1
HG02258.hp2
HG01884.hp2
HG01978.hp1
HG02258.hp2
 intron_variant MODIFIER c.1054-100A>C
c.1054-100A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 11/27 chr21 46117774
chr21:46117942 T
T
 G
G
 1 a0001c0005t0001g0130
a0001c0005t0001g0130
 1 NA20129.hp1
NA20129.hp1
 splice_region_variant&intron_variant LOW c.1116+6T>G
c.1116+6T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46117942
chr21:46117958 C
C
 T
T
 5 a0002c0008t0001g0090
a0002c0008t0001g0091
a0004c0016t0003g0094
others(2): Show 
a0002c0008t0001g0090
a0002c0008t0001g0091
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
 5 HG02109.hp1
HG02647.hp2
HG02717.hp1
others(2): Show 
HG02109.hp1
HG02647.hp2
HG02717.hp1
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.1116+22C>T
c.1116+22C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46117958
chr21:46117968 G
G
 A
A
 149 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(146): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0005c0015t0001g0082
a0005c0015t0001g0162
a0008c0036t0008g0225
 160 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(157): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+32G>A
c.1116+32G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46117968
chr21:46117975 C
C
 T
T
 1 a0003c0004t0004g0199
a0003c0004t0004g0199
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1116+39C>T
c.1116+39C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46117975
chr21:46118030 G
G
 A
A
 3 a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
 3 HG02109.hp1
HG02647.hp2
HG03540.hp2
HG02109.hp1
HG02647.hp2
HG03540.hp2
 intron_variant MODIFIER c.1116+94G>A
c.1116+94G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118030
chr21:46118059 G
G
 A
A
 2 a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0107
a0001c0001t0001g0122
 2 HG02622.hp1
HG03516.hp2
HG02622.hp1
HG03516.hp2
 intron_variant MODIFIER c.1116+123G>A
c.1116+123G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118059
chr21:46118086 G
G
 A
A
 1 a0001c0002t0002g0015
a0001c0002t0002g0015
 2 NA18971.hp2
NA19012.hp1
NA18971.hp2
NA19012.hp1
 intron_variant MODIFIER c.1116+150G>A
c.1116+150G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118086
chr21:46118136 G
G
 A
A
 260 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(257): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
 289 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(286): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+200G>A
c.1116+200G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118136
chr21:46118157 G
G
 A
A
 235 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(232): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0003g0075
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0007c0042t0002g0287
 264 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(261): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00673.hp2
HG00733.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.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+221G>A
c.1116+221G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118157
chr21:46118196 G
G
 A
A
 1 a0001c0002t0002g0296
a0001c0002t0002g0296
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1116+260G>A
c.1116+260G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118196
chr21:46118232 G
G
 A
A
 1 a0001c0002t0002g0293
a0001c0002t0002g0293
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1116+296G>A
c.1116+296G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118232
chr21:46118281 C
C
 T
T
 1 a0002c0003t0003g0054
a0002c0003t0003g0054
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1117-333C>T
c.1117-333C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118281
chr21:46118282 G
G
 A
A
 1 a0003c0004t0004g0207
a0003c0004t0004g0207
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1117-332G>A
c.1117-332G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118282
chr21:46118335 G
G
 A
A
 7 a0001c0001t0001g0035
a0001c0001t0001g0107
a0001c0001t0001g0122
others(4): Show 
a0001c0001t0001g0035
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0185
a0001c0001t0001g0241
 7 HG00733.hp2
HG01169.hp2
HG01175.hp1
others(4): Show 
HG00733.hp2
HG01169.hp2
HG01175.hp1
HG02055.hp1
HG02622.hp1
HG02647.hp1
HG03516.hp2
 intron_variant MODIFIER c.1117-279G>A
c.1117-279G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118335
chr21:46118396 A
A
 T
T
 286 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(283): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 316 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(313): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-218A>T
c.1117-218A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118396
chr21:46118410 C
C
 T
T
 23 a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
others(20): Show 
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0009c0032t0006g0229
 24 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(21): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18999.hp1
NA19043.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1117-204C>T
c.1117-204C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118410
chr21:46118411 G
G
 A
A
 7 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(4): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
 7 HG01261.hp2
HG02559.hp2
HG02886.hp2
others(4): Show 
HG01261.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03579.hp1
 intron_variant MODIFIER c.1117-203G>A
c.1117-203G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118411
chr21:46118525 C
C
 T
T
 9 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0042
others(6): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 9 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(6): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1117-89C>T
c.1117-89C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118525
chr21:46118530 C
C
 T
T
 1 a0002c0003t0003g0075
a0002c0003t0003g0075
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1117-84C>T
c.1117-84C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118530
chr21:46118558 C
C
 G
G
 3 a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
 3 HG01884.hp2
HG01978.hp1
HG02258.hp2
HG01884.hp2
HG01978.hp1
HG02258.hp2
 intron_variant MODIFIER c.1117-56C>G
c.1117-56C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 chr21 46118558
chr21:46118564 C
C
 CCCCCTTC
others(13): Show 
CCCCCTTCCCCTGCCAAAAGA
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1117-48_1117-29dup
others(20): Show 
c.1117-48_1117-29dupCCCTTCCCCTGCCAAAAGAC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 12/27 INFO_REALIGN_3_PRIME chr21 46118564
chr21:46118758 C
C
 T
T
 1 a0002c0008t0005g0093
a0002c0008t0005g0093
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1179+82C>T
c.1179+82C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 13/27 chr21 46118758
chr21:46118777 G
G
 T
T
 121 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(118): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0007c0042t0002g0287
a0008c0036t0008g0225
 139 HG00140.hp2
HG00423.hp1
HG00423.hp2
others(136): Show 
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp2
HG02132.hp1
HG02165.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1179+101G>T
c.1179+101G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 13/27 chr21 46118777
chr21:46118971 C
C
 T
T
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.1180-59C>T
c.1180-59C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 13/27 chr21 46118971
chr21:46118972 G
G
 A
A
 1 a0001c0029t0001g0143
a0001c0029t0001g0143
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.1180-58G>A
c.1180-58G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 13/27 chr21 46118972
chr21:46119151 C
C
 T
T
 7 a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
others(4): Show 
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0021t0001g0180
 7 HG01257.hp1
HG01258.hp2
HG01891.hp2
others(4): Show 
HG01257.hp1
HG01258.hp2
HG01891.hp2
HG02896.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
 intron_variant MODIFIER c.1269+32C>T
c.1269+32C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119151
chr21:46119212 G
G
 A
A
 1 a0002c0003t0003g0081
a0002c0003t0003g0081
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1269+93G>A
c.1269+93G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119212
chr21:46119293 A
A
 C
C
 3 a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0040t0003g0230
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0040t0003g0230
 3 HG02809.hp1
HG02818.hp2
HG03195.hp2
HG02809.hp1
HG02818.hp2
HG03195.hp2
 intron_variant MODIFIER c.1269+174A>C
c.1269+174A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119293
chr21:46119332 T
T
 C
C
 1 a0001c0002t0002g0311
a0001c0002t0002g0311
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1269+213T>C
c.1269+213T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119332
chr21:46119392 C
C
 T
T
 2 a0001c0002t0010g0123
a0001c0002t0010g0295
a0001c0002t0010g0123
a0001c0002t0010g0295
 2 HG00741.hp1
HG01074.hp2
HG00741.hp1
HG01074.hp2
 intron_variant MODIFIER c.1269+273C>T
c.1269+273C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119392
chr21:46119455 G
G
 A
A
 1 a0009c0032t0006g0229
a0009c0032t0006g0229
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1270-333G>A
c.1270-333G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119455
chr21:46119566 C
C
 T
T
 1 a0001c0006t0005g0057
a0001c0006t0005g0057
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1270-222C>T
c.1270-222C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119566
chr21:46119598 G
G
 A
A
 1 a0003c0007t0003g0235
a0003c0007t0003g0235
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1270-190G>A
c.1270-190G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119598
chr21:46119619 T
T
 C
C
 124 a0001c0001t0001g0047
a0001c0001t0001g0108
a0001c0001t0001g0150
others(121): Show 
a0001c0001t0001g0047
a0001c0001t0001g0108
a0001c0001t0001g0150
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0005g0029
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0004g0207
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0007c0042t0002g0287
a0008c0036t0008g0225
 142 HG00140.hp2
HG00423.hp1
HG00423.hp2
others(139): Show 
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02132.hp1
HG02165.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1270-169T>C
c.1270-169T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119619
chr21:46119644 G
G
 C
C
 2 a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0010t0001g0172
a0001c0010t0001g0191
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.1270-144G>C
c.1270-144G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 14/27 chr21 46119644
chr21:46119876 A
A
 G
G
 287 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(284): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0005g0029
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 317 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(314): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1332+26A>G
c.1332+26A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46119876
chr21:46119897 T
T
 C
C
 1 a0002c0039t0003g0061
a0002c0039t0003g0061
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1332+47T>C
c.1332+47T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46119897
chr21:46119970 A
A
 C
C
 9 a0001c0001t0001g0035
a0001c0001t0001g0107
a0001c0001t0001g0122
others(6): Show 
a0001c0001t0001g0035
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0185
a0001c0001t0001g0241
a0006c0037t0001g0088
a0006c0038t0001g0089
 9 HG00733.hp2
HG01169.hp2
HG01175.hp1
others(6): Show 
HG00733.hp2
HG01169.hp2
HG01175.hp1
HG02055.hp1
HG02622.hp1
HG02647.hp1
HG03516.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.1332+120A>C
c.1332+120A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46119970
chr21:46119982 G
G
 A
A
 1 a0002c0003t0003g0023
a0002c0003t0003g0023
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1332+132G>A
c.1332+132G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46119982
chr21:46120064 G
G
 T
T
 1 a0001c0002t0002g0300
a0001c0002t0002g0300
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1332+214G>T
c.1332+214G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120064
chr21:46120093 G
G
 C
C
 1 a0001c0030t0001g0160
a0001c0030t0001g0160
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1332+243G>C
c.1332+243G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120093
chr21:46120094 G
G
 C
C
 1 a0001c0030t0001g0160
a0001c0030t0001g0160
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1332+244G>C
c.1332+244G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120094
chr21:46120109 A
A
 G
G
 7 a0001c0030t0001g0160
a0003c0007t0007g0042
a0003c0007t0007g0048
others(4): Show 
a0001c0030t0001g0160
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
 7 HG00423.hp2
HG00597.hp1
HG02698.hp2
others(4): Show 
HG00423.hp2
HG00597.hp1
HG02698.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
 intron_variant MODIFIER c.1332+259A>G
c.1332+259A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120109
chr21:46120121 C
C
 G
G
 141 a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
others(138): Show 
a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
a0001c0001t0001g0126
a0001c0001t0001g0131
a0001c0001t0001g0133
a0001c0001t0001g0144
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0168
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
a0005c0015t0001g0082
a0007c0042t0002g0287
a0008c0036t0008g0225
 159 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02132.hp1
HG02145.hp2
HG02165.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1332+271C>G
c.1332+271C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120121
chr21:46120122 GGCC
GGCC
 G
G
 140 a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
others(137): Show 
a0001c0001t0001g0011
a0001c0001t0001g0041
a0001c0001t0001g0105
a0001c0001t0001g0126
a0001c0001t0001g0131
a0001c0001t0001g0133
a0001c0001t0001g0144
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0168
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
a0005c0015t0001g0082
a0007c0042t0002g0287
a0008c0036t0008g0225
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02132.hp1
HG02145.hp2
HG02165.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1332+273_1332+275d
others(5): Show 
c.1332+273_1332+275delGCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120122
chr21:46120123 G
G
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1332+273G>C
c.1332+273G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120123
chr21:46120125 C
C
 CACTGAGG
others(78): Show 
CACTGAGGCACCACTCACACCCCCCGGCCCCCACTGAGGTACCGCTCACC
CCCCAGCCCCCACTGAGGCACCGCTCACACCCCCGG
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1332+275_1332+276i
others(87): Show 
c.1332+275_1332+276insACTGAGGCACCACTCACACCCCCCGGCC
CCCACTGAGGTACCGCTCACCCCCCAGCCCCCACTGAGGCACCGCTCACA
CCCCCGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120125
chr21:46120125 C
C
 CCCACTGA
others(50): Show 
CCCACTGAGGTACCGGCTCACCCCCCAGCCCCCACTGAGGCACCGCTCAC
ACCCCCGG
 1 a0001c0001t0001g0109
a0001c0001t0001g0109
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1332+277_1332+278i
others(59): Show 
c.1332+277_1332+278insACTGAGGTACCGGCTCACCCCCCAGCCC
CCACTGAGGCACCGCTCACACCCCCGGCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120125
chr21:46120125 C
C
 CCCCACTG
others(21): Show 
CCCCACTGAGGCACCACTCACACCCCCGG
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.1332+289_1332+290i
others(30): Show 
c.1332+289_1332+290insACTCACACCCCCGGCCCACTGAGGCACC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120125
chr21:46120125 C
C
 CCCCACTG
others(51): Show 
CCCCACTGAGGCACCGCTCACACCCCCGGCCCCCACTGAGGCACCGCTCA
CACCCCCGG
 8 a0001c0002t0007g0201
a0001c0005t0003g0251
a0003c0007t0001g0204
others(5): Show 
a0001c0002t0007g0201
a0001c0005t0003g0251
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0196
a0003c0007t0007g0203
a0003c0033t0007g0202
 9 HG01243.hp1
HG01516.hp1
HG01517.hp2
others(6): Show 
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG02809.hp2
HG03239.hp2
HG04199.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1332+289_1332+290i
others(60): Show 
c.1332+289_1332+290insGCTCACACCCCCGGCCCCCACTGAGGCA
CCGCTCACACCCCCGGCCCACTGAGGCACC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120125
chr21:46120125 C
C
 CCCCACTG
others(50): Show 
CCCCACTGAGGTACCGCTCACCCCCCAGCCCCCACTGAGGCACCGCTCAC
ACCCCCGG
 106 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(103): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0010
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0175
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0003g0127
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0023t0001g0034
a0002c0003t0003g0008
a0002c0003t0003g0075
a0003c0004t0001g0312
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0097
a0003c0004t0004g0199
a0003c0004t0004g0212
a0003c0004t0014g0214
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0009c0032t0006g0229
 117 HG00280.hp2
HG00438.hp2
HG00558.hp1
others(114): Show 
HG00280.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00639.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04199.hp1
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18943.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1332+285_1332+286i
others(59): Show 
c.1332+285_1332+286insTACCGCTCACCCCCCAGCCCCCACTGAG
GCACCGCTCACACCCCCGGCCCACTGAGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120125
chr21:46120136 C
C
 T
T
 30 a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
others(27): Show 
a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0001t0001g0166
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0244
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0002g0177
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0024t0001g0009
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0198
a0003c0004t0004g0207
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
 31 HG00323.hp1
HG00558.hp2
HG01074.hp1
others(28): Show 
HG00323.hp1
HG00558.hp2
HG01074.hp1
HG01109.hp1
HG01168.hp2
HG01255.hp1
HG01884.hp1
HG02165.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02723.hp2
HG02886.hp1
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03579.hp2
HG03688.hp1
HG03834.hp1
NA18522.hp1
NA18612.hp2
NA18942.hp1
NA18981.hp1
NA19000.hp1
NA19003.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1332+286C>T
c.1332+286C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120136
chr21:46120140 T
T
 G
G
 23 a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
others(20): Show 
a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0001t0001g0244
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0002g0177
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0024t0001g0009
a0003c0004t0004g0198
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
 23 HG00323.hp1
HG01074.hp1
HG01109.hp1
others(20): Show 
HG00323.hp1
HG01074.hp1
HG01109.hp1
HG01168.hp2
HG01255.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02723.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03579.hp2
HG03834.hp1
NA18522.hp1
NA18612.hp2
NA18942.hp1
NA18981.hp1
NA19000.hp1
NA19003.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1332+290T>G
c.1332+290T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120140
chr21:46120143 T
T
 C
C
 23 a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
others(20): Show 
a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0001t0001g0244
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0002g0177
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0024t0001g0009
a0003c0004t0004g0198
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
 23 HG00323.hp1
HG01074.hp1
HG01109.hp1
others(20): Show 
HG00323.hp1
HG01074.hp1
HG01109.hp1
HG01168.hp2
HG01255.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02723.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
HG03579.hp2
HG03834.hp1
NA18522.hp1
NA18612.hp2
NA18942.hp1
NA18981.hp1
NA19000.hp1
NA19003.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1332+293T>C
c.1332+293T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120143
chr21:46120144 A
A
 AC
AC
 12 a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
others(9): Show 
a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0001t0001g0244
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0024t0001g0009
 12 HG00323.hp1
HG01168.hp2
HG01255.hp1
others(9): Show 
HG00323.hp1
HG01168.hp2
HG01255.hp1
HG02165.hp2
HG03017.hp2
HG03834.hp1
NA18612.hp2
NA18942.hp1
NA18981.hp1
NA19000.hp1
NA19003.hp1
NA19088.hp1
 intron_variant MODIFIER c.1332+299dupC
c.1332+299dupC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120144
chr21:46120151 G
G
 GCC
GCC
 11 a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
others(8): Show 
a0001c0001t0001g0009
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0024t0001g0009
 11 HG00323.hp1
HG01168.hp2
HG01255.hp1
others(8): Show 
HG00323.hp1
HG01168.hp2
HG01255.hp1
HG02165.hp2
HG03017.hp2
HG03834.hp1
NA18612.hp2
NA18942.hp1
NA19000.hp1
NA19003.hp1
NA19088.hp1
 intron_variant MODIFIER c.1332+303_1332+304d
others(4): Show 
c.1332+303_1332+304dupCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 INFO_REALIGN_3_PRIME chr21 46120151
chr21:46120164 T
T
 C
C
 1 a0001c0005t0002g0177
a0001c0005t0002g0177
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1332+314T>C
c.1332+314T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120164
chr21:46120185 G
G
 T
T
 1 a0002c0003t0008g0223
a0002c0003t0008g0223
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1333-330G>T
c.1333-330G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120185
chr21:46120251 G
G
 A
A
 27 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(24): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0008c0036t0008g0225
 27 HG00639.hp2
HG01261.hp2
HG01891.hp1
others(24): Show 
HG00639.hp2
HG01261.hp2
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA18906.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.1333-264G>A
c.1333-264G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120251
chr21:46120272 C
C
 T
T
 133 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(130): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 144 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(141): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1333-243C>T
c.1333-243C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120272
chr21:46120273 G
G
 A
A
 1 a0001c0002t0002g0311
a0001c0002t0002g0311
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1333-242G>A
c.1333-242G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120273
chr21:46120286 C
C
 T
T
 214 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(211): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0003c0004t0002g0044
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
 242 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(239): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1333-229C>T
c.1333-229C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120286
chr21:46120295 G
G
 A
A
 2 a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0001g0116
a0001c0001t0001g0153
 2 NA18951.hp2
NA19060.hp1
NA18951.hp2
NA19060.hp1
 intron_variant MODIFIER c.1333-220G>A
c.1333-220G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120295
chr21:46120317 A
A
 C
C
 304 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(301): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0069
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 334 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(331): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1333-198A>C
c.1333-198A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120317
chr21:46120320 G
G
 T
T
 2 a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0005g0237
a0001c0006t0005g0238
 2 HG01891.hp1
HG03453.hp1
HG01891.hp1
HG03453.hp1
 intron_variant MODIFIER c.1333-195G>T
c.1333-195G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120320
chr21:46120346 C
C
 T
T
 129 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(126): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0285
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 140 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(137): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1333-169C>T
c.1333-169C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120346
chr21:46120347 G
G
 A
A
 2 a0002c0003t0003g0062
a0002c0003t0003g0076
a0002c0003t0003g0062
a0002c0003t0003g0076
 2 HG03669.hp1
HG03704.hp1
HG03669.hp1
HG03704.hp1
 intron_variant MODIFIER c.1333-168G>A
c.1333-168G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120347
chr21:46120383 G
G
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1333-132G>A
c.1333-132G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120383
chr21:46120435 C
C
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1333-80C>T
c.1333-80C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120435
chr21:46120507 T
T
 C
C
 92 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
others(89): Show 
a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0003c0004t0002g0044
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0007c0042t0002g0287
 110 HG00140.hp2
HG00423.hp1
HG00423.hp2
others(107): Show 
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20752.hp1
 splice_region_variant&intron_variant LOW c.1333-8T>C
c.1333-8T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 15/27 chr21 46120507
chr21:46120635 GCTGCACC
others(20): Show 
GCTGCACCCCAAGGTAGGGTGGCCGGGA
 G
G
 2 a0003c0004t0003g0194
a0003c0007t0003g0235
a0003c0004t0003g0194
a0003c0007t0003g0235
 2 HG02615.hp1
HG06807.hp2
HG02615.hp1
HG06807.hp2
 intron_variant MODIFIER c.1395+77_1395+103de
others(28): Show 
c.1395+77_1395+103delTGGCCGGGACTGCACCCCAAGGTAGGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 INFO_REALIGN_3_PRIME chr21 46120635
chr21:46120659 G
G
 A
A
 102 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(99): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
 111 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(108): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02896.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+82G>A
c.1395+82G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120659
chr21:46120662 ACTGCACC
others(25): Show 
ACTGCACCCCAAGGTAGGGGACCCGGGTGGGTG
 A
A
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.1395+101_1395+132d
others(34): Show 
c.1395+101_1395+132delGGGGACCCGGGTGGGTGCTGCACCCCAA
GGTA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 INFO_REALIGN_3_PRIME chr21 46120662
chr21:46120746 G
G
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.1395+169G>A
c.1395+169G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120746
chr21:46120811 G
G
 A
A
 136 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(133): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 147 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(144): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+234G>A
c.1395+234G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120811
chr21:46120928 G
G
 C
C
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1396-133G>C
c.1396-133G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120928
chr21:46120958 C
C
 T
T
 4 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(1): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
 4 HG02559.hp1
HG02615.hp2
HG03098.hp1
others(1): Show 
HG02559.hp1
HG02615.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.1396-103C>T
c.1396-103C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120958
chr21:46120971 A
A
 C
C
 2 a0001c0001t0001g0039
a0001c0001t0001g0109
a0001c0001t0001g0039
a0001c0001t0001g0109
 2 NA18948.hp2
NA18966.hp1
NA18948.hp2
NA18966.hp1
 intron_variant MODIFIER c.1396-90A>C
c.1396-90A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120971
chr21:46120999 C
C
 T
T
 2 a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0253
a0001c0002t0002g0254
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.1396-62C>T
c.1396-62C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 16/27 chr21 46120999
chr21:46121192 C
C
 T
T
 1 a0002c0034t0008g0046
a0002c0034t0008g0046
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1458+69C>T
c.1458+69C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121192
chr21:46121205 G
G
 A
A
 1 a0003c0004t0004g0208
a0003c0004t0004g0208
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1458+82G>A
c.1458+82G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121205
chr21:46121348 G
G
 A
A
 1 a0001c0002t0002g0272
a0001c0002t0002g0272
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1459-208G>A
c.1459-208G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121348
chr21:46121379 C
C
 T
T
 1 a0001c0006t0008g0303
a0001c0006t0008g0303
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1459-177C>T
c.1459-177C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121379
chr21:46121388 A
A
 G
G
 22 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(19): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0005t0002g0177
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 24 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(21): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG03579.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1459-168A>G
c.1459-168A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121388
chr21:46121393 G
G
 A
A
 1 a0001c0006t0005g0236
a0001c0006t0005g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1459-163G>A
c.1459-163G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121393
chr21:46121450 C
C
 T
T
 1 a0009c0032t0006g0229
a0009c0032t0006g0229
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1459-106C>T
c.1459-106C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121450
chr21:46121480 C
C
 T
T
 1 a0001c0028t0006g0247
a0001c0028t0006g0247
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1459-76C>T
c.1459-76C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 17/27 chr21 46121480
chr21:46121639 A
A
 G
G
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1521+21A>G
c.1521+21A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121639
chr21:46121653 G
G
 A
A
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1521+35G>A
c.1521+35G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121653
chr21:46121775 C
C
 T
T
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1521+157C>T
c.1521+157C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121775
chr21:46121790 C
C
 A
A
 1 a0001c0006t0005g0236
a0001c0006t0005g0236
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1521+172C>A
c.1521+172C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121790
chr21:46121829 C
C
 T
T
 1 a0002c0008t0005g0025
a0002c0008t0005g0025
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1521+211C>T
c.1521+211C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121829
chr21:46121830 A
A
 G
G
 340 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(337): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 371 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(368): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.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
HG01433.hp1
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1521+212A>G
c.1521+212A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121830
chr21:46121893 G
G
 A
A
 2 a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0005g0237
a0001c0006t0005g0238
 2 HG01891.hp1
HG03453.hp1
HG01891.hp1
HG03453.hp1
 intron_variant MODIFIER c.1522-215G>A
c.1522-215G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121893
chr21:46121909 C
C
 CT
CT
 50 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(47): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0008c0036t0008g0225
a0009c0032t0006g0229
 52 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(49): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19043.hp2
NA19068.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1522-199_1522-198i
others(3): Show 
c.1522-199_1522-198insT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121909
chr21:46121972 C
C
 T
T
 1 a0001c0002t0002g0300
a0001c0002t0002g0300
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1522-136C>T
c.1522-136C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46121972
chr21:46122072 T
T
 C
C
 25 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(22): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0027t0003g0252
a0003c0004t0003g0194
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 27 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(24): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02145.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19030.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1522-36T>C
c.1522-36T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 18/27 chr21 46122072
chr21:46122183 C
C
 T
T
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1572+25C>T
c.1572+25C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122183
chr21:46122306 C
C
 T
T
 136 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(133): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0003g0075
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 147 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(144): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1572+148C>T
c.1572+148C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122306
chr21:46122384 C
C
 T
T
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1573-112C>T
c.1573-112C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122384
chr21:46122385 C
C
 G
G
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1573-111C>G
c.1573-111C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122385
chr21:46122425 A
A
 C
C
 1 a0004c0035t0003g0095
a0004c0035t0003g0095
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1573-71A>C
c.1573-71A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122425
chr21:46122464 C
C
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1573-32C>T
c.1573-32C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 19/27 chr21 46122464
chr21:46122652 C
C
 CCCCAAGG
others(6): Show 
CCCCAAGGCCCTCT
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1608+131_1608+132i
others(15): Show 
c.1608+131_1608+132insTCTCCCAAGGCCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 INFO_REALIGN_3_PRIME chr21 46122652
chr21:46122703 C
C
 G
G
 2 a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0012t0001g0240
a0001c0012t0001g0257
 2 HG01243.hp2
HG02280.hp1
HG01243.hp2
HG02280.hp1
 intron_variant MODIFIER c.1608+172C>G
c.1608+172C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122703
chr21:46122712 G
G
 A
A
 15 a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
others(12): Show 
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0014g0214
 15 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(12): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG02451.hp1
HG02486.hp1
HG02723.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp2
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19240.hp1
 intron_variant MODIFIER c.1609-163G>A
c.1609-163G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122712
chr21:46122713 TCCCTTTT
others(16): Show 
TCCCTTTTCAACCAAAGTTCAGGC
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1609-161_1609-139d
others(25): Show 
c.1609-161_1609-139delCCCTTTTCAACCAAAGTTCAGGC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122713
chr21:46122720 T
T
 C
C
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1609-155T>C
c.1609-155T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122720
chr21:46122740 G
G
 GC
GC
 337 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(334): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 368 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(365): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1609-134dupC
c.1609-134dupC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 INFO_REALIGN_3_PRIME chr21 46122740
chr21:46122741 C
C
 CCA
CCA
 3 a0001c0002t0002g0297
a0001c0002t0002g0315
a0001c0012t0001g0257
a0001c0002t0002g0297
a0001c0002t0002g0315
a0001c0012t0001g0257
 3 HG01243.hp2
NA18978.hp1
NA19003.hp2
HG01243.hp2
NA18978.hp1
NA19003.hp2
 intron_variant MODIFIER c.1609-134_1609-133i
others(4): Show 
c.1609-134_1609-133insCA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122741
chr21:46122759 G
G
 T
T
 1 a0002c0003t0003g0081
a0002c0003t0003g0081
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1609-116G>T
c.1609-116G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122759
chr21:46122760 C
C
 T
T
 1 a0002c0003t0003g0081
a0002c0003t0003g0081
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1609-115C>T
c.1609-115C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122760
chr21:46122770 A
A
 G
G
 1 a0002c0003t0015g0071
a0002c0003t0015g0071
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1609-105A>G
c.1609-105A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122770
chr21:46122822 C
C
 T
T
 3 a0001c0002t0002g0019
a0001c0002t0002g0319
a0001c0002t0002g0322
a0001c0002t0002g0019
a0001c0002t0002g0319
a0001c0002t0002g0322
 4 NA18943.hp1
NA18965.hp2
NA19065.hp1
others(1): Show 
NA18943.hp1
NA18965.hp2
NA19065.hp1
NA19079.hp2
 intron_variant MODIFIER c.1609-53C>T
c.1609-53C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122822
chr21:46122839 C
C
 T
T
 1 a0001c0002t0002g0016
a0001c0002t0002g0016
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1609-36C>T
c.1609-36C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122839
chr21:46122865 C
C
 T
T
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1609-10C>T
c.1609-10C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 20/27 chr21 46122865
chr21:46122947 A
A
 G
G
 304 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(301): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0069
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 334 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(331): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671+10A>G
c.1671+10A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46122947
chr21:46122955 G
G
 A
A
 1 a0001c0002t0002g0324
a0001c0002t0002g0324
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1671+18G>A
c.1671+18G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46122955
chr21:46123117 C
C
 T
T
 30 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(27): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0004g0014
a0008c0036t0008g0225
a0009c0032t0006g0229
 31 HG00639.hp2
HG01261.hp2
HG01884.hp1
others(28): Show 
HG00639.hp2
HG01261.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1671+180C>T
c.1671+180C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123117
chr21:46123129 G
G
 A
A
 1 a0002c0003t0003g0055
a0002c0003t0003g0055
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1671+192G>A
c.1671+192G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123129
chr21:46123177 AAGGGTCC
others(72): Show 
AAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCT
CCCAGCATCCCCACTACAGCATCCCCCACC
 A
A
 30 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(27): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0004g0014
a0008c0036t0008g0225
a0009c0032t0006g0229
 31 HG00639.hp2
HG01261.hp2
HG01884.hp1
others(28): Show 
HG00639.hp2
HG01261.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1671+254_1671+332d
others(81): Show 
c.1671+254_1671+332delTAGTGACCCCTCCACAACATCCCCCCAG
AGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCC
C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123177
chr21:46123273 C
C
 T
T
 1 a0002c0034t0008g0046
a0002c0034t0008g0046
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1671+336C>T
c.1671+336C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123273
chr21:46123290 C
C
 A
A
 30 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(27): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0004g0014
a0008c0036t0008g0225
a0009c0032t0006g0229
 31 HG00639.hp2
HG01261.hp2
HG01884.hp1
others(28): Show 
HG00639.hp2
HG01261.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1671+353C>A
c.1671+353C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123290
chr21:46123372 T
T
 C
C
 287 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(284): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 316 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(313): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671+435T>C
c.1671+435T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123372
chr21:46123382 A
A
 G
G
 1 a0001c0005t0001g0263
a0001c0005t0001g0263
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1671+445A>G
c.1671+445A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123382
chr21:46123465 G
G
 A
A
 2 a0001c0001t0001g0144
a0001c0001t0001g0179
a0001c0001t0001g0144
a0001c0001t0001g0179
 2 HG01069.hp1
HG01071.hp2
HG01069.hp1
HG01071.hp2
 intron_variant MODIFIER c.1671+528G>A
c.1671+528G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123465
chr21:46123534 G
G
 A
A
 3 a0001c0001t0001g0154
a0001c0001t0001g0163
a0001c0001t0001g0184
a0001c0001t0001g0154
a0001c0001t0001g0163
a0001c0001t0001g0184
 3 NA18941.hp1
NA18983.hp2
NA19055.hp1
NA18941.hp1
NA18983.hp2
NA19055.hp1
 intron_variant MODIFIER c.1671+597G>A
c.1671+597G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123534
chr21:46123544 TGGATGGG
others(1): Show 
TGGATGGGA
 T
T
 2 a0003c0007t0007g0013
a0003c0007t0007g0043
a0003c0007t0007g0013
a0003c0007t0007g0043
 3 HG01516.hp1
HG01517.hp2
HG03239.hp2
HG01516.hp1
HG01517.hp2
HG03239.hp2
 intron_variant MODIFIER c.1671+615_1671+622d
others(10): Show 
c.1671+615_1671+622delAGGATGGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123544
chr21:46123628 A
A
 AGTGG
AGTGG
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1671+700_1671+703d
others(6): Show 
c.1671+700_1671+703dupGTGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123628
chr21:46123655 A
A
 ACATGGGT
others(4): Show 
ACATGGGTGAAT
 1 a0001c0002t0002g0280
a0001c0002t0002g0280
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1671+719_1671+729d
others(13): Show 
c.1671+719_1671+729dupCATGGGTGAAT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123655
chr21:46123692 G
G
 A
A
 4 a0002c0003t0001g0068
a0002c0003t0003g0069
a0003c0004t0003g0194
others(1): Show 
a0002c0003t0001g0068
a0002c0003t0003g0069
a0003c0004t0003g0194
a0003c0007t0003g0235
 4 HG02615.hp1
HG02922.hp1
HG06807.hp2
others(1): Show 
HG02615.hp1
HG02922.hp1
HG06807.hp2
NA19030.hp1
 intron_variant MODIFIER c.1671+755G>A
c.1671+755G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123692
chr21:46123695 A
A
 G
G
 286 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(283): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 315 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(312): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671+758A>G
c.1671+758A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123695
chr21:46123697 G
G
 A
A
 286 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(283): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 315 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(312): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671+760G>A
c.1671+760G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123697
chr21:46123700 G
G
 GATGGATG
others(1): Show 
GATGGATGA
 285 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(282): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 314 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(311): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1671+763_1671+764i
others(10): Show 
c.1671+763_1671+764insATGGATGA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123700
chr21:46123723 G
G
 A
A
 9 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(6): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0002c0003t0006g0065
a0002c0003t0006g0067
 9 HG01261.hp2
HG02257.hp2
HG02559.hp2
others(6): Show 
HG01261.hp2
HG02257.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03579.hp1
 intron_variant MODIFIER c.1671+786G>A
c.1671+786G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123723
chr21:46123738 TGATGGAT
others(21): Show 
TGATGGATGGCTGAATGGATGAGTGGGGG
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1671+811_1671+838d
others(30): Show 
c.1671+811_1671+838delCTGAATGGATGAGTGGGGGGATGGATGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123738
chr21:46123746 G
G
 C
C
 3 a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0023t0001g0034
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0023t0001g0034
 3 HG02056.hp2
NA18943.hp2
NA19066.hp1
HG02056.hp2
NA18943.hp2
NA19066.hp1
 intron_variant MODIFIER c.1671+809G>C
c.1671+809G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123746
chr21:46123767 GATGGATG
others(17): Show 
GATGGATGGGTGAGTGGGTGTATGT
 G
G
 1 a0001c0001t0001g0168
a0001c0001t0001g0168
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1671+841_1672-850d
others(26): Show 
c.1671+841_1672-850delGAGTGGGTGTATGTATGGATGGGT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123767
chr21:46123778 GAGTGGGT
others(17): Show 
GAGTGGGTGTATGTATGGATGGGTT
 G
G
 2 a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0005g0237
a0001c0006t0005g0238
 2 HG01891.hp1
HG03453.hp1
HG01891.hp1
HG03453.hp1
 intron_variant MODIFIER c.1671+850_1672-841d
others(26): Show 
c.1671+850_1672-841delTATGTATGGATGGGTTAGTGGGTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123778
chr21:46123824 A
A
 ATGGGTGG
others(1): Show 
ATGGGTGGG
 88 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(85): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0198
a0003c0004t0004g0207
a0003c0004t0004g0209
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 105 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(102): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02145.hp2
HG02165.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1672-821_1672-820i
others(10): Show 
c.1672-821_1672-820insGGTGGGTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123824
chr21:46123868 C
C
 CAGATGGA
others(9): Show 
CAGATGGATAAATGGGT
 128 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(125): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0029t0001g0143
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0005c0015t0001g0162
a0008c0036t0008g0225
a0009c0032t0006g0229
 139 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(136): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-775_1672-774i
others(18): Show 
c.1672-775_1672-774insAAATGGGTAGATGGAT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123868
chr21:46123869 AGATG
AGATG
 A
A
 5 a0001c0002t0002g0293
a0001c0002t0010g0123
a0001c0002t0010g0294
others(2): Show 
a0001c0002t0002g0293
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
 5 HG00735.hp1
HG00741.hp1
HG01074.hp2
others(2): Show 
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG04115.hp1
HG04184.hp2
 intron_variant MODIFIER c.1672-772_1672-769d
others(6): Show 
c.1672-772_1672-769delATGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123869
chr21:46123871 A
A
 ATGGATAA
others(9): Show 
ATGGATAAATGGGTAGG
 22 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(19): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0004t0004g0234
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 24 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(21): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03195.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1672-775_1672-774i
others(18): Show 
c.1672-775_1672-774insAAATGGGTAGGTGGAT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123871
chr21:46123877 G
G
 A
A
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-774G>A
c.1672-774G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123877
chr21:46123878 G
G
 A
A
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-773G>A
c.1672-773G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123878
chr21:46123884 TG
TG
 T
T
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-766delG
c.1672-766delG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123884
chr21:46123887 GTCA
GTCA
 G
G
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-763_1672-761d
others(5): Show 
c.1672-763_1672-761delTCA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123887
chr21:46123891 G
G
 A
A
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-760G>A
c.1672-760G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123891
chr21:46123897 A
A
 G
G
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-754A>G
c.1672-754A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123897
chr21:46123900 TGGATGGG
others(12): Show 
TGGATGGGTGGGTGGATAGA
 T
T
 128 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(125): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0264
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0029t0001g0143
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0005c0015t0001g0162
a0008c0036t0008g0225
a0009c0032t0006g0229
 139 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(136): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-744_1672-726d
others(21): Show 
c.1672-744_1672-726delGTGGGTGGATAGAGGATGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123900
chr21:46123903 A
A
 G
G
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-748A>G
c.1672-748A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123903
chr21:46123906 G
G
 A
A
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-745G>A
c.1672-745G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123906
chr21:46123909 G
G
 C
C
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-742G>C
c.1672-742G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123909
chr21:46123910 G
G
 A
A
 41 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0149
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 41 HG00609.hp1
HG01099.hp1
HG01261.hp2
others(38): Show 
HG00609.hp1
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-741G>A
c.1672-741G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123910
chr21:46123919 A
A
 AT
AT
 40 a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
others(37): Show 
a0001c0001t0001g0037
a0001c0001t0001g0109
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0182
a0001c0001t0001g0188
a0001c0001t0001g0192
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0005t0001g0263
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0011t0001g0336
a0001c0028t0006g0247
a0001c0030t0001g0160
a0002c0034t0008g0046
a0005c0015t0001g0082
a0006c0037t0001g0088
a0006c0038t0001g0089
 40 HG01099.hp1
HG01261.hp2
HG01346.hp1
others(37): Show 
HG01099.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp1
HG03710.hp1
HG03834.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp2
NA18964.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA19009.hp1
NA19089.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-732_1672-731i
others(3): Show 
c.1672-732_1672-731insT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123919
chr21:46123940 G
G
 A
A
 21 a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
others(18): Show 
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
 23 HG00140.hp2
HG00423.hp2
HG00597.hp1
others(20): Show 
HG00140.hp2
HG00423.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1672-711G>A
c.1672-711G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123940
chr21:46123959 AGATGGGT
others(17): Show 
AGATGGGTATGTGAGTGAGTGGGGG
 A
A
 6 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(3): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0002c0003t0006g0065
a0002c0003t0006g0067
 6 HG01261.hp2
HG02257.hp2
HG02559.hp2
others(3): Show 
HG01261.hp2
HG02257.hp2
HG02559.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
 intron_variant MODIFIER c.1672-683_1672-660d
others(26): Show 
c.1672-683_1672-660delTGTGAGTGAGTGGGGGGATGGGTA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123959
chr21:46123968 TGTGA
TGTGA
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1672-675_1672-672d
others(6): Show 
c.1672-675_1672-672delAGTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46123968
chr21:46123980 G
G
 A
A
 3 a0001c0002t0002g0279
a0001c0002t0002g0309
a0003c0007t0002g0022
a0001c0002t0002g0279
a0001c0002t0002g0309
a0003c0007t0002g0022
 3 HG00597.hp2
HG00673.hp1
HG02080.hp1
HG00597.hp2
HG00673.hp1
HG02080.hp1
 intron_variant MODIFIER c.1672-671G>A
c.1672-671G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46123980
chr21:46124003 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1672-648G>A
c.1672-648G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124003
chr21:46124017 ATGAGTGG
others(16): Show 
ATGAGTGGATGGACAGACGGACAG
 A
A
 77 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(74): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 93 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(90): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1672-631_1672-609d
others(25): Show 
c.1672-631_1672-609delAGTGGATGGACAGACGGACAGTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124017
chr21:46124035 G
G
 A
A
 2 a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0127
a0001c0005t0003g0141
 2 HG00280.hp2
HG00323.hp1
HG00280.hp2
HG00323.hp1
 intron_variant MODIFIER c.1672-616G>A
c.1672-616G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124035
chr21:46124058 G
G
 A
A
 1 a0001c0030t0001g0160
a0001c0030t0001g0160
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1672-593G>A
c.1672-593G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124058
chr21:46124141 A
A
 G
G
 22 a0001c0010t0001g0172
a0001c0010t0001g0191
a0003c0004t0004g0014
others(19): Show 
a0001c0010t0001g0172
a0001c0010t0001g0191
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
 23 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(20): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp1
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1672-510A>G
c.1672-510A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124141
chr21:46124152 T
T
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-499T>G
c.1672-499T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124152
chr21:46124169 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-482G>T
c.1672-482G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124169
chr21:46124176 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-475G>C
c.1672-475G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124176
chr21:46124178 ATGGGTGG
others(52): Show 
ATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATG
GATGGGTGAC
 A
A
 7 a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
others(4): Show 
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0197
a0003c0007t0007g0205
a0003c0007t0007g0206
 7 HG00423.hp2
HG00597.hp1
NA18941.hp2
others(4): Show 
HG00423.hp2
HG00597.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
 intron_variant MODIFIER c.1672-462_1672-404d
others(61): Show 
c.1672-462_1672-404delAATGGATGGGTTAGTGGGTGGCTGGGTG
GATGGATGATGGATGGGTGACTGGGTGGATG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124178
chr21:46124188 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-463G>T
c.1672-463G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124188
chr21:46124190 A
A
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-461A>T
c.1672-461A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124190
chr21:46124192 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-459G>C
c.1672-459G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124192
chr21:46124193 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-458G>A
c.1672-458G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124193
chr21:46124194 A
A
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-457A>C
c.1672-457A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124194
chr21:46124196 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-455G>C
c.1672-455G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124196
chr21:46124197 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-454G>A
c.1672-454G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124197
chr21:46124198 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-453G>C
c.1672-453G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124198
chr21:46124200 T
T
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-451T>C
c.1672-451T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124200
chr21:46124202 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-449G>T
c.1672-449G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124202
chr21:46124202 GTGGGTGG
others(20): Show 
GTGGGTGGCTGGGTGGATGGATGATGGA
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1672-442_1672-416d
others(29): Show 
c.1672-442_1672-416delGCTGGGTGGATGGATGATGGATGGGTG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124202
chr21:46124205 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-446G>T
c.1672-446G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124205
chr21:46124206 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-445G>A
c.1672-445G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124206
chr21:46124208 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-443G>C
c.1672-443G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124208
chr21:46124209 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-442G>T
c.1672-442G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124209
chr21:46124212 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-439G>C
c.1672-439G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124212
chr21:46124213 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-438G>A
c.1672-438G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124213
chr21:46124214 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-437G>T
c.1672-437G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124214
chr21:46124216 G
G
 A
A
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1672-435G>A
c.1672-435G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124216
chr21:46124216 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-435G>T
c.1672-435G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124216
chr21:46124224 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-427G>C
c.1672-427G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124224
chr21:46124227 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-424G>C
c.1672-424G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124227
chr21:46124228 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-423G>C
c.1672-423G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124228
chr21:46124231 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-420G>T
c.1672-420G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124231
chr21:46124232 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-419G>A
c.1672-419G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124232
chr21:46124233 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-418G>T
c.1672-418G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124233
chr21:46124235 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-416G>A
c.1672-416G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124235
chr21:46124236 ACTGGGTG
others(25): Show 
ACTGGGTGGATGGATGGATGGGTTAGTGGGTGG
 A
A
 1 a0001c0002t0005g0292
a0001c0002t0005g0292
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1672-404_1672-373d
others(34): Show 
c.1672-404_1672-373delGGATGGATGGGTTAGTGGGTGGCTGGGT
GGAT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124236
chr21:46124238 T
T
 TATTTATT
others(4): Show 
TATTTATTCATG
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-413_1672-412i
others(13): Show 
c.1672-413_1672-412insATTTATTCATG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124238
chr21:46124240 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-411G>A
c.1672-411G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124240
chr21:46124244 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-407G>C
c.1672-407G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124244
chr21:46124247 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-404G>T
c.1672-404G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124247
chr21:46124248 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-403G>C
c.1672-403G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124248
chr21:46124251 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-400G>C
c.1672-400G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124251
chr21:46124252 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-399G>A
c.1672-399G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124252
chr21:46124253 A
A
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-398A>T
c.1672-398A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124253
chr21:46124255 G
G
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-396G>A
c.1672-396G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124255
chr21:46124256 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-395G>T
c.1672-395G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124256
chr21:46124260 A
A
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-391A>G
c.1672-391A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124260
chr21:46124261 G
G
 C
C
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-390G>C
c.1672-390G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124261
chr21:46124265 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-386G>C
c.1672-386G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124265
chr21:46124269 C
C
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-382C>A
c.1672-382C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124269
chr21:46124270 T
T
 A
A
 2 a0001c0001t0001g0037
a0002c0008t0005g0029
a0001c0001t0001g0037
a0002c0008t0005g0029
 2 HG01099.hp1
HG02280.hp2
HG01099.hp1
HG02280.hp2
 intron_variant MODIFIER c.1672-381T>A
c.1672-381T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124270
chr21:46124271 G
G
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-380G>T
c.1672-380G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124271
chr21:46124273 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-378G>C
c.1672-378G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124273
chr21:46124281 A
A
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-370A>G
c.1672-370A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124281
chr21:46124293 TTGGGCGA
others(1): Show 
TTGGGCGAA
 T
T
 5 a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0005t0001g0100
others(2): Show 
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0005t0001g0100
a0002c0003t0003g0063
a0003c0007t0007g0196
 5 HG01981.hp2
HG02630.hp2
HG04204.hp2
others(2): Show 
HG01981.hp2
HG02630.hp2
HG04204.hp2
NA18952.hp1
NA18994.hp1
 intron_variant MODIFIER c.1672-345_1672-338d
others(10): Show 
c.1672-345_1672-338delCGAATGGG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124293
chr21:46124295 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-356G>C
c.1672-356G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124295
chr21:46124299 G
G
 A
A
 2 a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0011g0193
a0003c0004t0011g0200
 2 HG02145.hp2
HG02717.hp2
HG02145.hp2
HG02717.hp2
 intron_variant MODIFIER c.1672-352G>A
c.1672-352G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124299
chr21:46124301 A
A
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-350A>T
c.1672-350A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124301
chr21:46124302 T
T
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-349T>G
c.1672-349T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124302
chr21:46124313 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1672-338G>C
c.1672-338G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124313
chr21:46124323 G
G
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-328G>T
c.1672-328G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124323
chr21:46124326 C
C
 T
T
 2 a0001c0013t0002g0275
a0001c0031t0002g0299
a0001c0013t0002g0275
a0001c0031t0002g0299
 2 HG03927.hp2
NA19087.hp2
HG03927.hp2
NA19087.hp2
 intron_variant MODIFIER c.1672-325C>T
c.1672-325C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124326
chr21:46124342 A
A
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-309A>G
c.1672-309A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124342
chr21:46124343 C
C
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-308C>T
c.1672-308C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124343
chr21:46124347 A
A
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-304A>G
c.1672-304A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124347
chr21:46124348 T
T
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-303T>G
c.1672-303T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124348
chr21:46124349 A
A
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-302A>T
c.1672-302A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124349
chr21:46124372 T
T
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-279T>G
c.1672-279T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124372
chr21:46124374 G
G
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-277G>T
c.1672-277G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124374
chr21:46124375 A
A
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-276A>T
c.1672-276A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124375
chr21:46124376 A
A
 C
C
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-275A>C
c.1672-275A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124376
chr21:46124382 T
T
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-269T>G
c.1672-269T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124382
chr21:46124385 T
T
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-266T>G
c.1672-266T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124385
chr21:46124386 T
T
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-265T>A
c.1672-265T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124386
chr21:46124389 G
G
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-262G>A
c.1672-262G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124389
chr21:46124394 T
T
 C
C
 288 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(285): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 318 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(315): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-257T>C
c.1672-257T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124394
chr21:46124394 T
T
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-257T>G
c.1672-257T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124394
chr21:46124405 C
C
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-246C>A
c.1672-246C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124405
chr21:46124406 A
A
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-245A>T
c.1672-245A>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124406
chr21:46124407 C
C
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-244C>G
c.1672-244C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124407
chr21:46124408 C
C
 A
A
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-243C>A
c.1672-243C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124408
chr21:46124409 C
C
 G
G
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-242C>G
c.1672-242C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124409
chr21:46124412 C
C
 T
T
 1 a0002c0008t0005g0029
a0002c0008t0005g0029
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1672-239C>T
c.1672-239C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124412
chr21:46124450 G
G
 A
A
 1 a0002c0003t0008g0226
a0002c0003t0008g0226
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1672-201G>A
c.1672-201G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124450
chr21:46124461 C
C
 T
T
 1 a0001c0001t0001g0129
a0001c0001t0001g0129
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1672-190C>T
c.1672-190C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124461
chr21:46124474 T
T
 C
C
 43 a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
others(40): Show 
a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
a0009c0032t0006g0229
 44 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(41): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01261.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19043.hp2
NA19068.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-177T>C
c.1672-177T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124474
chr21:46124537 GC
GC
 G
G
 243 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(240): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0270
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0008t0001g0090
a0002c0008t0001g0091
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0009c0032t0006g0229
 272 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(269): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-103delC
c.1672-103delC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124537
chr21:46124537 GCC
GCC
 G
G
 42 a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
others(39): Show 
a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0004c0016t0003g0096
a0008c0036t0008g0225
 43 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(40): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01261.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1672-104_1672-103d
others(4): Show 
c.1672-104_1672-103delCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 INFO_REALIGN_3_PRIME chr21 46124537
chr21:46124539 C
C
 T
T
 3 a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0175
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0175
 3 NA18979.hp2
NA18999.hp2
NA19055.hp1
NA18979.hp2
NA18999.hp2
NA19055.hp1
 intron_variant MODIFIER c.1672-112C>T
c.1672-112C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124539
chr21:46124540 C
C
 T
T
 137 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 148 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(145): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-111C>T
c.1672-111C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124540
chr21:46124542 C
C
 T
T
 1 a0001c0006t0008g0303
a0001c0006t0008g0303
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1672-109C>T
c.1672-109C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124542
chr21:46124548 C
C
 T
T
 1 a0001c0002t0002g0311
a0001c0002t0002g0311
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1672-103C>T
c.1672-103C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124548
chr21:46124562 C
C
 T
T
 2 a0003c0004t0004g0199
a0003c0004t0014g0214
a0003c0004t0004g0199
a0003c0004t0014g0214
 2 HG01257.hp2
NA18999.hp1
HG01257.hp2
NA18999.hp1
 intron_variant MODIFIER c.1672-89C>T
c.1672-89C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124562
chr21:46124614 G
G
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.1672-37G>T
c.1672-37G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124614
chr21:46124627 C
C
 G
G
 140 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(137): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 151 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672-24C>G
c.1672-24C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124627
chr21:46124639 G
G
 A
A
 3 a0001c0002t0002g0281
a0001c0002t0002g0327
a0001c0025t0002g0282
a0001c0002t0002g0281
a0001c0002t0002g0327
a0001c0025t0002g0282
 3 HG02922.hp2
HG03139.hp2
NA19240.hp2
HG02922.hp2
HG03139.hp2
NA19240.hp2
 intron_variant MODIFIER c.1672-12G>A
c.1672-12G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 21/27 chr21 46124639
chr21:46124748 A
A
 G
G
 43 a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
others(40): Show 
a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
a0009c0032t0006g0229
 44 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(41): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01261.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19043.hp2
NA19068.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1734+35A>G
c.1734+35A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/27 chr21 46124748
chr21:46124813 G
G
 A
A
 77 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(74): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 93 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(90): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1735-72G>A
c.1735-72G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/27 chr21 46124813
chr21:46124815 C
C
 T
T
 3 a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
 3 HG02965.hp1
HG02976.hp1
HG03209.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp1
 intron_variant MODIFIER c.1735-70C>T
c.1735-70C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/27 chr21 46124815
chr21:46124855 A
A
 G
G
 20 a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
others(17): Show 
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
 21 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(18): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1735-30A>G
c.1735-30A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 22/27 chr21 46124855
chr21:46124924 G
G
 A
A
 77 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(74): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 93 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(90): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 splice_region_variant&intron_variant LOW c.1770+4G>A
c.1770+4G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46124924
chr21:46124934 G
G
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1770+14G>A
c.1770+14G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46124934
chr21:46125031 G
G
 A
A
 1 a0001c0023t0001g0034
a0001c0023t0001g0034
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.1770+111G>A
c.1770+111G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125031
chr21:46125041 GAGGGCAA
others(33): Show 
GAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCAC
 G
G
 1 a0003c0007t0007g0203
a0003c0007t0007g0203
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1770+132_1770+171d
others(42): Show 
c.1770+132_1770+171delCAGAGAGCAAGCTTGGTTGGGGAAGGTC
ACAGGGCAAGGT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 INFO_REALIGN_3_PRIME chr21 46125041
chr21:46125085 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1770+165G>A
c.1770+165G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125085
chr21:46125107 G
G
 A
A
 74 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(71): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 90 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(87): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1771-159G>A
c.1771-159G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125107
chr21:46125144 C
C
 T
T
 1 a0001c0002t0002g0298
a0001c0002t0002g0298
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1771-122C>T
c.1771-122C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125144
chr21:46125241 A
A
 G
G
 287 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(284): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 317 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(314): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1771-25A>G
c.1771-25A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125241
chr21:46125242 C
C
 G
G
 1 a0001c0006t0005g0058
a0001c0006t0005g0058
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1771-24C>G
c.1771-24C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 23/27 chr21 46125242
chr21:46125396 T
T
 C
C
 41 a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
others(38): Show 
a0001c0002t0007g0201
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
a0009c0032t0006g0229
 42 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(39): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp1
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19043.hp2
NA19068.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1817-69T>C
c.1817-69T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/27 chr21 46125396
chr21:46125403 G
G
 A
A
 2 a0001c0006t0006g0239
a0001c0006t0006g0250
a0001c0006t0006g0239
a0001c0006t0006g0250
 2 HG01261.hp2
HG02559.hp2
HG01261.hp2
HG02559.hp2
 intron_variant MODIFIER c.1817-62G>A
c.1817-62G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/27 chr21 46125403
chr21:46125432 C
C
 T
T
 77 a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
others(74): Show 
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 93 HG00423.hp1
HG00544.hp2
HG00597.hp2
others(90): Show 
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01169.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1817-33C>T
c.1817-33C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/27 chr21 46125432
chr21:46125442 C
C
 T
T
 1 a0001c0002t0012g0288
a0001c0002t0012g0288
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.1817-23C>T
c.1817-23C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/27 chr21 46125442
chr21:46125455 A
A
 AC
AC
 83 a0001c0001t0001g0035
a0001c0001t0001g0114
a0001c0001t0001g0155
others(80): Show 
a0001c0001t0001g0035
a0001c0001t0001g0114
a0001c0001t0001g0155
a0001c0001t0001g0304
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0158
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0031t0002g0299
a0002c0003t0003g0231
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0007t0002g0022
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0041t0002g0261
a0007c0042t0002g0287
 100 HG00140.hp2
HG00423.hp1
HG00544.hp2
others(97): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01168.hp1
HG01169.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01952.hp2
HG01975.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02132.hp1
HG02165.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
NA18747.hp2
NA18942.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp2
 splice_acceptor_variant&intron_variant HIGH c.1817-3dupC
c.1817-3dupC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 24/27 INFO_REALIGN_3_PRIME chr21 46125455
chr21:46125682 T
T
 G
G
 2 a0001c0002t0010g0123
a0001c0002t0010g0295
a0001c0002t0010g0123
a0001c0002t0010g0295
 2 HG00741.hp1
HG01074.hp2
HG00741.hp1
HG01074.hp2
 intron_variant MODIFIER c.1969+65T>G
c.1969+65T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 25/27 chr21 46125682
chr21:46125762 G
G
 C
C
 6 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
others(3): Show 
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
 7 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(4): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01106.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.1970-23G>C
c.1970-23G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 25/27 chr21 46125762
chr21:46125770 G
G
 A
A
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1970-15G>A
c.1970-15G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 25/27 chr21 46125770
chr21:46126287 C
C
 T
T
 4 a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
others(1): Show 
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0003c0004t0006g0210
 4 HG02886.hp2
HG02897.hp1
HG03486.hp2
others(1): Show 
HG02886.hp2
HG02897.hp1
HG03486.hp2
HG03579.hp1
 intron_variant MODIFIER c.2422+50C>T
c.2422+50C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126287
chr21:46126330 T
T
 C
C
 183 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(180): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0007g0201
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 195 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(192): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2422+93T>C
c.2422+93T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126330
chr21:46126349 C
C
 A
A
 22 a0001c0002t0007g0201
a0001c0006t0008g0303
a0002c0003t0008g0221
others(19): Show 
a0001c0002t0007g0201
a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
 23 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(20): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03239.hp2
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2422+112C>A
c.2422+112C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126349
chr21:46126420 T
T
 C
C
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2423-83T>C
c.2423-83T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126420
chr21:46126445 G
G
 A
A
 1 a0003c0004t0011g0193
a0003c0004t0011g0193
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2423-58G>A
c.2423-58G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126445
chr21:46126461 G
G
 A
A
 2 a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0058
a0001c0006t0005g0059
 2 HG02615.hp2
NA18906.hp2
HG02615.hp2
NA18906.hp2
 intron_variant MODIFIER c.2423-42G>A
c.2423-42G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126461
chr21:46126468 C
C
 A
A
 21 a0001c0002t0007g0201
a0001c0006t0008g0303
a0002c0003t0008g0221
others(18): Show 
a0001c0002t0007g0201
a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
 21 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(18): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03239.hp2
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2423-35C>A
c.2423-35C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126468
chr21:46126476 T
T
 C
C
 1 a0003c0007t0007g0013
a0003c0007t0007g0013
 2 HG01516.hp1
HG01517.hp2
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.2423-27T>C
c.2423-27T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 chr21 46126476
chr21:46126476 T
T
 TGGCCC
TGGCCC
 9 a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
others(6): Show 
a0001c0006t0008g0303
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0008c0036t0008g0225
 9 HG00639.hp2
HG02055.hp2
HG02083.hp2
others(6): Show 
HG00639.hp2
HG02055.hp2
HG02083.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03710.hp1
HG04115.hp2
HG04204.hp1
 intron_variant MODIFIER c.2423-22_2423-18dup
others(5): Show 
c.2423-22_2423-18dupCGGCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 INFO_REALIGN_3_PRIME chr21 46126476
chr21:46126476 T
T
 TGGCCCGG
others(8): Show 
TGGCCCGGCCCGGCCC
 12 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0042
others(9): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 12 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(9): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2423-18_2423-17ins
others(15): Show 
c.2423-18_2423-17insCGGCCCGGCCCGGCC
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 26/27 INFO_REALIGN_3_PRIME chr21 46126476
chr21:46126552 G
G
 C
C
 1 a0001c0002t0002g0317
a0001c0002t0002g0317
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.2461+11G>C
c.2461+11G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126552
chr21:46126658 C
C
 T
T
 2 a0001c0001t0001g0173
a0001c0001t0001g0188
a0001c0001t0001g0173
a0001c0001t0001g0188
 2 HG02080.hp2
NA18945.hp1
HG02080.hp2
NA18945.hp1
 intron_variant MODIFIER c.2461+117C>T
c.2461+117C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126658
chr21:46126669 C
C
 T
T
 1 a0001c0022t0006g0050
a0001c0022t0006g0050
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2461+128C>T
c.2461+128C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126669
chr21:46126737 C
C
 T
T
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.2461+196C>T
c.2461+196C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126737
chr21:46126744 G
G
 A
A
 2 a0003c0004t0003g0194
a0003c0007t0003g0235
a0003c0004t0003g0194
a0003c0007t0003g0235
 2 HG02615.hp1
HG06807.hp2
HG02615.hp1
HG06807.hp2
 intron_variant MODIFIER c.2461+203G>A
c.2461+203G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126744
chr21:46126759 C
C
 T
T
 1 a0001c0002t0012g0288
a0001c0002t0012g0288
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.2461+218C>T
c.2461+218C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126759
chr21:46126840 G
G
 T
T
 3 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0265
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0265
 4 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(1): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
 intron_variant MODIFIER c.2461+299G>T
c.2461+299G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126840
chr21:46126894 T
T
 G
G
 6 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(3): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0237
a0001c0006t0005g0238
 6 HG01891.hp1
HG02559.hp1
HG02615.hp2
others(3): Show 
HG01891.hp1
HG02559.hp1
HG02615.hp2
HG03098.hp1
HG03453.hp1
NA18906.hp2
 intron_variant MODIFIER c.2461+353T>G
c.2461+353T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126894
chr21:46126916 T
T
 G
G
 1 a0001c0027t0003g0252
a0001c0027t0003g0252
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2461+375T>G
c.2461+375T>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126916
chr21:46126974 T
T
 C
C
 1 a0009c0032t0006g0229
a0009c0032t0006g0229
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2461+433T>C
c.2461+433T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46126974
chr21:46127012 TCA
TCA
 T
T
 340 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(337): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0008
a0002c0003t0003g0021
a0002c0003t0003g0023
a0002c0003t0003g0024
a0002c0003t0003g0026
a0002c0003t0003g0027
a0002c0003t0003g0030
a0002c0003t0003g0051
a0002c0003t0003g0053
a0002c0003t0003g0054
a0002c0003t0003g0055
a0002c0003t0003g0062
a0002c0003t0003g0063
a0002c0003t0003g0066
a0002c0003t0003g0069
a0002c0003t0003g0070
a0002c0003t0003g0072
a0002c0003t0003g0073
a0002c0003t0003g0074
a0002c0003t0003g0075
a0002c0003t0003g0076
a0002c0003t0003g0077
a0002c0003t0003g0078
a0002c0003t0003g0079
a0002c0003t0003g0080
a0002c0003t0003g0081
a0002c0003t0003g0083
a0002c0003t0003g0084
a0002c0003t0003g0085
a0002c0003t0003g0092
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0003t0015g0071
a0002c0003t0016g0086
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0002c0039t0003g0061
a0002c0040t0003g0230
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 371 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(368): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.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
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.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
HG01433.hp1
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+474_2461+475d
others(4): Show 
c.2461+474_2461+475delCA
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 INFO_REALIGN_3_PRIME chr21 46127012
chr21:46127064 G
G
 A
A
 3 a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0265
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0265
 4 HG00140.hp2
HG00735.hp2
HG00738.hp1
others(1): Show 
HG00140.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
 intron_variant MODIFIER c.2461+523G>A
c.2461+523G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127064
chr21:46127172 G
G
 T
T
 133 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(130): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 144 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(141): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+631G>T
c.2461+631G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127172
chr21:46127220 A
A
 G
G
 300 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(297): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 330 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(327): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+679A>G
c.2461+679A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127220
chr21:46127294 C
C
 A
A
 23 a0001c0006t0005g0236
a0001c0006t0006g0239
a0001c0006t0006g0248
others(20): Show 
a0001c0006t0005g0236
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0008c0036t0008g0225
a0009c0032t0006g0229
 23 HG00639.hp2
HG01261.hp2
HG02055.hp2
others(20): Show 
HG00639.hp2
HG01261.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp1
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04204.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.2461+753C>A
c.2461+753C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127294
chr21:46127317 G
G
 A
A
 10 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(7): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0002c0003t0006g0065
a0002c0003t0006g0067
a0003c0004t0006g0210
 10 HG01261.hp2
HG02257.hp2
HG02559.hp2
others(7): Show 
HG01261.hp2
HG02257.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03486.hp2
HG03579.hp1
 intron_variant MODIFIER c.2461+776G>A
c.2461+776G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127317
chr21:46127377 C
C
 T
T
 4 a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
others(1): Show 
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0003c0004t0006g0210
 4 HG02886.hp2
HG02897.hp1
HG03486.hp2
others(1): Show 
HG02886.hp2
HG02897.hp1
HG03486.hp2
HG03579.hp1
 intron_variant MODIFIER c.2461+836C>T
c.2461+836C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127377
chr21:46127418 G
G
 A
A
 140 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(137): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 151 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(148): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+877G>A
c.2461+877G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127418
chr21:46127443 C
C
 T
T
 1 a0003c0004t0004g0207
a0003c0004t0004g0207
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2461+902C>T
c.2461+902C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127443
chr21:46127462 G
G
 A
A
 10 a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
others(7): Show 
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0002c0003t0006g0065
a0002c0003t0006g0067
a0003c0004t0006g0210
 10 HG01261.hp2
HG02257.hp2
HG02559.hp2
others(7): Show 
HG01261.hp2
HG02257.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03486.hp2
HG03579.hp1
 intron_variant MODIFIER c.2461+921G>A
c.2461+921G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127462
chr21:46127462 G
G
 T
T
 1 a0002c0039t0003g0061
a0002c0039t0003g0061
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2461+921G>T
c.2461+921G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127462
chr21:46127512 C
C
 T
T
 3 a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
 3 HG00735.hp1
HG00741.hp1
HG01074.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
 intron_variant MODIFIER c.2461+971C>T
c.2461+971C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127512
chr21:46127538 C
C
 T
T
 7 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(4): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
 7 HG01891.hp1
HG02559.hp1
HG02615.hp2
others(4): Show 
HG01891.hp1
HG02559.hp1
HG02615.hp2
HG03098.hp1
HG03453.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.2461+997C>T
c.2461+997C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127538
chr21:46127560 G
G
 A
A
 20 a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
others(17): Show 
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
 21 HG00438.hp2
HG00639.hp1
HG01074.hp1
others(18): Show 
HG00438.hp2
HG00639.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03195.hp1
HG03225.hp2
NA18522.hp1
NA18977.hp1
NA18999.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.2461+1019G>A
c.2461+1019G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127560
chr21:46127670 C
C
 T
T
 1 a0003c0004t0004g0212
a0003c0004t0004g0212
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2461+1129C>T
c.2461+1129C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127670
chr21:46127678 C
C
 G
G
 7 a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
others(4): Show 
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
 7 HG01891.hp1
HG02559.hp1
HG02615.hp2
others(4): Show 
HG01891.hp1
HG02559.hp1
HG02615.hp2
HG03098.hp1
HG03453.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.2461+1137C>G
c.2461+1137C>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127678
chr21:46127691 A
A
 G
G
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2461+1150A>G
c.2461+1150A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127691
chr21:46127726 TG
TG
 T
T
 183 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(180): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0007g0201
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 195 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(192): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+1191delG
c.2461+1191delG
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 INFO_REALIGN_3_PRIME chr21 46127726
chr21:46127748 T
T
 C
C
 304 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(301): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0025t0002g0282
a0001c0026t0006g0049
a0001c0027t0003g0252
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0001c0031t0002g0299
a0002c0003t0001g0068
a0002c0003t0003g0069
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0001g0312
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0219
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0001g0204
a0003c0007t0002g0022
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 334 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(331): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.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
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.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
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+1207T>C
c.2461+1207T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127748
chr21:46127780 C
C
 T
T
 1 a0009c0032t0006g0229
a0009c0032t0006g0229
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2461+1239C>T
c.2461+1239C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127780
chr21:46127782 T
T
 A
A
 1 a0002c0003t0003g0231
a0002c0003t0003g0231
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2461+1241T>A
c.2461+1241T>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127782
chr21:46127860 T
T
 C
C
 147 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(144): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0006
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0006g0268
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0004t0003g0194
a0003c0007t0001g0204
a0003c0007t0003g0235
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 160 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(157): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461+1319T>C
c.2461+1319T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127860
chr21:46127869 G
G
 T
T
 1 a0001c0002t0002g0318
a0001c0002t0002g0318
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2462-1327G>T
c.2462-1327G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127869
chr21:46127882 C
C
 T
T
 1 a0001c0002t0002g0302
a0001c0002t0002g0302
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.2462-1314C>T
c.2462-1314C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127882
chr21:46127883 G
G
 A
A
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2462-1313G>A
c.2462-1313G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127883
chr21:46127926 C
C
 T
T
 35 a0001c0002t0007g0201
a0001c0006t0006g0239
a0001c0006t0006g0248
others(32): Show 
a0001c0002t0007g0201
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0022t0006g0050
a0001c0026t0006g0049
a0001c0028t0006g0247
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0034t0008g0046
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0008c0036t0008g0225
 36 HG00423.hp2
HG00597.hp1
HG00639.hp2
others(33): Show 
HG00423.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG01261.hp2
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG02055.hp2
HG02083.hp2
HG02257.hp2
HG02559.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp1
HG03239.hp2
HG03486.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2462-1270C>T
c.2462-1270C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127926
chr21:46127928 C
C
 T
T
 2 a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0098
a0001c0001t0001g0099
 2 NA18943.hp2
NA19066.hp1
NA18943.hp2
NA19066.hp1
 intron_variant MODIFIER c.2462-1268C>T
c.2462-1268C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127928
chr21:46127944 G
G
 C
C
 1 a0001c0027t0003g0252
a0001c0027t0003g0252
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2462-1252G>C
c.2462-1252G>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46127944
chr21:46128017 C
C
 T
T
 13 a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
others(10): Show 
a0001c0002t0007g0201
a0003c0007t0001g0204
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
 14 HG00423.hp2
HG00597.hp1
HG01243.hp1
others(11): Show 
HG00423.hp2
HG00597.hp1
HG01243.hp1
HG01516.hp1
HG01517.hp2
HG01981.hp2
HG03239.hp2
HG04199.hp2
NA18941.hp2
NA18944.hp1
NA18949.hp1
NA18994.hp2
NA19068.hp2
NA20752.hp1
 intron_variant MODIFIER c.2462-1179C>T
c.2462-1179C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128017
chr21:46128077 A
A
 G
G
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2462-1119A>G
c.2462-1119A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128077
chr21:46128097 T
T
 C
C
 191 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(188): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0007g0201
a0001c0005t0001g0005
a0001c0005t0001g0036
a0001c0005t0001g0040
a0001c0005t0001g0100
a0001c0005t0001g0104
a0001c0005t0001g0110
a0001c0005t0001g0112
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0190
a0001c0005t0001g0263
a0001c0005t0001g0264
a0001c0005t0001g0329
a0001c0005t0001g0330
a0001c0005t0002g0177
a0001c0005t0003g0127
a0001c0005t0003g0141
a0001c0005t0003g0142
a0001c0005t0003g0251
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0006g0239
a0001c0006t0006g0248
a0001c0006t0006g0249
a0001c0006t0006g0250
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0008g0303
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0009t0001g0148
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0022t0006g0050
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0026t0006g0049
a0001c0028t0006g0247
a0001c0029t0001g0143
a0001c0030t0001g0160
a0002c0003t0003g0080
a0002c0003t0006g0065
a0002c0003t0006g0067
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0001g0090
a0002c0008t0001g0091
a0002c0034t0008g0046
a0003c0004t0003g0194
a0003c0004t0004g0014
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0007t0001g0204
a0003c0007t0003g0235
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0033t0007g0202
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
a0008c0036t0008g0225
a0009c0032t0006g0229
 204 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(201): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2462-1099T>C
c.2462-1099T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128097
chr21:46128153 G
G
 A
A
 1 a0002c0008t0005g0025
a0002c0008t0005g0025
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2462-1043G>A
c.2462-1043G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128153
chr21:46128205 C
C
 T
T
 2 a0001c0002t0002g0319
a0001c0002t0002g0327
a0001c0002t0002g0319
a0001c0002t0002g0327
 2 NA18965.hp2
NA19240.hp2
NA18965.hp2
NA19240.hp2
 intron_variant MODIFIER c.2462-991C>T
c.2462-991C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128205
chr21:46128220 C
C
 T
T
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.2462-976C>T
c.2462-976C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128220
chr21:46128238 C
C
 T
T
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.2462-958C>T
c.2462-958C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128238
chr21:46128280 C
C
 T
T
 2 a0001c0012t0001g0240
a0001c0012t0001g0257
a0001c0012t0001g0240
a0001c0012t0001g0257
 2 HG01243.hp2
HG02280.hp1
HG01243.hp2
HG02280.hp1
 intron_variant MODIFIER c.2462-916C>T
c.2462-916C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128280
chr21:46128329 C
C
 T
T
 2 a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0098
a0001c0001t0001g0099
 2 NA18943.hp2
NA19066.hp1
NA18943.hp2
NA19066.hp1
 intron_variant MODIFIER c.2462-867C>T
c.2462-867C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128329
chr21:46128334 C
C
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.2462-862C>A
c.2462-862C>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128334
chr21:46128433 G
G
 A
A
 117 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(114): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0005t0001g0130
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0004t0001g0312
a0003c0007t0001g0204
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 126 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(123): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2462-763G>A
c.2462-763G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128433
chr21:46128477 A
A
 G
G
 4 a0001c0006t0006g0239
a0001c0006t0006g0250
a0002c0003t0006g0065
others(1): Show 
a0001c0006t0006g0239
a0001c0006t0006g0250
a0002c0003t0006g0065
a0002c0003t0006g0067
 4 HG01261.hp2
HG02257.hp2
HG02559.hp2
others(1): Show 
HG01261.hp2
HG02257.hp2
HG02559.hp2
HG02965.hp2
 intron_variant MODIFIER c.2462-719A>G
c.2462-719A>G
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128477
chr21:46128484 G
G
 GTGGCCTG
others(4): Show 
GTGGCCTGGCCC
 126 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0218
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0274
a0001c0001t0001g0285
a0001c0001t0001g0304
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0337
a0001c0002t0002g0253
a0001c0002t0002g0259
a0001c0002t0002g0308
a0001c0005t0001g0040
a0001c0005t0001g0110
a0001c0005t0001g0118
a0001c0005t0001g0130
a0001c0005t0001g0157
a0001c0005t0001g0158
a0001c0005t0001g0165
a0001c0005t0001g0171
a0001c0005t0001g0264
a0001c0009t0001g0106
a0001c0009t0001g0111
a0001c0009t0001g0115
a0001c0009t0001g0120
a0001c0009t0001g0121
a0001c0010t0001g0172
a0001c0010t0001g0191
a0001c0011t0001g0335
a0001c0011t0001g0336
a0001c0020t0001g0181
a0001c0021t0001g0180
a0001c0023t0001g0034
a0001c0024t0001g0009
a0001c0029t0001g0143
a0001c0030t0001g0160
a0003c0004t0001g0312
a0003c0007t0001g0204
a0003c0007t0007g0203
a0005c0015t0001g0082
a0005c0015t0001g0162
a0006c0037t0001g0088
a0006c0038t0001g0089
 135 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18964.hp1
NA18965.hp1
NA18966.hp1
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2462-705_2462-695d
others(13): Show 
c.2462-705_2462-695dupGGCCCTGGCCT
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 INFO_REALIGN_3_PRIME chr21 46128484
chr21:46128576 G
G
 A
A
 7 a0001c0006t0008g0303
a0002c0003t0003g0066
a0002c0003t0003g0228
others(4): Show 
a0001c0006t0008g0303
a0002c0003t0003g0066
a0002c0003t0003g0228
a0002c0003t0003g0231
a0002c0003t0003g0232
a0002c0039t0003g0061
a0002c0040t0003g0230
 7 HG00639.hp2
HG01433.hp1
HG02109.hp2
others(4): Show 
HG00639.hp2
HG01433.hp1
HG02109.hp2
HG02809.hp1
HG02818.hp2
HG03195.hp2
NA21309.hp1
 intron_variant MODIFIER c.2462-620G>A
c.2462-620G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128576
chr21:46128641 A
A
 C
C
 146 a0001c0001t0001g0102
a0001c0002t0002g0001
a0001c0002t0002g0003
others(143): Show 
a0001c0001t0001g0102
a0001c0002t0002g0001
a0001c0002t0002g0003
a0001c0002t0002g0006
a0001c0002t0002g0015
a0001c0002t0002g0016
a0001c0002t0002g0017
a0001c0002t0002g0018
a0001c0002t0002g0019
a0001c0002t0002g0253
a0001c0002t0002g0254
a0001c0002t0002g0255
a0001c0002t0002g0258
a0001c0002t0002g0259
a0001c0002t0002g0270
a0001c0002t0002g0271
a0001c0002t0002g0272
a0001c0002t0002g0273
a0001c0002t0002g0276
a0001c0002t0002g0277
a0001c0002t0002g0278
a0001c0002t0002g0279
a0001c0002t0002g0280
a0001c0002t0002g0281
a0001c0002t0002g0283
a0001c0002t0002g0284
a0001c0002t0002g0286
a0001c0002t0002g0289
a0001c0002t0002g0290
a0001c0002t0002g0293
a0001c0002t0002g0296
a0001c0002t0002g0297
a0001c0002t0002g0298
a0001c0002t0002g0300
a0001c0002t0002g0301
a0001c0002t0002g0302
a0001c0002t0002g0306
a0001c0002t0002g0308
a0001c0002t0002g0309
a0001c0002t0002g0311
a0001c0002t0002g0315
a0001c0002t0002g0316
a0001c0002t0002g0317
a0001c0002t0002g0318
a0001c0002t0002g0319
a0001c0002t0002g0320
a0001c0002t0002g0322
a0001c0002t0002g0324
a0001c0002t0002g0326
a0001c0002t0002g0327
a0001c0002t0002g0331
a0001c0002t0002g0332
a0001c0002t0002g0333
a0001c0002t0005g0292
a0001c0002t0007g0201
a0001c0002t0009g0020
a0001c0002t0009g0256
a0001c0002t0009g0262
a0001c0002t0009g0265
a0001c0002t0009g0334
a0001c0002t0009g0338
a0001c0002t0010g0123
a0001c0002t0010g0294
a0001c0002t0010g0295
a0001c0002t0010g0325
a0001c0002t0012g0288
a0001c0002t0013g0291
a0001c0005t0002g0177
a0001c0006t0005g0057
a0001c0006t0005g0058
a0001c0006t0005g0059
a0001c0006t0005g0064
a0001c0006t0005g0236
a0001c0006t0005g0237
a0001c0006t0005g0238
a0001c0006t0008g0303
a0001c0013t0002g0001
a0001c0013t0002g0275
a0001c0014t0002g0321
a0001c0014t0002g0323
a0001c0019t0002g0017
a0001c0025t0002g0282
a0001c0027t0003g0252
a0001c0031t0002g0299
a0002c0003t0003g0092
a0002c0003t0008g0221
a0002c0003t0008g0222
a0002c0003t0008g0223
a0002c0003t0008g0224
a0002c0003t0008g0226
a0002c0003t0008g0227
a0002c0008t0005g0025
a0002c0008t0005g0028
a0002c0008t0005g0029
a0002c0008t0005g0031
a0002c0008t0005g0060
a0002c0008t0005g0087
a0002c0008t0005g0093
a0002c0034t0008g0046
a0003c0004t0002g0044
a0003c0004t0002g0260
a0003c0004t0002g0314
a0003c0004t0002g0328
a0003c0004t0004g0014
a0003c0004t0004g0045
a0003c0004t0004g0097
a0003c0004t0004g0198
a0003c0004t0004g0199
a0003c0004t0004g0207
a0003c0004t0004g0208
a0003c0004t0004g0209
a0003c0004t0004g0211
a0003c0004t0004g0212
a0003c0004t0004g0213
a0003c0004t0004g0215
a0003c0004t0004g0216
a0003c0004t0004g0217
a0003c0004t0004g0220
a0003c0004t0004g0234
a0003c0004t0006g0210
a0003c0004t0011g0193
a0003c0004t0011g0200
a0003c0004t0014g0214
a0003c0007t0002g0022
a0003c0007t0007g0013
a0003c0007t0007g0042
a0003c0007t0007g0043
a0003c0007t0007g0048
a0003c0007t0007g0195
a0003c0007t0007g0196
a0003c0007t0007g0197
a0003c0007t0007g0203
a0003c0007t0007g0205
a0003c0007t0007g0206
a0003c0017t0002g0310
a0003c0017t0002g0313
a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0033t0007g0202
a0003c0041t0002g0261
a0004c0016t0003g0094
a0004c0016t0003g0096
a0004c0035t0003g0095
a0007c0042t0002g0287
a0008c0036t0008g0225
a0009c0032t0006g0229
 165 HG00140.hp2
HG00423.hp1
HG00423.hp2
others(162): Show 
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp1
HG01257.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.2462-555A>C
c.2462-555A>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128641
chr21:46128695 G
G
 T
T
 1 a0001c0027t0003g0252
a0001c0027t0003g0252
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2462-501G>T
c.2462-501G>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128695
chr21:46128911 G
G
 A
A
 1 a0001c0027t0003g0252
a0001c0027t0003g0252
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2462-285G>A
c.2462-285G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128911
chr21:46128939 C
C
 T
T
 2 a0003c0018t0003g0242
a0003c0018t0003g0243
a0003c0018t0003g0242
a0003c0018t0003g0243
 2 HG02818.hp1
HG03453.hp2
HG02818.hp1
HG03453.hp2
 intron_variant MODIFIER c.2462-257C>T
c.2462-257C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128939
chr21:46128940 G
G
 A
A
 2 a0001c0002t0002g0017
a0001c0019t0002g0017
a0001c0002t0002g0017
a0001c0019t0002g0017
 2 NA18747.hp2
NA18942.hp2
NA18747.hp2
NA18942.hp2
 intron_variant MODIFIER c.2462-256G>A
c.2462-256G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128940
chr21:46128991 T
T
 C
C
 2 a0002c0003t0003g0066
a0002c0039t0003g0061
a0002c0003t0003g0066
a0002c0039t0003g0061
 2 HG02109.hp2
NA21309.hp1
HG02109.hp2
NA21309.hp1
 intron_variant MODIFIER c.2462-205T>C
c.2462-205T>C
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46128991
chr21:46129041 C
C
 T
T
 3 a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
a0001c0006t0006g0266
a0001c0006t0006g0267
a0001c0006t0006g0268
 3 HG02886.hp2
HG02897.hp1
HG03579.hp1
HG02886.hp2
HG02897.hp1
HG03579.hp1
 intron_variant MODIFIER c.2462-155C>T
c.2462-155C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46129041
chr21:46129123 G
G
 A
A
 1 a0003c0007t0007g0013
a0003c0007t0007g0013
 2 HG01516.hp1
HG01517.hp2
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.2462-73G>A
c.2462-73G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46129123
chr21:46129148 C
C
 T
T
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2462-48C>T
c.2462-48C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46129148
chr21:46129159 G
G
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2462-37G>A
c.2462-37G>A
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46129159
chr21:46129176 C
C
 T
T
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.2462-20C>T
c.2462-20C>T
COL6A2 ENSG00000142173.17 transcript ENST00000397763.6 protein_coding 27/27 chr21 46129176

  • 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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